人α-岩藻糖苷酶的多态性
Polymorphism of human alpha fucosidase.
作者信息
Turner B M, Turner V S, Beratis N G, Hirschhorn K
出版信息
Am J Hum Genet. 1975 Sep;27(5):651-61.
Abstract
A common polymorphism of human alpha fucosidase has been detected by the technique of isoelectric focusing on thin layer acrylamide gel. Family studies have shown that the three common phenotypes Fu 1, Fu 2, and Fu 2-1 represent homozygosity or heterozygosity for two autosomal codominat alleles, Fu1 and Fu2. Frequencies of the Fu1 and Fu2 alleles in the New York populations studied were .753 and .247 among whites and .926 and .074 among blacks, respectively.
摘要
通过在薄层丙烯酰胺凝胶上进行等电聚焦技术，已检测到人类α-L-岩藻糖苷酶的一种常见多态性。家系研究表明，三种常见表型Fu 1、Fu 2和Fu 2-1代表两个常染色体共显性等位基因Fu1和Fu2的纯合性或杂合性。在所研究的纽约人群中，白人中Fu1和Fu2等位基因的频率分别为0.753和0.247，黑人中分别为0.926和0.074。
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