Forty-one families have been studied with stringent diagnostic criteria of Alport syndrome: proven renal disease with hematuria affecting at least two relatives, neural hearing loss in at least one affected individual, and evolution to renal failure in at least one affected individual. The proportion of affected offsprings of affected females does not significantly differ from the ratio expected for a dominant trait. The descendance of affected males shows a lack of affected males. In four families, with parental consanguinity and nonaffected parents, the findings agree with an autosomal recessive inheritance. Study of quantitative traits such as death or renal death among brothers, uncle-nephew pairs and whole families shows evident intra-familial resemblances. We conclude that Alport syndrome seems to be a heterogeneous state composed of a number of genetically distinct syndromes, with an autosomal dominant, an X-linked dominant, and an autosomal recessive form.
SummaryBlood samples collected in four Amerindian French Guiana populations (Palikur, Emerillon, Wayampi and Kali'na) in the early 1980s were screened for selected mtDNA and Y-chromosome length polymorphisms, and sequenced for the mtDNA hypervariable segment I (HVS-I). In addition, two other Amerindian populations (Apalaí and Matsiguenga) were examined for the same markers to establish the genetic relationships in the area. Strong dissimilarities were observed in the distribution of the founding Amerindian haplogroups, and significant p-values were obtained from F ST genetic distances. Interpopulation similarities occurred mainly due to geography. The Palikur did not show obvious genetic similarity to the Matsiguenga, who speak the same language and live in a region from where they could have migrated to French Guiana. The African-origin admixture observed in the Kali'na probably derives from historical contacts they had with the Bushinengue (Noir Marron), a group of escaped slaves who now lead independent lives in a nearby region. This analysis has identified significant clues about the Amerindian peopling of the North-East Amazonian region.
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