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在西西里岛东部发现的一种与杂合β地中海贫血相关的向左缺失型α+地中海贫血。

A leftward deletional alpha+ thalassemia found in East Sicily in conjunction with heterozygous beta-thalassemia.

作者信息

Troungos C, Krishnamoorthy R, Lombardo T, Sortino G, Cacciola E, Labie D

出版信息

Hum Genet. 1984;67(2):216-8. doi: 10.1007/BF00273005.

Abstract

Two types of alpha+ thalassemia (-alpha l) have been described, respectively termed leftward and rightward, which correspond to nonhomologous crossing-over in different homology zones X and Z within the alpha-globin gene cluster. Up to now the leftward type has been described only in Asiatic populations, whereas the rightward type is universally distributed. We report here a first case of leftward deletion observed in a Sicilian male. This raises the question of an identical or not crossing-over event.

摘要

已描述了两种类型的α+地中海贫血(-α1),分别称为向左型和向右型,它们分别对应于α珠蛋白基因簇内不同同源区域X和Z中的非同源交叉。到目前为止,向左型仅在亚洲人群中被描述过,而向右型则普遍分布。我们在此报告在一名西西里男性中观察到的首例向左缺失病例。这就提出了交叉事件是否相同的问题。

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