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尼日利亚的基因变异研究。II. 多指畸形的遗传学

The study of genetic variation in Nigeria. II. The genetics of polydactyly.

作者信息

Scott-Emuakpor A B, Madueke E D

出版信息

Hum Hered. 1976;26(3):198-202. doi: 10.1159/000152803.

Abstract

The analysis of polydactyly in the Nigerian population has revealed a frequency of 22.78 per thousand, with slight variations from one region of the country to another. All polydactyly was post-axial and most was of type B. Although we expected this frequency to be the same in both males and females, we observed that females have a significantly lower frequency (17.92 per thousand) than the males (27.08 per thousand). This condition appears to be inherited as an autosomal dominant gene with a penetrance of 64.9%, and highly variable expressivity. There does not seem to be any phenotypic difference between individuals who are homozygous and those who are heterozygous for the gene.

摘要

对尼日利亚人群多指畸形的分析显示,其发生率为千分之22.78,该国不同地区略有差异。所有多指畸形均为轴后型,且大多数为B型。尽管我们预期该发生率在男性和女性中相同,但我们观察到女性的发生率(千分之17.92)明显低于男性(千分之27.08)。这种情况似乎作为一种常染色体显性基因遗传,外显率为64.9%,且表现度高度可变。对于该基因,纯合子个体与杂合子个体之间似乎没有任何表型差异。

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