β珠蛋白基因簇中的减数分裂重组导致β地中海贫血产前诊断出现错误。

Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.

作者信息

Camaschella C, Serra A, Saglio G, Bertero M T, Mazza U, Terzoli S, Brambati B, Cremonesi L, Travi M, Ferrari M

机构信息

Dipartimento di Scienze Biomediche ed Oncologia Umana, Università di Torino, Italy.

出版信息

J Med Genet. 1988 May;25(5):307-10. doi: 10.1136/jmg.25.5.307.

DOI:10.1136/jmg.25.5.307

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050455/

Abstract

In the course of a prenatal diagnosis for beta thalassaemia by linkage analysis of restriction fragment length polymorphisms, a homozygous beta thalassaemia fetus was misdiagnosed as beta thalassaemia trait. Extensive studies of the polymorphic sites within the beta globin gene cluster in all the members of the family resulted in the conclusion that the paternal chromosome 11 of the newborn was different from that expected. Paternity was confirmed by HLA typing and blood group studies. The analysis of another polymorphic locus on chromosome 11 within the family was in agreement with the possibility of a crossing over between the two paternal chromosomes in a region 5' to the beta gene, previously indicated to contain a 'hot spot' area for recombination. This report underlines the risk of performing prenatal diagnosis using restriction polymorphisms 5' to the beta gene.

摘要

在通过限制性片段长度多态性连锁分析进行β地中海贫血产前诊断的过程中，一名纯合子β地中海贫血胎儿被误诊为β地中海贫血性状。对该家庭所有成员β珠蛋白基因簇内多态性位点的广泛研究得出结论，新生儿的父源11号染色体与预期不同。通过HLA分型和血型研究证实了亲子关系。对该家庭11号染色体上另一个多态性位点的分析与两条父源染色体在β基因5'端区域发生交叉的可能性相符，此前表明该区域含有一个重组“热点”区域。本报告强调了使用β基因5'端限制性多态性进行产前诊断的风险。

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引用本文的文献

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Meiotic recombination in an Irish family with beta-thalassaemia.

Hum Genet. 1993 Aug;92(1):28-32. doi: 10.1007/BF00216141.

本文引用的文献

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