一种新的遗传模型提出，硒（Se）基因是与H基因紧密连锁的结构基因。
A new genetic model proposing that the Se gene is a structural gene closely linked to the H gene.
作者信息
Oriol R, Danilovs J, Hawkins B R
出版信息
Am J Hum Genet. 1981 May;33(3):421-31.
Abstract
The Se gene is classically considered as a regulatory gene controlling the expression of the structural gene H in external secretions. Under this hypothesis, Bombay (h/h) individuals should not be able to express the Se gene. Statistical analysis of the 44 published Bombay pedigrees suggests on the contrary that there is no suppression of Se in Bombay individuals, and that both Se and H loci can be fully expressed at the phenotypic level. Based on a lod score of 12.9 at 1% recombination units and the existence of two different acceptors for the biosynthesis of the H antigen, a new genetic model is proposed in which H and Se would be two closely linked structural genes coding for two different 2-alpha-L-fucosyltransferases.
摘要
Se基因传统上被认为是一个调控基因，控制结构基因H在外部分泌物中的表达。根据这一假说，孟买型（h/h）个体应该无法表达Se基因。对已发表的44个孟买型家系的统计分析却表明，相反，孟买型个体中Se基因并没有受到抑制，并且Se和H基因座在表型水平上都可以充分表达。基于1%重组单位时12.9的连锁值以及H抗原生物合成存在两种不同的受体，提出了一种新的遗传模型，其中H和Se是两个紧密连锁的结构基因，编码两种不同的2-α-L-岩藻糖基转移酶。
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