Chan V, Leung N K, Chan T K, Ghosh A, Kan Y W, Todd D
Br Med J (Clin Res Ed). 1984 Oct 13;289(6450):947-8. doi: 10.1136/bmj.289.6450.947.
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.
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。
