RESUMO

beta-Thalassemia is a common disease in Southern China and 10 different mutations or frameshifts are responsible for most types of beta-thalassemia in this area. We studied 126 chromosomes of 80 beta-thalassemia patients from the Guangxi, Guangdong, and Sichuan Provinces using the polymerase chain reaction followed by dot-blot hybridization with specific oligonucleotide probes. The most common mutation in the three provinces is the frameshift at codons 41-42, followed by the A----T mutation at codon 17. The A----G mutation at nt -29 of the promoter is common in Sichuan but not in the other two provinces. Three mutations (T----C at nt -30; G----T at IVS-I-1, and G----C at IVS-I-5) were not observed. These data were used to initiate a prenatal diagnosis program using the same techniques for identification. Eleven fetuses at risk for beta-thalassemia have been diagnosed.

Assuntos

Globinas/genética , Talassemia/genética , Sequência de Bases , China/epidemiologia , Amostra da Vilosidade Coriônica , Códon , Análise Mutacional de DNA , Sondas de DNA , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/genética , Frequência do Gene , Humanos , Masculino , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Gravidez , Talassemia/diagnóstico , Talassemia/epidemiologia , Talassemia/etnologia