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J Med Genet. 1988 May;25(5):307-10. doi: 10.1136/jmg.25.5.307.
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A new DNA polymorphism in the beta-globin gene cluster can be used for antenatal diagnosis of beta-thalassaemia.β-珠蛋白基因簇中的一种新的DNA多态性可用于β地中海贫血的产前诊断。
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引用本文的文献

1
Meiotic recombination in an Irish family with beta-thalassaemia.一个患有β地中海贫血的爱尔兰家庭中的减数分裂重组
Hum Genet. 1993 Aug;92(1):28-32. doi: 10.1007/BF00216141.

本文引用的文献

1
Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia.β-珠蛋白基因区域DNA序列的多态性。在撒丁岛β0地中海贫血产前诊断中的应用。
N Engl J Med. 1980 Jan 24;302(4):185-8. doi: 10.1056/NEJM198001243020401.
2
Antenatal diagnosis of haemoglobinopathies by improved method of isoelectric focusing of haemoglobins.
Br J Haematol. 1984 Jun;57(2):265-70.
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Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.妊娠早期镰状细胞贫血的产前诊断。
N Engl J Med. 1983 Oct 6;309(14):831-3. doi: 10.1056/NEJM198310063091405.
4
Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia.利用DNA多态性进行产前诊断。关于95例镰状细胞病或β地中海贫血高危妊娠的报告。
N Engl J Med. 1983 May 5;308(18):1054-8. doi: 10.1056/NEJM198305053081803.
5
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.
6
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.β-珠蛋白基因簇中多态性限制性位点的非随机关联。
Proc Natl Acad Sci U S A. 1982 Jan;79(1):137-41. doi: 10.1073/pnas.79.1.137.
7
Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man.导致δβ地中海贫血和胎儿血红蛋白遗传性持续存在的缺失的不同3'末端点：对人类γ珠蛋白基因表达调控的影响。
Proc Natl Acad Sci U S A. 1983 Nov;80(22):6937-41. doi: 10.1073/pnas.80.22.6937.
8
A new DNA polymorphism for prenatal diagnosis of beta-thalassaemia in Mediterranean populations.
Lancet. 1984 Dec 8;2(8415):1299-301. doi: 10.1016/s0140-6736(84)90820-1.
9
Nonuniform recombination within the human beta-globin gene cluster.人类β-珠蛋白基因簇内的不均一重组
Am J Hum Genet. 1984 Nov;36(6):1239-58.
10
Identification of a recent recombination event within the human beta-globin gene cluster.人类β-珠蛋白基因簇内近期重组事件的鉴定。
Proc Natl Acad Sci U S A. 1984 Dec;81(24):7875-9. doi: 10.1073/pnas.81.24.7875.

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
PMID:2898535
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。