Brunet G, Ducluzeau M T, Roda L, Lefrancois P, Baklouti F, Delaunay J, Robert J M
Département de Démographie et Génétique, Faculté de Médecine Grange-Blanche, Lyon, France.
J Biosoc Sci. 1993 Apr;25(2):239-47. doi: 10.1017/s0021932000020526.
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.
杂合子4.1（-）遗传性椭圆形红细胞增多症是由于缺乏一组单倍体的蛋白质4.1所致，蛋白质4.1是红细胞骨架的主要成分。两项连续的流行病学调查在法国北部阿尔卑斯山发现了15名先证者。在阿拉维斯山区与世隔绝的四个小村庄中，这种疾病的发病率似乎非常高。系谱研究表明，11名先证者有共同的祖先，这些祖先生活在八代或十代以前的这些村庄。因此，可能存在一对祖先的奠基者效应，并因近亲通婚而得到强化。相比之下，有4名先证者来自另一个地区，在系谱上没有关联。分子遗传学的最新研究结果支持了目前的数据。
