突尼西亚家族两代存在P表型,近交率高。

D Salmon, S Bouchmel, A Hafsia, S Boussen, M Boussen, A Bouguerra
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摘要

在一名突尼斯妇女和她的七个孩子中的三个身上发现了p表现型。这一矛盾的结果挑战了关于这种表型的已知假设,这些假设通常认为它是由一种非常罕见的等位基因在双倍剂量下的存在所决定的。对这些对象的近亲交配系数的计算表明,重复通婚使拟配偶与其丈夫的亲属关系系数从0.116(假设每个孩子的祖先未知的女性不同)增加到0.1362(假设祖先未知的女性与兄弟姐妹相同)。因此,近亲繁殖被证明是如此之高,以至于在连续的两代中诱导隐性定义表型的存在。此外,对最后一代基因起源概率的研究表明,BCH祖先可能是p等位基因的携带者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
P phenotype observed in two generations of Tunisian family with a high rate of inbreeding.

A p phenotype was discovered in a Tunisian woman and in three of her seven children. This paradoxical result challenges the known hypotheses on this phenotype, which generally recognise that it is determined by the existence of a very rare allele in a double dose. The computation of the coefficient of inbreeding of these subjects showed that repeated intermarriages increased the coefficient of kinship of the propositus and her husband to 0.116 (if unknown women of the ancestry were assumed to be different for each child) through 0,1362 (if unknown women of the ancestry were assumed to be the same for sibs). Therefore inbreeding was proved to be so high as to induce the presence of a recessively defined phenotype in two successive generations. Moreover, the search for probability of origin of genes of the last generation showed that the BCH ancestor was probably the carrier of the p allele.

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