内披蛋白基因的串联重复内部图谱分析（TRIM）：人类群体编码区内的重复次数及重复模式多态性
Tandem-repeat internal mapping (TRIM) of the involucrin gene: repeat number and repeat-pattern polymorphism within a coding region in human populations.
作者信息
Urquhart A, Gill P
机构信息
Central Research and Support Establishment, Forensic Science Service, Reading, England.
出版信息
Am J Hum Genet. 1993 Jul;53(1):279-86.
Abstract
We have analyzed the human involucrin gene in 41 British African-Caribbeans and 37 British white Caucasians by tandem-repeat internal mapping and DNA sequencing. A point mutation (i.e., Bc) in the last B repeat unit was found in 98.6% of British white Caucasians and in 52.4% of British African-Caribbeans. The distribution of repeat patterns was also different between the two populations. Nine previously unreported repeat pattern alleles, 4 with and 5 without the Bc repeat, have been found, increasing the range of variation in humans to 15 reported repeat patterns, 6 with and 9 without the Caucasian mutation. Three further sequence variations, each occurring in a single individual, were found. The evolutionary significance of variation in the human involucrin gene is discussed.
摘要
我们通过串联重复内部定位和DNA测序分析了41名英国非裔加勒比人和37名英国白人的人内披蛋白基因。在98.6%的英国白人中以及52.4%的英国非裔加勒比人中发现了最后一个B重复单元中的一个点突变（即Bc）。两个群体之间重复模式的分布也有所不同。已发现9个先前未报告的重复模式等位基因，其中4个带有Bc重复，5个没有Bc重复，这使得人类中已报告的重复模式变异范围增加到15种，6种带有高加索人突变，9种没有。还发现了另外三个序列变异，每个变异仅出现在一个个体中。本文讨论了人内披蛋白基因变异的进化意义。
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