血红蛋白哈沙龙（α47位天冬氨酸被组氨酸取代）携带者中α-珠蛋白基因的组织形式
Organization of alpha-globin genes in Hb Hasharon (alpha 47 asp replaced by his) carriers.
作者信息
Giglioni B, Comi P, Taramelli R, Ottolenghi S, Ciocca-Vasino M A, Anè C, Cappellini M D, Gianni A M
出版信息
Blood. 1980 Dec;56(6):1145-9.
PMID:6254584
Abstract
Restriction enzymes analysis of the DNA from two unrelated Italian families with Hb Hasharon, a variant Hb (alpha 47asp replaced by his) frequently occurring in the Polesine area in Italy, indicates that this variant is associated to an alpha globin gene deletion. The alpha Hash genotype most likely results from a mutation on an alpha thal2 genotype.
摘要
对来自意大利两个无亲缘关系家族的DNA进行限制性内切酶分析，这两个家族都有Hb Hasharon（一种变异血红蛋白，其α链第47位天冬氨酸被组氨酸取代），这种变异在意大利波莱西内地区经常出现，结果表明该变异与α珠蛋白基因缺失有关。α Hash基因型很可能是由α地中海贫血2基因型上的一个突变导致的。
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