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To present new molecular genetic data on primary congenital glaucoma from 2 families, 1 isolated case and 3 familial cases due to mutations in the cytochrome P-450 1B1(CYP1B1) gene.

Genetic variation, using blood groups and red cell and serum proteins, was surveyed in the Cabecar of Chirripo and the Huetar of Quitirrisi, Costa Rica. Thirty‐nine loci were screened in a sample of 91 Cabecars and 40 loci in 45 Huetars. Twenty‐seven loci were monomorphic in the Cabecar and 30 in the Huetar. The proportions of polymorphic loci (P), out of 34 studied by electrophoresis, were 0.235 and 0.177, respectively. Estimated gene diversities (Ĥ) of the polymorphic loci were 0.050 in the Cabecar and 0.053 in the Huetar. Two polymorphisms, reported until now in Costa Rican and Panamanian Chibchan groups only, occurred at very high frequencies: TF*DGUA = 0.357 in the Cabecar, the highest frequency ever reported, and 0.033 in the Huetar; and PEPA*F, which reached 0.26 in the Cabecar and 0.29 in the Huetar. Nei's genetic distances and trees (two methods) were used to compare them to seven other Chibchan tribes of Costa Rica. The results placed both the Cabecar of Chirripo and the Huetar closer to the Talamancan Tribes (Bribri and Cabecar). This was an unexpected result for the Huetar, since linguistic studies suggested a closer relationship to the Guatuso. GST, DST, RST, and D̄mfor three Cabecar subpopulations (Atlantic, Chirripo, and Pacific) doubled their values compared to estimates based on comparison of only two subpopulations: Atlantic and Pacific. Total genetic diversity considering just the three Cabecar subpopulations resembled that obtained including them plus six other Chibchan populations of Costa Rica. Am. J. Hum. Biol. 13:57–64, 2001. © 2001 Wiley‐Liss, Inc.

The X-chromosome activity states of 11 manifesting carriers of dystrophinopathies, all with normal karyotypes, were estimated by restriction fragment length polymorphism (RFLP)-methylation analysis with the probes M27ß (DXS255), p2-19(DXS605) and pSPT/PGK (PGK1) to test the role of skewed X-inactivation ratios as the cause of their affected phenotypes. In eight cases preferential inactivation of the putative X chromosome carrying the normal dystrophin allele in =90% of their peripheral lymphocytes was observed, two cases showed non-appparent deviant ratios (60:40 and 70:30) from the theoretically expected values around the mean of 50% and in one case the three markers employed yielded no information. The analysis of the X-inactivation ratio in six mother-daughter pairs, all non-manifesting Duchenne muscular dystrophy (DMD) carriers, and in the close female relatives of the patients showed: (a) neither of the two X chromosomes was preferentially inactivated with respect to their parental origin; (b) a high concordance among the activation ratios of mothers and daughters, a result difficult to explain just in terms of random X-chromosome inactivation.

A new 3.8-kb allele at the 5' region of the PGK 1 locus detected by the probe pSPT/PGK is reported. This variant was discovered in the Cabecar and Guaymi, two Chibchan Amerindian groups of Costa Rica. So far, a polymorphism that consists of an EcoRI/BglI (1.3-kb) variable site within an EcoRI/BglII (1.7-kb) fragment when DNA is simultaneously digested with EcoRI, BglI and BglII is known to occur in black and Caucasian populations. These two alleles were also found in the Amerindians tested. The newly described band is due to the lack of the BglII site situated 1.7 kb downstream from the EcoRI site and to the cleavage of another BglII site 2.1 kb downstream from the lacking one. This variant might be restricted to some Amerindian groups and perhaps also to Asiatic populations. Thus, it could be a useful marker in evolutive studies and for forensic applications. Moreover, the presence of a third allele in populations with Amerindian ancestry can increase the heterozygosity of the region disclosed by the pSPT/PGK probe, thus improving its application in issues dealing with X-chromosome activation ratios in females.