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Heterozygous 4.1(−) hereditary elliptocytosis results from the absence of one haploid set of protein 4.1, a major component of the red cell skeleton. Two successive epidemiological investigations revealed fifteen probands in the French Northern Alps. The frequency of this disease seems to be very high in four small villages isolated in the Aravis mountains. The genealogical study shows that eleven probands share common ancestors who lived eight or ten generations ago in these villages. Thus there was probably a founder effect from one pair of ancestors, strengthened by endogamy. In contrast, four probands originate from another area and are not genealogically related. Recent results in molecular genetics support the present data. [ABSTRACT FROM PUBLISHER]

Abandoning a child was no rare deed in European towns in the nineteenth century, mostly among single women in underprivileged environments. On the other hand, taking this same child back was more unusual. By analyzing the registers of the Lyon hospitals, it is possible to determine the percentage of children taken back by their mothers, how this was actually achieved, and to examine the family status of the mothers at the time of both events. Both of these acts -- abandoning a child and then taking it back -- can be put back in their context in these women's lives, for instance, by looking into the length of time separating the two procedures. To finish with, it appears that the 'Hospices civils de Lyon' encouraged mothers to take the children back and generally had a conciliatory attitude toward them, supposedly in the children's interest.

This work is based on 54 probands affected by oculopharyngeal muscular dystrophy (OPMD). The muscle biopsy of all these patients showed the presence of the intranuclear inclusions, specific of this disease. The residence of the probands is concentrated in three clusters: the Paris, Marseilles and Bordeaux regions. The genealogical study was carried out on 43 probands, 10 of which did not have any ascendance in France for more than two generations. The geographic origin of the 33 patients of French descent was distributed over numerous regions, not including the Paris and Marseilles regions where many patients lived. This geographic dispersion and the rarity of common genealogies of the probands, did not suggest the existence of a recent founder effect, in contrast to what is observed in the French-Canadian community. The existence of a link between French and French-Canadian families is currently being investigated.

"To study inheritance, it is necessary in the first place to know the number of heirs in each family, how property was divided between them, and whether their inheritance was sufficient to enable them to maintain and support several children in the parish. This study examines the process by which the populations of the parishes of Valserine Valley in France reproduce themselves from one generation to the next, by means of examining the ¿effective' progeny of couples to determine how many of them produce children (heirs) who continue to live in the Valley. The ultimate goal of these researches is to establish the characteristics of those who leave the Valley, and how these differ from those who choose to stay. The article examines whether it is possible to discern a family strategy in the way these decisions are made, and whether behavior of the persons in question is determined by individual choice.", (excerpt)

This article examines the descendants of four cohorts of couples formed in the seventeenth and eighteenth centuries (two cohorts in two French mountain valleys and one on the Ile-d'Orléans in Quebec). The children are separated into four categories according to their fate (deceased while still unmarried, unknown fate, married but childless, "useful children"). "Useful children", a concept used in population genetics, are those who in turn bear children. In all three places, the useful children represent only from 26 to 31% of births. The study goes on to measure the contributions made by these couples to the next generation. In the mean, each couple gave birth to little over one useful child. But the contributions of couples turns out to be very unequal. Depending on the place, from 36 to 53% of couples left no useful children behind them, while a small minority of couples made an ample contribution to the next generation. The same measure is reproduced in the constitution of the next generation, thereby showing that inequality of couples in terms of reproduction is perpetuated.

Druillat, a parish in Bresse, welcomed a lot of abandoned infants who had been found a foster home by Lyons Hôtel-Dieu (hospital) during the second half of the eighteenth century. After specifying the annual volume of this incoming flow, the arrival of each infant at its foster home is considered. The notion of foster home covers in diversified family situations as far as the number of native children and infants are concerned. Through the comparison of deaths recorded locally and the Hôtel-Dieu register keeping lists of the infants' placements, the mortality of foster infants can be precise and compared to that of natives. The age at which they were put out to nurses and the host family standards of living, plays a fundamental role as far as the infant mortality risks are concerned.

An important concentration of patients with Rendu-Osler disease occurs in the Valserine valley of the French Jura. A study of marriages shows that, in spite of its somewhat remote location, the valley cannot be considered an isolate, but that, on the contrary, exogamy is widely practised. Only 17.8% of the genes of inhabitants during the present century can be traced to the original population, but persons affected with the disease belong to a subgroup of the population which has lived in the villages for more than 10 generations. All the patients in 85 sibships are related. The smallest number of originator couples who lived at the beginning of the eighteenth century amounts to 16, the unique originator may therefore have lived approximately four generations earlier. However, as other patients who lived at the periphery of the Valserine valley do not appear to be related to any patients living in the valley, and because there has been considerable immigration into the valley, a number of hypotheses to explain the distribution of the disease in the region remain possible.

4.1(-) hereditary elliptocytosis (HE) is a variety of elliptocytosis resulting from the reduction (heterozygosity) or the absence (homozygosity) of protein 4.1. It is nearly always encountered in its heterozygous form. It has been found among Caucasians and North Africans in a sporadic fashion. We report the study on nine family cases of 4.1(-) HE. They were recruited independently (to the exclusion of any other variety of HE) in a limited area around the city of Annecy (French Northern Alps). The mode of genetic transmission, as well as the clinical, morphologic, and protein phenotypes fully conformed to the classical description. Western blots ruled out the existence of any protein 4.1 species of abnormal size. No obvious DNA rearrangement was detectable in any of the nine families with three 4.1 cDNA probes covering the entire coding sequence and part of the flanking 5' and 3' untranslated sequences. On the basis of five polymorphic sites (Bgl II, 2; Pvu II, 3), we found five different haplotypes in normal members of the 4.1(-) families. 4.1(-) HE was associated with the most common haplotype in all the propositi. 4.1 mRNA was studied in four families. Dot-blot hybridization experiments and Northern blots failed to show any detectable change in three families. On the other hand, they showed a 2-kb deletion in the 4.1(-) messenger RNA 5'-moiety in one family. These findings emphasize the heterogeneity of 4.1(-) HE at the molecular level.

Marriage-first birth intervals are examined in two historical populations, Quebec (1608-1765) and Haut-Jura (1689-1980), comparing intervals in mothers and daughters, and in sister-sister pairs. The results point to a weak relationship between intervals of mothers and daughters, though it does not attain significance. Shared environment does not seem to be responsible since there is no association between pairs of sisters from the same populations.

The first results of a collaborative study aimed at collecting all French families affected by oculopharyngeal muscular dystrophy (OPMD) and their genealogy are presented. The study was carried out in 28 families in whom the diagnosis of OPMD in the propositus was confirmed by the presence of typical intranuclear tubulo-filamentous inclusions in the muscle biopsy. Results suggest that the prevalence of OPMD in France is at least of 1/200,000. The disease has been observed in many countries but to our knowledge no epidemiological studies have been reported so far. However, it is known to be particularly frequent in the French-Canadian community living in Canada and USA. In the present study genealogical researches were carried out in 18 families. Three families were of Italian and two of Armenian origin. Amongst the 13 families of French ascent, 3 familial relationships were found: one from a couple married in 1783. In the other 10 French families, no interlineage was discovered in a genealogical enquiry pursued back to the 18th century. Further studies are needed to find out whether there was only one mutation responsible for all French cases or whether several mutations occurred in France, as suggested by the present study. It would be also interesting to ascertain whether there is a parental link between the French and the French-Canadian OPMD patients, the latter considered to be descendants of a couple who emigrated to Quebec in 1634.