四川医学2017，Vol.38Issue(11)：1304-1306,3.DOI:10.16252/j.cnki.issn1004-0501-2017.11.021
四川地区α地中海贫血基因检测结果及分布特征分析
Detection and Distribution Characteristics of Alpha-thalassemia Gene in Sichuan
贺钰磊 1徐鸣 1谢雅梅 1周敏 1史宏 1李蕙 1李丹1
作者信息
- 1. 成都市妇女儿童中心医院儿童血液科,产前诊断科,四川成都610091
- 折叠
摘要
Abstract
Objective To analyzing the genetic detection and genetic distribution characteristics of Alpha-Thalassemia in Sichuan,and provide the basis for the diagnosis and genetic counseling of Alpha-Thalassemia in the region.Methods Choosing 1540 specimens to detect the deletion and mutation of Alpha-Thalassemia gene.The deletion of Alpha-Thalassemia gene was detected by gap-PCR, detecting Southeast Asia deletion type (--SEA/α), right deletion type(-α3.7 /α)and left deletion type(-α4.2 /α).The mutation of Alpha-Thalassemia gene was detected by polymerase chain reaction (PCR)-membrane-reverse dot hybridization, detecting Alpha-Thalassemia HbCS, HbQs, HbWM 3 gene mutations.Results 368 specimens were detected in 1540 specimens of Alpha- Thalassemia,a positive rate of 23.9%.11 genotypes were detected, including 78.8% Southeast Asia deletion type (--SEA/αα),5.98%right deletion type(-α3.7 /αα)and 2.72%left deletion type(-α4.2 /αα).Conclusion The main genotype of AlphaThalassemia is--SEA/ααgenotype.Gene diagnosis can clearly detect the genotype of Thalassemia gene and avoid misdiagnosis , providing basis for genetic counselling and prenatal gene diagnosis strategy .关键词
α地中海贫血/基因诊断/四川Key words
Alpha-thalassemia/gene diagnosis/sichuan分类
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贺钰磊,徐鸣,谢雅梅,周敏,史宏,李蕙,李丹..四川地区α地中海贫血基因检测结果及分布特征分析[J].四川医学,2017,38(11):1304-1306,3.
