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中国人中BamH I多态性：其在β地中海贫血产前诊断中的潜在用途。

BamH I polymorphism in the Chinese: its potential usefulness in prenatal diagnosis of beta thalassaemia.

作者信息

Chan V, Leung N K, Chan T K, Ghosh A, Kan Y W, Todd D

出版信息

Br Med J (Clin Res Ed). 1984 Oct 13;289(6450):947-8. doi: 10.1136/bmj.289.6450.947.

DOI:10.1136/bmj.289.6450.947
PMID:6091839
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1443216/
Abstract

The prevalence of the BamH I site 3' to the beta globin gene in Chinese people was determined in 123 normal subjects, 40 patients with heterozygous beta thalassaemia, and 25 patients with homozygous beta thalassaemia. The site was present in 71.1% and absent in 28.9% of the chromosomes carrying normal beta genes. All 25 patients with beta thalassaemia major had the site. This BamH I polymorphism may be used for prenatal diagnosis in about 29% of the pregnancies at risk.

摘要

在中国人群中，对123名正常受试者、40名杂合子β地中海贫血患者和25名纯合子β地中海贫血患者，测定了β珠蛋白基因3'端BamH I位点的发生率。携带正常β基因的染色体中，该位点的出现率为71.1%，缺失率为28.9%。所有25例重型β地中海贫血患者均有该位点。这种BamH I多态性可用于约29%有风险妊娠的产前诊断。

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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
Prenatal diagnosis of hemoglobinopathies: worldwide experience.血红蛋白病的产前诊断：全球经验
Birth Defects Orig Artic Ser. 1982;18(7):263-74.
3
Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA.β地中海贫血的产前诊断。DNA中单个核苷酸突变的检测。
N Engl J Med. 1983 Aug 4;309(5):284-7. doi: 10.1056/NEJM198308043090506.
4
Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites.通过羊膜穿刺术进行β地中海贫血的产前诊断：利用多个多态性限制性内切酶位点进行连锁分析
Blood. 1980 Nov;56(5):926-30.
5
First-trimester fetal diagnosis for haemoglobinopathies: three cases.孕早期血红蛋白病的胎儿诊断：三例报告
Lancet. 1982 Dec 25;2(8313):1413-6. doi: 10.1016/s0140-6736(82)91324-1.

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