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The authors studied the perceptions, attitudes, and beliefs about deafness and disability in 9 Hispanic families with deaf children. In-depth interviews were conducted, focusing on the families' experiences in adjusting to the child's hearing loss and emphasizing, in particular, concepts of causation of deafness; communication with the deaf child; and perceptions of the accessibility of services. Most parents expressed positive or neutral feelings, about deafness. Concepts of causation varied, with some parents attributing deafness to divine will, others to heredity or physical insult. Many parents reported that their extended families and communities stigmatized the deaf child. Most families were satisfied with the services available. Parents' appraisals of the children's receptive and expressive abilities for oral language were profoundly contradictory. These interviews provide valuable insight into the belief systems and needs of this minority group. Increased awareness of these needs and concerns is necessary to improve services for Hispanic deaf children and their families. [ABSTRACT FROM AUTHOR]

Background: Tunnelled central venous catheters (T-CVCs) are used globally as vascular access for patients on haemodialysis (HD) but are associated with increased sepsis, mortality, cost and length of hospitalisation compared with more permanent HD vascular access. The reasons for using T-CVC are varied and poorly understood. A significant and increasing proportion of incident HD patients in Victoria, Australia, have required T-CVC over the last decade., Aim: To explore reasons for a significant and increasing proportion of incident HD patients in Victoria, Australia, having required T-CVC over the last decade., Methods: With rates of starting HD with definitive vascular access consistently below a Victorian quality indicator target of 70%, an online survey was developed to explore reasons why the rate remained lower than desired and to help inform future decisions about this quality indicator. The survey was completed by dialysis access coordinators over an 8-month period and involved all public nephrology services in Victoria., Results: Of the 125 surveys completed, 101 incident HD patients had no attempt at permanent vascular access prior to T-CVC insertion. For almost half of these (48 patients), there was no active medical decision not to create permanent vascular access prior to commencing dialysis. Reasons for insertion of the T-CVC included deterioration of kidney function faster than anticipated, surgical referral being overlooked, complications related to peritoneal dialysis requiring a change in dialysis modality and changes to initial decisions regarding dialysis modality for kidney failure., Conclusions: These survey results provide an opportunity for quality improvement initiatives with respect to dialysis access planning and care., (© 2023 The Authors. Internal Medicine Journal published by John Wiley & Sons Australia, Ltd on behalf of Royal Australasian College of Physicians.)

Twenty-eight HLA alleles of the A and B loci were determined in 23 American Blacks and 50 Caucasians with primary ankylosing spondylitis (AS). The prevalence of HLA B27 was significantly increased in American Black patients (48 per cent) vs Black controls (two per cent), but was much less than the 94 per cent found in Caucasian patients (controls eight per cent). The lower prevalence of B27 in American Black patients vs Caucasian patients was significant (p < 0.001), and indicated that susceptibility to AS is not as closely associated with B27 in Blacks as in Caucasians. No other HLA antigen was significantly associated with AS in either racial group. Among B27 positive individuals, the relative risk of developing AS was significantly lower in American Blacks than in Caucasians. These data indicate that for diagnostic purposes, the absence of B27 is less important in ruling out AS in Blacks than in Caucasians., (Copyright © 2023 by the Journal of Rheumatology.)

The transcriptome of kinetoplastid mitochondria undergoes extensive RNA editing that inserts and deletes uridine residues (U's) to produce mature mRNAs. The editosome is a multiprotein complex that provides endonuclease, TUTase, exonuclease, and ligase activities required for RNA editing. The editosome's KREPB4 and KREPB5 proteins are essential for editosome integrity and parasite viability and contain semi-conserved motifs corresponding to zinc finger, RNase III, and PUF domains, but to date no functional analysis of these domains has been reported. We show here that various point mutations to KREPB4 and KREPB5 identify essential domains, and suggest that these proteins do not themselves perform RNase III catalysis. The zinc finger of KREPB4 but not KREPB5 is essential for editosome integrity and parasite viability, and mutation of the RNase III signature motif in KREPB5 prevents integration into editosomes, which is lethal. Isolated TAP-tagged KREPB4 and KREPB5 complexes preferentially associate with components of the deletion subcomplex, providing additional insights into editosome architecture. A new alignment of editosome RNase III sequences from several kinetoplastid species implies that KREPB4 and KREPB5 lack catalytic activity and reveals that the PUF motif is present in the editing endonucleases KREN1, KREN2, and KREN3. The data presented here are consistent with the hypothesis that KREPB4 and KREPB5 form intermolecular heterodimers with the catalytically active editing endonucleases, which is unprecedented among known RNase III proteins.

Few studies examine whether and how parental attitudes towards genetic testing change over time. In this study we interviewed parents of 14 children with newly identified hearing loss at two time points: after referral to genetics and 1 year later. Qualitative analyses of parental narratives indicate that parental attitudes did not change significantly over this time. Parents who perceived genetic testing to be useful continued to value it after testing, while parents who did not perceive it as being useful for their child's future held the same view a year later. The only parents who changed their views regarding the usefulness of genetic testing for hearing loss were those who reported that their children underwent significant changes in their hearing loss or were faced with other life threatening conditions. Parents were also often unaware of the role of the genetic counselor and how genetic counseling could help address many of their lingering questions and concerns. These emergent themes indicate the need for geneticists and genetic counselors to be aware of and sensitized to the questions and attitudes that bring parents to a genetic evaluation, as well as the reasons why parents may not follow up with genetic testing for hearing loss when recommended.

We report on the development of a Genetic Attitude Assessment Tool (GAAT) to measure parental attitudes in contemplating genetic testing for childhood hearing loss, and to examine the differences in assessments made before and after genetic counseling. The GAAT tool was administered to a convenient sample of 119 parents of children with bilateral sensorineural hearing loss. The respondents completed the survey either before (n = 77) or after (n = 42) genetic counseling. Exploratory Factor Analysis was applied to identify and quantify the underlying psychosocial structure. Our results showed the validated 54-item GAAT instrument contains six subscales: (1) "test intention," (2) "beliefs in non-genetic causes of hearing loss," (3) "deferral of decision to undergo genetic testing," (4) "appropriate use of genetic testing results," (5) "beliefs in the benefits," and (6) "concerns about stigma." The respondents who answered the survey after genetic counseling had higher "test intention" (P = 0.017) and endorsed to a greater extent "beliefs in the benefits" (P < 0.001). They believed to a lesser extent that childhood hearing loss was due to "non-genetic causes" (P < 0.001) and were less inclined to prefer "decision deferral" (P = 0.031). Respondents who themselves had a hearing loss expressed a significantly weaker belief in "non-genetic causes" of hearing loss (P < 0.0001). In conclusion the validated GAAT instrument is responsive to changes in parental attitudes after genetic counseling. The GAAT may be used to monitor parental attitudes serially, to further understand how parental attitudes change from pre genetic counseling, post genetic counseling, to post test result disclosure., ((c) 2007 Wiley-Liss, Inc)

Studies on parental attitudes towards genetic testing for hearing loss have surveyed parents of newborns with hearing loss as well as deaf and hearing adults. Although research indicates that most people have positive attitudes about genetic testing, few studies examine parental narratives about the personal implications of genetic hearing loss in their children. In this qualitative study we conducted semi-structured interviews with 24 parents whose children had been referred for, but had not yet undergone, genetic testing for hearing loss. The parents were recruited to represent a diverse range of racial, ethnic, and socioeconomic groups. Genetics and genetic testing for hearing loss were poorly understood topics. Beyond supporting or opposing genetic testing for hearing loss, parents' construction of meaning included struggles to locate responsibility (metaphysical attributions, ascription or alleviation of parental responsibility) as well as questions about the usefulness and implications of genetic testing for hearing loss in their child. Based on the themes that emerged from this study, we highlight the need for healthcare professionals to be aware and sensitized to parents' narratives, personal meanings and socio-cultural context when referring them for genetic testing for hearing loss. Listening attentively to parental narratives can help minimize prevailing misconceptions among parents and enable appropriate medical care and education., ((c) 2007 Wiley-Liss, Inc)

Background: People who are deaf use health care services differently than the general population; little research has been carried out to understand the reasons., Objective: To better understand the health care experiences of deaf people who communicate in American Sign Language., Design: Qualitative analyses of focus group discussions in 3 U.S. cities., Participants: Ninety-one deaf adults who communicate primarily in American Sign Language., Measurements: We collected information about health care communication and perceptions of clinicians' attitudes. We elicited stories of both positive and negative encounters, as well as recommendations for improving health care., Results: Communication difficulties were ubiquitous. Fear, mistrust, and frustration were prominent in participants' descriptions of health care encounters. Positive experiences were characterized by the presence of medically experienced certified interpreters, health care practitioners with sign language skills, and practitioners who made an effort to improve communication. Many participants acknowledged limited knowledge of their legal rights and did not advocate for themselves. Some participants believed that health care practitioners should learn more about sociocultural aspects of deafness., Conclusions: Deaf people report difficulties using health care services. Physicians can facilitate change to improve this. Future research should explore the perspective of clinicians when working with deaf people, ways to improve communication, and the impact of programs that teach deaf people self-advocacy skills and about their legal rights.

Survival of bloodstream form Trypanosoma brucei, the agent of African sleeping sickness, normally requires mitochondrial gene expression, despite the absence of oxidative phosphorylation in this stage of the parasite's life cycle. Here we report that silencing expression of the alpha subunit of the mitochondrial F(1)-ATP synthase complex is lethal for bloodstream stage T. brucei as well as for T. evansi, a closely related species that lacks mitochondrial protein coding genes (i.e. is dyskinetoplastic). Our results suggest that the lethal effect is due to collapse of the mitochondrial membrane potential, which is required for mitochondrial function and biogenesis. We also identified a mutation in the gamma subunit of F(1) that is likely to be involved in circumventing the requirement for mitochondrial gene expression in another dyskinetoplastic form. Our data reveal that the mitochondrial ATP synthase complex functions in the bloodstream stage opposite to that in the insect stage and in most other eukaryotes, namely using ATP hydrolysis to generate the mitochondrial membrane potential.

This investigation concerned the socialization experiences and coping strategies of a group of 28 deaf adults who were raised using spoken language. Most respondents reported some level of social isolation because of (1) limitations in communication with hearing peers; (2) missing information in social, academic, and work settings; and (3) a sense of being "different." Most participants also reported strategies used to reduce isolation and mitigate the social difficulties associated with their hearing loss.

Objectives: Advances in cochlear implant (CI) technology have increased the complexity of treating childhood deafness. We compare parental decision-making, values, beliefs, and preferences between parents of eligible and ineligible children in considering cochlear implants., Methods: Surveys were obtained from 83 hearing parents of deaf children. A subset of 50 parents also underwent semi-structured interviews. Nine hypothetical outcomes, ranging from mainstream success to poor mainstream outcome were created to measure parents' overall preferences and preference for specific outcomes for their child who is deaf., Results: Among parents of eligible children (n = 50), approximately 2/3 considered implantation (n = 33). The other 1/3 did not consider implantation. Parents who were eligible but did not consider implantation placed significantly lower priority on mainstream success over bilingual success (P < 0.03), and on the child's ability to speak versus sign (P < 0.02). They also showed significantly higher concerns on the cost of services in general and on the availability of resources offered at the local school district (both P > 0.05). Parents of ineligible children (n = 30) rarely considered implantation, even if they showed similar aspirations in mainstream outcomes (P = 0.003). Semi-structured interview data supported these findings., Conclusions: The decision to consider cochlear implantation is strongly influenced by the eligibility and by professionals' recommendations. However, for some parents, the decision goes beyond eligibility and is determined by parental preferences, goals, values, and beliefs. This highlights the importance of careful audiologic evaluation and professionals' awareness of and sensitivity to parental goals, values, and beliefs in evaluating the child's candidacy.

An unknown number of medical school faculty have disabilities, and their experiences have generally escaped notice and scrutiny. Although most medical schools offer long-term insurance and extended leaves of absence for disability, relatively few have policies explicitly addressing accommodations for faculty with disabilities as they perform teaching, research, and clinical duties. We discuss accommodating active medical school faculty with disabilities, drawing on University of Pennsylvania School of Medicine initiatives exploring the concerns of faculty with sensory and physical disabilities. Anecdotal reports suggest that many faculty, fearing reprisals, resist seeking job accommodations such as those mandated in the 1990 Americans with Disabilities Act (ADA). Although some faculty with disabilities have found supportive academic mentors, others report that lax institutional enforcement of ADA requirements, including physical access problems, demonstrates a tepid commitment to disabled staff. Potentially useful job accommodations include adjusting timelines for promotion decisions; reassessing promotions requirements that inherently require extensive travel; improving physical access to teaching, research, and clinical sites; and modifying clinical and teaching schedules. Faculty with disabilities bring identical intellectual and collegial benefits to medical schools as their nondisabled counterparts. In addition, they may offer special insights into how chronic illness and impairments affect daily life.

More than ten years have passed since the Americans with Disabilities Act (ADA) mandated that all employers provide "reasonable accommodations" for employees with disabilities. This mandate applies to medical schools, but no systematic information is available to assess the accommodations provided to medical school faculty with disabilities. This Issue Brief summarizes anecdotal evidence from several medical schools about the experiences of faculty with disabilities, and the barriers they face in establishing and maintaining their careers. It also recommends practical steps medical schools can take to provide a welcoming and accessible academic medical environment.

Background: The authors investigated the knowledge, attitudes, and healthcare experiences of Deaf women., Methods: Interviews with 45 deaf women who participated in focus groups in American Sign Language were translated, transcribed, and analyzed. Deaf women's understanding of women's health issues, knowledge of health vocabulary in both English and American Sign Language, common health concerns among Deaf women, and issues of access to information, including pathways and barriers, were examined. As a qualitative study, the results of this investigation are limited and should be viewed as exploratory., Results: A lack of health knowledge was evident, including little understanding of the meaning or value of cancer screening, mammography, or Pap smears; purposes of prescribed medications, such as hormone replacement therapy (HRT); or necessity for other medical or surgical interventions. Negative experiences and avoidance or nonuse of health services were reported, largely due to the lack of a common language with healthcare providers. Insensitive behaviors were also described. Positive experiences and increased access to health information were reported with practitioners who used qualified interpreters. Providers who demonstrated minimal signing skills, a willingness to use paper and pen, and sensitivity to improving communication were appreciated., Conclusions: Deaf women have unique cultural and linguistic issues that affect healthcare experiences. Improved access to health information may be achieved with specialized resource materials, improved prevention and targeted intervention strategies, and self-advocacy skills development. Healthcare providers must be trained to become more effective communicators with Deaf patients and to use qualified interpreters to assure access to healthcare for Deaf women.

A recent study documented a large increase in prescriptions of stimulants and antidepressants among preschoolers, and has prompted public and professional concern about the effects of mood-altering drugs on young children. In response, the White House announced a broad initiative on children's mental health, including more government money for research, new labels on drugs for pediatric use, educational materials for parents, and a fall White House conference. To place these events in their larger context, this Issue Brief summarizes the findings of the Children's Mental Health Alliance Project, which conducted a multidisciplinary consensus conference in November 1998 followed by a year-long dialogue with clinicians, researchers, and families.

Data are reported on 28 deaf individuals who were convicted, pled guilty, or have been charged and awaiting trial for murder. The unique forensic issues raised by these cases are discussed, and their clinical picture presented. A significant percentage of these deaf murderers and defendants had such severely limited communication skills in both English and American Sign Language that they lacked the linguistic ability to understand the charges against them and/or to participate in their own defense. As such, they were incompetent to stand trial, due not to mental illness or mental retardation, but to linguistic deficits. This form of incompetence poses a dilemma to the courts that remains unresolved. This same linguistic disability makes it impossible for some deaf suspects to be administered Miranda Warnings in a way comprehensible to them. This paper identifies the reasons for the communication problems many deaf persons face in court and offers remedial steps to help assure fair trials and police interrogations for deaf defendants. The roles and responsibilities of psychiatric and psychological experts in these cases are discussed. Data are provided on the etiology of the 28 individuals' hearing losses, psychiatric/psychological histories, IQs, communication characteristics, educational levels, and victim characteristics., (Copyright 1999 John Wiley & Sons, Ltd.)

Objective: The authors investigated the feasibility of translating the National Institute of Mental Health Quick Diagnostic Interview Schedule-III, Revised, computer version, for deaf individuals., Method: The study involved translation of selected scales into American Sign Language, Signed English, and speech reading; review by an advisory panel and back translator; and collection and analysis of deaf individuals' reactions to translations., Results: Focus groups responded favorably, translation problems were revealed, and solutions were suggested., Conclusions: The findings support the feasibility of translation of the Quick Diagnostic Interview Schedule-III, Revised, into American Sign Language, Signed English, and speech reading for deaf patients.

Objective: The authors investigated knowledge, attitudes, and beliefs about mental illness and providers held by a group of deaf adults., Method: The American Sign Language interviews of 54 deaf adults were analyzed., Results: Recurrent themes included mistrust of providers, communication difficulty as a primary cause of mental health problems, profound concern with communication in therapy, and widespread ignorance about how to obtain services., Conclusions: Deaf consumers' views need due consideration in service delivery planning. Outreach regarding existing programs is essential.

Background: Although HLA identity between donor and recipient is no longer an absolute requirement for bone marrow transplantation, knowledge of the degree of HLA compatibility is necessary for determining the induction and immunosuppression regimen to be used. In cases of related donor transplantation, HLA compatibility may be assessed by defining the HLA phenotypes at the allele level using high-resolution, DNA-based typing methods or by determining the genotypes of the patient and potential donor from the HLA phenotypes, ascertained by low-resolution typing, of their family members., Methods: We developed an algorithm that can be used to assess the relative costs of these two approaches. We applied population frequencies for HLA-DR alleles to this algorithm to determine at what cost per test ratio for high-resolution:low-resolution testing the costs of the two approaches are equal., Results: In transplants involving a sibling pair who have the same HLA-A, -B, and -DR antigens, these values are 1.16-1.83 for African-Americans and 1.23-1.97 for Caucasians, depending on the relatives available for testing. With a slight increase in the resolution level achieved with DR antigen testing, the range of values becomes 1.10-1.74. We also estimated that the probability that two antigenically identical siblings have identical HLA-DRB1 alleles is >99% for both African-Americans and Caucasians. A review of 615 cases from our transplant program showed that all of 192 pairs of antigenically identical patients and sibling donors were genotypically or allelically identical, indicating that this estimate is valid., Conclusions: Transplant programs can apply these algorithms to determine the most cost-effective scheme for histocompatibility testing.

HLA allele and haplotype frequencies are used in transplantation, anthropology, forensic medicine, and studies of the associations between HLA factors and the immune response. The cost of determining these frequencies through family studies can be avoided by estimating them from population data. We have utilized the data in the UNOS donor registry and kidney transplant waiting list to estimate allele and haplotype frequencies for the HLA-A, -B, and -DR(B1) loci and report the allele and a portion of the haplotype data here. Using programs written in A Program Language (APL) we were able to perform all analyses on a personal computer. We have found that the distribution of haplotype frequencies varies among the races, with Caucasians having a greater number of both more common and extremely rare haplotypes. Despite the sizes of the groups studied, only one-third to two-thirds of the haplotypes theoretically possible were actually observed. Although the data confirm the well-known fact that the distributions of alleles and haplotypes varies among races, they also reveal that certain common haplotypes are shared among all racial groups and represent an opportunity for well-matched transplants between donors and recipients of different races.

We have analyzed HLA data from the UNOS registry on 20,230 patients on the renal waiting list in 1991 and 18,708 donors from 1988-1992. Significant differences were found in the distribution of HLA antigens for comparisons of the total donor pool and the various racial groups of patients as well as for inter- and intraracial comparisons of donors and patients. Within a racial group, the frequencies of blanks and of broad antigens were usually higher in patients while those of splits were usually higher in donors. Comparisons between the total donor pool and the various racial groups of patients showed that the likelihood of mismatch was greater for African-Americans and Hispanics than for Caucasians but that the chance of mismatch is high for all groups and the average number of antigens mismatched will not vary greatly among the different races. Heterogeneity, as measured by the percentage of the population with different phenotypes, was higher in African-Americans (97.2-99.7%) and Hispanics (97.7-99.4%) than in Caucasians (83.3-86.5%) because of multiple occurrences of a few phenotypes, most containing A1, B8 and DR3, in Caucasians. However, the most common phenotypes of Caucasian donors differed from those of Caucasian patients. All phenotypes were rare (0.007-0.61%) and, with the exception of a small group of Caucasian patients, the likelihood of achieving a good match is low, regardless of race. These data explain the observations that, with the exception of the phenotypically identical match, HLA matching does not influence organ distribution significantly.

Complementary genetic and demographic analyses estimate the total proportion of European-American admixture in the Gila River Indian Community and trace its mode of entry. Among the 9,616 residents in the sample, 2,015 persons claim only partial Native American heritage. A procedure employing 23 alleles or haplotypes at eight loci was used to estimate the proportion of European-American admixture, m(a), for the entire sample and within six categories of Caucasian admixture calculated from demographic data, md. The genetic analysis gave an estimate of total European-American admixture in the community of 0.054 (95% confidence interval [CI] .044-.063), while an estimate from demographic records was similar, .059. Regression of m(a) on md yielded a fitted line m(a) = .922md, r = .959 (P = .0001). When total European-American admixture is partitioned between the contributing populations, Mexican-Americans have provided .671, European-Americans .305, and African-Americans .023. These results are discussed within the context of the ethnic composition of the Gila River Indian Community, the assumptions underlying the methods, and the potential that demographic data have for enriching genetic measurements of human admixture. It is concluded that, despite the severe assumptions of the mathematical methods, accurate, reliable estimates of genetic admixture are possible from allele and haplotype frequencies, even when there is little demographic information for the population.

Serum samples from six populations living in the Caspian Littoral anf from two populations (Armenians and Muslims) living in Teheran were tested for Gm(1,2,3,5,6,10,11,13,14,17,21,24,26) and for Inv(1). The Gm data show that all six populations from the Littoral have African and Mongoloid admixture. Genetic distance among these six populations was estimated using Nei's standard distance measure, and its standard error, based on the 11 loci analyzed by Kirk et al. (1977); on these 11 loci plus Gm; and on the foregoing 12-plus Inv. Only the distance measures for populations 1 and 4, 2 and 3 are significantly different in all three measures of distances, and then only at the 5% level. More loci will have to be studied before firmly based conclusions may be drawn concerning the relation of these populations to each other. The Armenian population, unlike the remaining seven populations, shows no evidence of African admixture, but it does show Mongoloid admixture. The Muslim population shows African and Mongoloid admixture and, in addition, has the unusual haplotype Gm3,5,10,11,14,17,26 at polymorphic frequencies.

Materials precipitated from an aqueous extract of house dust by saturation with ammonium sulphate showed immunological reaction with antisera to human serum albumin, human alpha1-acid glycoprotein, human IgG, Gm and Inv antigens and to A, B and H antigens. It is concluded that the albumin and alpha1-acid glycoprotein are of human origin. It seems that the apparent IgG activity is due to cross-reactivity since, from the anticipated specificities of the Fab and Fc fragments of human IgG, the former could not be detected, and since Gm (6) activity was present, unexpectedly, in Swiss house dust. The A, B and H blood group antigenic activities were detected in relative concentration different from those expected if they were solely of human origin. It is concluded that they are from both human and non-human sources.

This paper describes a family in which 10 members of 3 generations have IgM-IgG cryoglobulinemia. Their pedigree is characteristic of autosomal dominant inheritance. No underlying disease that could account for the cryoglobulinemia has been identified in any patient, and no linkage of the cryoglobulinemia to HLA-A and -B locus haplotypes, blood group antigens, or immunoglobulin Gm allotypes has been detected. The rheumatoid factors of this kindred react with some, but not all, human IgG; however, their rheumatoid factors are not antibodies to any known human Gm or Km allotype. This family demonstrates that "essential" mixed cryoglobulinemia can be inherited, and that the clinical manifestations of an inherited cryoglobulinemia may vary among family members.

Serum samples from 223 Jews from Cochin, India were tested for Gm(1,2,3,5,6,13,14,17,21,26) and for Inv(1). Certain samples were also tested for Gm(15) and Gm(16). The Cochin Jews are polymorphic for: 1) Gm3, a haplotype that does not lead to the formation of gamma 3, as was shown by tests of the serum of a homozygote, and 2) Gm1,17,21, a haplotype lacking Gm(26), which is ordinarily present in this haplotype. The Gm data indicate considerable admixture with southern Indians. There is no evidence for African admixture, such as has been found for all other Jewish populations studied thus far. The Inv data are similar to those for other Jewish populations.

Bukharan and Georgian Jews have lived in central Asia for many centuries. Approximately 30,000 Bukharan and 37,000 Georgian Jews lived in their respective countries within the USSR between 1920 and 1960. Genetic markers of blood--blood groups, isoenzymes, HLA antigens, and gamma and kappa chain allotypes--were tested in blood samples from 113 Bukharan and 134 Georgian Jews living in Israel. Estimates of inbreeding were low: alpha = 0.0088 for Bukharan and alpha = 0.0011 for Georgian Jews. G6PD deficiency was relatively rare in Bukharan (2.2%) and in Georgian Jews (6.0%), when compared to other Jews in the area. Both populations showed frequencies of some markers similar to that of other Jewish populations, but frequencies of several markers were extremely high or low. Bukharan Jews showed very high frequencies of B(0.243), cDe (0.122), JkA (0.705), HLA-A29 (0.167), A30 (0.116) and B7 (0.124), and AcPA (0.451) and very low ones of O(0.518), CDe(0.422), AcPB (0.513) and GLO1 (0.140). Very high frequencies in Georgian Jews were observed for cDE (0.189), HLA-A3 (0.194), Bw35 (0.300) and GLO1 (0.367). Yet the greatest difference between both populations was in African characters. While in Bukharan Jews Fy was very frequent (0.146) and cDe was the highest observed among Jews (0.122), neither of these markers was detected among the Georgian Jews tested. Yet, another African character, the Gm1,5,10,11,13,14,17,26 haplotype, occurred in both populations (0.028 and 0.042 in Bukharan and Georgian Jews, respectively). Distance measures for Bukharan, Georgian, Iranian, Cochin, and Libyan Jews based on 13 polymorphic loci showed the greatest distance between Cochin Jews and the other populations and the smallest distance between the Georgian and Iranian Jews.

Data are presented which show that the Diego blood groups are not part of the Dombrock or Yt blood group systems and that the locus controlling Di is not closely linked to the loci controlling ABO, Fy, Jk, Kell, MNSs, Rh, Gm, Inv, AcP,ADA, PGD, and UMPK.

The Njinga, a matrilineal kiMbundu-speaking Negro people of northern Angola, inhabited the coast near Luanda during the sixteenth century, and were driven inland by Portuguese expansion subsequently. There is no evidence from the present sterogenetic study that they have received any appreciable contribution of Caucasoid genes. Nor is there any evidence of San ('Bushman') admixture apart from a moderate frequency of Gm; their genetic profile and their anthroposcopic traits disclose a greater similarity to West African than to Southern African Negroes. The present study confirms previous findings on the ABO, MNSs, Kell, Duffy, erythrocyte acid phosphatase, adenosine deaminase and adenylate kinase systems, and contributes the first account of the peptidase A, B, C and D, first and second locus phosphoglucomutase, glucose-6-phosphate dehydrogenase, esterase D, haptoglobin, transferrin, Gm and Inv systems in the Njinga.

Iranian Jews represent a very ancient Jewish community with a high frequency of inbreeding. A sample of Iranian Jews, mainly unrelated students, was tested for genetic markers of red blood cells and serum. The frequency of glucose-6-phosphate dehydrogenase deficiency was not uniform among Jews who had lived in different areas of Iran; it was lower among those from central Iran (6.7%) than in those from southern and western Iran (16.7% and 20.6%, respectively). The frequencies of B, CDe, cDE, S, and K alleles were among the highest recorded in Jewish ethnic groups. Iranian Jews were similar to Iraqi Jews with respect to the frequencies of the blood markers B, CDe, cde, cDe, ACP, PGM1, ADA, and Hp; however, the B and CDe markers occur with similar frequencies among indigenous Iranians. The presence of the cDe allele and the Gm1,5,13,14,17 haplotype in low frequencies indicates black admixture. Mongoloid admixture is indicated by the polymorphism of the Gm1,13,15,16,17 haplotype. The very rare phenotype Gm(3,5,13,14,17) was observed in 4.8% of 167 individuals tested. This phenotype has not been previously observed among Jews.

In this paper we report on the distributions of immunoglobulin allotypes among 564 olive baboons collected at six localities in Kenya. The sample localities and sizes are 1) Lake Magadi, N = 107; 2) Nanyuki, N = 77; 3) Lake Baringo, N = 55; 4) Mosiro, N = 132; 5) Isiolo, N = 36; 6) Gilgil, N = 157. Gm allotypes 1, 10, 13, 15, and 17 are polymorphic among these samples. Gm(11) and Km(3) were present in all samples, and Gm(2,3,5,6,14,16,21,24,26) and Km(1) were absent from all samples. The proportions of individuals positive for polymorphic allotypes varied substantially between different local samples, as did the arrays and estimated frequencies of haplotypes. Allotype frequencies in local samples do not appear to be simply related to either geographic location or habitat characteristics of the localities. Our data suggest that much of the geographic variability in Kenya olive baboon populations occurs between populations separated by small geographic distances.

The observed frequency of apparent homozygotes for HLA--B27 (15.5%) was significantly greater than the estimated expected frequency (4.2%) among 58 B27-positive Caucasian patients with ankylosing spondylitis (AS) (P less than 0.0005). Search of the literature uncovered four other studies in each of which the frequency of apparent homozygotes was shown by our analysis to be greater than expected. These analyses indicated that B27 homozygotes are more susceptible to developing AS than are B27 heterozygotes. Comparison of the clinical features of AS showed no differences between heterozygotes and apparent homozygotes except for a higher frequency of involvement of peripheral joints in the latter group.