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与德国家庭中血红蛋白病和地中海贫血相关的β-珠蛋白基因的DNA多态性模式:与其他种族群体的比较。

DNA-polymorphic patterns linked to the beta-globin genes in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups.

作者信息

Oehme R, Kohne E, Horst J

出版信息

Hum Genet. 1985;71(3):219-22. doi: 10.1007/BF00284577.

Abstract

DNA haplotype constellations of the beta-globin gene cluster have been analyzed in German families with hemoglobinopathies (Hb Freiburg, Hb Köln, Hb Presbyterian) and beta-thalassemias. The polymorphic patterns obtained were compared to those found in families from Greece, Italy, and Turkey affected by beta-thalassemia syndromes. With the combined analysis of seven restriction site polymorphisms a DNA-diagnostic prediction for additional offspring could be made with an overall frequency of 75% in the four ethnic groups.

摘要

对患有血红蛋白病(弗赖堡血红蛋白、科隆血红蛋白、长老会血红蛋白)和β地中海贫血的德国家庭中的β珠蛋白基因簇的DNA单倍型星座进行了分析。将获得的多态性模式与受β地中海贫血综合征影响的希腊、意大利和土耳其家庭中发现的模式进行了比较。通过对七个限制性位点多态性的综合分析,可以对四个种族群体中的其他后代进行DNA诊断预测,总体频率为75%。

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