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巴勒斯坦西岸的β(S)-珠蛋白基因簇单倍型

beta(S)-Globin gene cluster haplotypes in the West Bank of Palestine.

作者信息

Samarah Fekri, Ayesh Suhail, Athanasiou Miranda, Christakis John, Vavatsi Norma

机构信息

Department of Biochemistry, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.

出版信息

Hemoglobin. 2009;33(2):143-9. doi: 10.1080/03630260902861873.

Abstract

Sickle cell disease is an inherited autosomal recessive disorder of the beta-globin chain. In Palestine it is accompanied by a low level of Hb F (mean 5.14%) and a severe clinical presentation. In this study, 59 Palestinian patients, homozygotes for Hb S were studied for their haplotype background. Eight polymorphic sites in the beta-globin gene cluster were examined. The Benin haplotype was predominant with a frequency of 88.1%, followed by a frequency of 5.1% for the Bantu haplotype. One chromosome was found to carry the Cameroon haplotype (0.85%). Three atypical haplotypes were also found (5.95%). Heterogeneity was observed in Hb F production, ranging between 1.5 and 17.0%, whereas the (G)gamma ratio was homogeneous among all haplotypes with a normal amount of about 41%. Our results are in agreement with previous reports of the Benin haplotype origin in the Mediterranean.

摘要

镰状细胞病是一种β珠蛋白链的常染色体隐性遗传疾病。在巴勒斯坦,它伴随着低水平的胎儿血红蛋白(平均5.14%)和严重的临床表现。在本研究中,对59名纯合子血红蛋白S的巴勒斯坦患者进行了单倍型背景研究。检测了β珠蛋白基因簇中的8个多态性位点。贝宁单倍型占主导,频率为88.1%,其次是班图单倍型,频率为5.1%。发现一条染色体携带喀麦隆单倍型(0.85%)。还发现了三种非典型单倍型(5.95%)。观察到胎儿血红蛋白产生存在异质性,范围在1.5%至17.0%之间,而(G)γ比值在所有单倍型中是均匀的,正常量约为41%。我们的结果与先前关于地中海地区贝宁单倍型起源的报道一致。

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