title: [Studies of beta-thalassemia mutations and prenatal diagnosis in Guangxi, Guangdong and Sichuan Provinces of south China].
abstract: beta-Thalassemia is one of the most common single gene disorders in South China, and ten different point mutations and frameshifts have been observed among Chinese. We studied 150 chromosomes of 95 beta-thalassemia patients from Guangxi, Guangdong and Sichuan Provinces using the polymerase chain reaction followed by dot hybridization with specific oligonucleotide probes. The most common mutations were the frameshift at codon 41-42 and the nonsense mutation at codon 17 in Guangxi and Sichuan, and the codon 41-42 frameshift and IVS-II-654 mutation in Guangdong. The A-G mutation at -28 of the promoter was common in Sichuan but not in the other two provinces. Three mutations, -30, IVS-I-1 and IVS-I-5, were not observed. A prenatal diagnosis program using these techniques has been initiated based on these data. Fourteen pregnancies at risk for beta-thalassemia have been diagnosed successfully.
authors: Institute of Basic Medical Sciences, Beijing.
authors: J
authors: J
authors: Liu
mesh_terms: D002681:China; D003062:Codon / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon