血红蛋白O-阿拉伯型[β121（GH4）谷氨酸→赖氨酸]：两个地中海家族中与非洲血统DNA多态性的关联

Hb O-Arab [beta 121(GH4)Glu-->Lys]: association with DNA polymorphisms of African ancestry in two Mediterranean families.

作者信息

Lacerra G, Fioretti G, Hani A, Duka D, De Angioletti M, Pagano L, Viola A, Desicato S, Ferranti P, Pucci P

机构信息

Istituto Internazionale di Genetica e Biofisica CNR, Napoli, Italia.

出版信息

Hemoglobin. 1993 Dec;17(6):523-35. doi: 10.3109/03630269309043492.

DOI:10.3109/03630269309043492

PMID:7908281

Abstract

Hb O-Arab [beta 121(GH4)Glu-->Lys] was detected in two Mediterranean families, one from Southern Italy and the other from Albania. The GAA-->AAA mutation at codon 121 was characterized by DNA sequencing. The mutant genes were associated with the same beta-globin gene framework variant and with the rare Hpa I/3' beta polymorphic restriction site generating a 7.0 kb fragment. However, at 5' the gene of the Italian family was associated with the restriction fragment length polymorphism subhaplotype [+ - - - +] and the Taq I/3'G gamma polymorphic site, while that of the Albanian family was associated with subhaplotype [- - - - +] but not with the Taq I/3'G gamma site. The particular features of these polymorphisms support the hypothesis of an African origin for the Hb O-Arab gene and a subsequent recombination event leading to the haplotype found in the Italian family.

摘要

在两个地中海家庭中检测到了Hb O-Arab [β121(GH4)谷氨酸→赖氨酸]，一个来自意大利南部，另一个来自阿尔巴尼亚。通过DNA测序对密码子121处的GAA→AAA突变进行了特征分析。突变基因与相同的β-珠蛋白基因框架变体以及产生7.0 kb片段的罕见Hpa I/3'β多态性限制性位点相关。然而，在5'端，意大利家庭的基因与限制性片段长度多态性单倍型[+ - - - +]和Taq I/3'Gγ多态性位点相关，而阿尔巴尼亚家庭的基因与单倍型[- - - - +]相关，但与Taq I/3'Gγ位点无关。这些多态性的特殊特征支持了Hb O-Arab基因起源于非洲的假说以及随后导致意大利家庭中发现的单倍型的重组事件。