| 摘要: |
| 目的分析四川地区α地中海贫血(地贫)基因检出情况及基因分布特征,为该地区地贫诊断与遗传咨询提供依据。方法 1540例标本分别检测α地中海贫血基因缺失及突变。α地中海贫血基因缺失采用gap-PCR法检测东南亚型缺失(-SEA/α)、右侧缺失(-α~(3.7)/α)和左侧缺失(-α~(4.2)/α),α地中海贫血基因突变采用聚合酶链反应(PCR)-膜反向点杂交技术检测α地中海贫血HbCS、HbQs、HbWM 3个基因突变。结果 1540例标本共检测出α地中海贫血共368例,阳性率23.9%。共检出11种基因型,其中东南亚型缺失型(-SEA/αα)占78.8%,右缺失型(-α~(3.7)/αα)占5.98%,左缺失型(-α~(4.2)/αα)占2.72%。结论四川地区α地中海贫血中,主要以-SEA/αα基因型为主。基因诊断可检明确检测出地中海贫血基因类型,避免漏诊误诊为遗传咨询和产前基因诊断策略提供依据。 |
| 关键词: α地中海贫血 基因诊断 四川 |
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| Detection and Distribution Characteristics of Alpha-thalassemia Gene in Sichuan |
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He Yulei;Xu Ming;Xie Yamei
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Chengdu Women and Children’s Central Hospital
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| 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 Alpha Thalassemia is--SEA/αα genotype. Gene diagnosis can clearly detect the genotype of Thalassemia gene and avoid misdiagnosis,providing basis for genetic counselling and prenatal gene diagnosis strategy. |
| Key words: Alpha-thalassemia genediagnosis sichuan |
