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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.

DOI:10.1007/BF00284577
PMID:2998970
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%。

相似文献

1
DNA-polymorphic patterns linked to the beta-globin genes in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups.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。
Hum Genet. 1985;71(3):219-22. doi: 10.1007/BF00284577.
2
DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene.DNA限制酶切图谱分析确定了携带突变型长老会血红蛋白β-珠蛋白基因的染色体。
Hum Genet. 1983;64(3):263-6. doi: 10.1007/BF00279406.
3
Globin gene deletion in HPFH, delta (o) beta (o) thalassaemia and Hb Lepore disease.遗传性胎儿血红蛋白持续增多症、δ（0）β（0）地中海贫血和血红蛋白 Lepore 病中的珠蛋白基因缺失。
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Genetic heterogeneity of thalassemias in Mexican mestizo patients with hemolytic anemia.墨西哥混血儿溶血性贫血患者地中海贫血的遗传异质性。
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Combined effect of two different polymorphic sequences within the beta globin gene cluster on the level of HbF.β珠蛋白基因簇内两个不同多态性序列对胎儿血红蛋白水平的联合效应。
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Hemoglobin Köln: analysis of linkage relationships between the mutant gene and polymorphic restriction sites in the beta-globin gene cluster.血红蛋白科隆：β-珠蛋白基因簇中突变基因与多态性限制性位点之间的连锁关系分析。
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引用本文的文献

1
Haemoglobin Freiburg: direct detection by synthetic oligonucleotide probes.血红蛋白弗莱堡：用合成寡核苷酸探针直接检测
Hum Genet. 1988 Jun;79(2):172-4. doi: 10.1007/BF00280559.
2
Direct mutation analysis of beta-thalassemia genes in families of various ethnic origins residing in Germany.
Blut. 1989 Sep;59(3):237-9. doi: 10.1007/BF00320854.
3
Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron.对德国家庭中β-地中海贫血基因的突变分析揭示了第一个内含子中罕见的颠换。

本文引用的文献

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Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.非洲镰状细胞血红蛋白基因多中心起源的证据。
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Hemoglobin Köln: analysis of linkage relationships between the mutant gene and polymorphic restriction sites in the beta-globin gene cluster.血红蛋白科隆：β-珠蛋白基因簇中突变基因与多态性限制性位点之间的连锁关系分析。
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4
DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene.DNA限制酶切图谱分析确定了携带突变型长老会血红蛋白β-珠蛋白基因的染色体。
Hum Genet. 1983;64(3):263-6. doi: 10.1007/BF00279406.
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Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.人类β-珠蛋白基因簇中β-地中海贫血突变及β-珠蛋白基因多态性与DNA多态性的连锁关系
Nature. 1982 Apr 15;296(5858):627-31. doi: 10.1038/296627a0.
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Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue.弗赖堡血红蛋白：因单个氨基酸残基缺失导致的异常血红蛋白。
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DNA polymorphism and molecular pathology of the human globin gene clusters.人类珠蛋白基因簇的DNA多态性与分子病理学
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