人类多态性角蛋白K4和K5的等位基因频率及分离情况

Allele frequencies and segregation of human polymorphic keratins K4 and K5.

作者信息

Mischke D, Wille G, Wild A G

机构信息

Laboratorium für Biochemie der Hals-Nasen-Ohren-Klinik, Universitätsklinikum Rudolf Virchow, Freie Universität Berlin, Federal Republic of Germany.

出版信息

Am J Hum Genet. 1990 Mar;46(3):548-52.

PMID:1689954

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683635/

Abstract

Two electrophoretic variants for each of the human keratins K4 and K5 that are expressed in squamous nonkeratinizing epithelia lining the upper digestive tract could be distinguished on SDS-PAGE. Based on a sampling size of 1,299 unrelated individuals, calculation of allele frequencies showed the alleles to be in Hardy-Weinberg equilibrium. The genetic basis of this variation was confirmed by both quantitative gene dosage dependence and the transmission of the variants as Mendelian traits in two families. Thus the human keratin genes K4 and K5 are polymorphic, and each presents with two codominant alleles (a and b).

摘要

在上消化道鳞状非角化上皮中表达的人角蛋白K4和K5，各自有两种电泳变体，可在SDS-PAGE上区分。基于1299名无关个体的样本量，等位基因频率计算表明这些等位基因处于哈迪-温伯格平衡。这种变异的遗传基础通过定量基因剂量依赖性以及在两个家族中作为孟德尔性状的变体传递得到证实。因此，人角蛋白基因K4和K5是多态性的，且各自有两个共显性等位基因（a和b）。