四川泸州地区α珠蛋白生成障碍性贫血基因诊断结果分析

摘要

Objective To analyze the genetic mutation patterns and the constituent ratio of α-thalassemia in Luzhou area and to investigate the clinical application value of the gene diagnosis .Methods The PCR method combined with DNA chip hybridization technique was adopted to conduct the gene detection and analysis on 116 cases of suspectedα-thalassemia .Results Among 116 sus-picious cases of α-thalassemia ,39 cases were found with genotypes of α-thalassemia ,the detection rate was 33 .62% .7 kinds of mu-tation genotypes were detected ,in which the deletion type of - -αSEA/ααaccounted for 41 .03% and the deletion type of -α3 .7/ααaccounted for 25 .64% .Conclusion The main gene mutation of α-thalassemia in Luzhou area is the deletion type of - -αSEA/αα. The gene diagnosis is an important criterion for definitely diagnosing α-thalassemia .%目的：分析四川泸州地区α珠蛋白生成障碍性贫血（简称α地贫）基因突变类型及构成比，探讨基因诊断的临床应用价值。方法采用PCR方法结合DNA芯片杂交技术，对116例可疑α地贫患者进行基因检测分析。结果116例可疑α地贫患者中，39例检出α地贫基因，检出率为33．62％。共检出7种突变基因型，其中--αSEA/αα缺失型占41．03％，-α3．7/αα缺失型占25．64％。结论四川泸州地区α-地贫基因突变以--αSEA/αα缺失型为主；基因诊断是确诊α-地贫的重要标准。