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在阿尔及利亚β地中海贫血患者中观察到四种新的单倍型。

Four new haplotypes observed in Algerian beta-thalassemia patients.

作者信息

Beldjord C, Lapouméroulie C, Baird M L, Girot R, Adjrad L, Lenoir G, Benabadji M, Labie D

出版信息

Hum Genet. 1983;65(2):204-6. doi: 10.1007/BF00286665.

Abstract

beta-Thalassemia, a heterogeneous group of human anemias affecting the expression of beta-globin, is caused by a number of molecular defects. Restriction endonuclease mapping of ethnic populations has revealed many polymorphisms within and around the beta-like globin genes, combinations of which are assigned as haplotypes. Several haplotypes appear to be strongly linked with the molecular defects causing thalassemia in Greek and Italian patients (Orkin et al. 1982). We describe here haplotypes from 40 Algerian beta-thalassemic patients and eight normals determined by restriction endonuclease mapping at seven polymorphic sites. Four haplotypes previously unreported were observed in these thalassemic patients; this argues the existence in this population of undescribed beta-thalassemia alleles. The knowledge of the haplotypes in thalassemic families could be used for prenatal diagnosis of homozygote forms.

摘要

β地中海贫血是一组影响β珠蛋白表达的人类异质性贫血症,由多种分子缺陷引起。对不同种族人群的限制性内切酶图谱分析揭示了β样珠蛋白基因内部和周围的许多多态性,这些多态性的组合被指定为单倍型。在希腊和意大利患者中,有几种单倍型似乎与导致地中海贫血的分子缺陷密切相关(奥金等人,1982年)。我们在此描述了通过对40名阿尔及利亚β地中海贫血患者和8名正常人在7个多态性位点进行限制性内切酶图谱分析所确定的单倍型。在这些地中海贫血患者中观察到了四种以前未报告的单倍型;这表明该人群中存在未被描述的β地中海贫血等位基因。了解地中海贫血家族中的单倍型可用于纯合子形式的产前诊断。

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