Old J M, Petrou M, Modell B, Weatherall D J
Br J Haematol. 1984 Jun;57(2):255-63.
The feasibility of using restriction fragment length polymorphisms ( RFLPs ) for the antenatal diagnosis of beta thalassaemia in the U.K.-resident Cypriot and Asian Indian populations has been determined. Seven polymorphic restriction endonuclease sites in the beta globin gene cluster were analysed in 20 Cypriot and 42 Asian patients and their parents and the combination of polymorphic sites (haplotype) for each chromosome determined. It was found that 76% of the Asian and 35% of the Cypriot families had DNA polymorphisms which would allow antenatal diagnosis of a homozygous beta thalassaemic fetus, and that in the majority of the remaining families there was a 50% chance of a successful diagnosis of either a normal or a heterozygous fetus. These results indicate that RFLP analysis of fetal DNA is a useful method for antenatal diagnosis of beta thalassaemia in families with either a normal or homozygous beta thalassaemia child, especially in the Asian population in the U.K.
在居住于英国的塞浦路斯人和亚洲印度人群体中，已确定使用限制性片段长度多态性（RFLP）进行β地中海贫血产前诊断的可行性。对20名塞浦路斯患者、42名亚洲患者及其父母的β珠蛋白基因簇中的7个多态性限制性内切酶位点进行了分析，并确定了每条染色体的多态性位点组合（单倍型）。结果发现，76%的亚洲家庭和35%的塞浦路斯家庭具有DNA多态性，这使得能够对纯合β地中海贫血胎儿进行产前诊断，并且在大多数其余家庭中，成功诊断正常或杂合胎儿的几率为50%。这些结果表明，对胎儿DNA进行RFLP分析是对生育过正常或纯合β地中海贫血患儿家庭进行β地中海贫血产前诊断的一种有用方法，尤其是在英国的亚洲人群体中。
