关键词: 基因突变, 基因诊断, 地中海贫血

Abstract:

Objective To analyze the types and frequencies of gene mutations for α-thalassemia and β-thalassemia in Quanzhou,and to provide a reference for screening and diagnosing thalassemia in Quanzhou. Methods Reverse dot blot（RDB）-polymerase chain reaction （PCR） was used to determine gene mutations of α-thalassemia and β-thalassemia,while gap （Gap）-PCR was used to determine gene deletion of α-thalassemia. Specimens with suspected rare gene mutations were determined for gene sequencing.Results Among 1 121 specimens,195 cases were determined with β-thalassemia,with a positive rate of 17.40%. IVS-2-654（C→T） heterozygous mutation and CD41-42（-TCTT） heterozygous mutation were the most common gene mutations,accounting for 67.18% （131/195）. A total of 325 cases were determined with α-thalassemia,with a positive rate of 28.99%,and --SEA/αα was the most common gene mutation,accounting for 77.23% （251/325）. There was 1 case with rare Thailand type of deletion heterozygous α-thalassemia （-- Thai /αα）,1 case with α-anti4.2 and 1 case with HbG-Chinese in complex with Hb Westmead mutation. Conclusions There is a high carrier rate of thalassemia in Quanzhou,and the gene mutation types are complex. Therefore,the screening and prenatal diagnosis of thalassemia are of significance.

Key words: Gene mutations, Gene diagnosis, Thalassemia