title: BamH1 polymorphism in the Chinese, Malays, and Indians in Singapore and its application in the prenatal diagnosis of beta-thalassemia.
abstract: The distribution of restriction fragment length polymorphism (RFLP) at the BamH1 site of the beta-globin gene was investigated in the Chinese, Indian, and Malay race in Singapore. The sample comprised of 183 normal individuals and 35 beta-thalassemia carriers in which 13 were couples with at least one beta-major child. The results from this study indicate that BamH1 polymorphism will be informative in 22% of pregnancies at risk for beta-thalassemia major in Chinese, 19% in Malays and 7% in Indians. In prenatal diagnosis using BamH1 polymorphism for one beta-major affected family, the fetus was diagnosed to be normal or beta-carrier. The validity of BamH1 polymorphism in the exclusion of beta-thalassemia major was subsequently confirmed at birth by globin chain biosynthesis.
authors.affiliation: Department of Pediatrics, National University of Singapore.
authors.forename: J A
authors.initials: JA
authors.lastname: Tan
authors.forename: S H
authors.initials: SH
authors.lastname: Tay
authors.forename: K Y
authors.initials: KY
authors.lastname: Kham
authors.forename: H B
authors.initials: HB
authors.lastname: Wong
mesh_terms: D002648:Child; D002681:China / Q000208:ethnology; D015245:Deoxyribonuclease BamHI; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D007194:India / Q000208:ethnology; D008296:Malaysia / Q000208:ethnology; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012846:Singapore; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics
chemical_list: D005914:Globins; D015245:Deoxyribonuclease BamHI