地中海贫血206例基因诊断与分析  

Genetic analysis in 206 patients with thalassemia

作　　者：邝昊宇[1] 方小敏[1] 李小冰[1] 刘丽琴[2] 

机构地区：[1]广东省珠海市中山大学附属第五医院检验科,519000 [2]广东省湛江市广东医学院附属医院检验科,524001

出　　处：《临床合理用药杂志》2016年第14期17-18,12,共3页Chinese Journal of Clinical Rational Drug Use

摘　　要：目的了解湛江市人群地中海贫血的基因型分布情况,用于指导临床遗传咨询,避免高风险地区严重类型地贫患儿的出生。方法以2013年9月-2014年8月在广东医学院附属医院进行地中海贫血基因分析者为研究对象。基因型确诊运用PCR法或PCR结合反向点杂交技术进行地中海贫血常见突变分析。结果在510例受检人群中,经基因诊断后,确诊为地中海贫血基因携带者206例。其中检出α地中海贫血125例(60.68%);检出β地中海贫血78例(37.86%);β地中海贫血复合α地中海贫血基因携带者3例(1.46%)。5种常见α地中海贫血缺失型基因的突变频率是:--SEA/αα为58.40%,-α3.7/αα为14.40%,-α4.2/--SEA为8.00%,-α3.7/--SEA为7.20%,-α4.2/αα为6.40%;4种常见β基因突变类型的构成比是:41-42M为38.46%,654M为28.21%,-28M为11.54%,17M为6.41%。结论本研究获得了湛江市人群地中海贫血基因型分布情况,为湛江市开展地贫人群遗传咨询、产前诊断和预防计划提供有价值的资料,是降低高危地域严重类型地贫患儿的出生的有效手段。Objective To understand the distribution of thalassemia mutation gene in Zhanjiang City,to provide information for clinical genetic counseling and avoid the birth of severe thalassemia children. Methods The people who seeking medical consultation in the hospital were selected genetic mutation analysis by using PCR combined with reverse dot blot technology. Results Totally 510 persons were screened and 206 thalassemia carriers were detected including 125（ 60. 68%）α- thalassemia carriers,78（ 37. 86%） β- thalassemia carriers and 3（ 1. 46%） α,β- thalassemia carriers. Five common α- thalassemia deletion mutation frequency were--SEA/ αα（ 58. 40%）;- α3. 7/ αα（ 14. 40%）;- α4. 2/--SEA（ 8. 00%）;- α3. 7/--SEA（ 7. 20%）;- α4. 2/ αα（ 6. 40%）. The constituent ratio of common β- thalassemia gene mutation types were41- 42M（ 38. 46%）; 654M（ 28. 21%）;- 28M（ 11. 54%）; 17M（ 6. 41%）. Conclusion The distribution of thalassemia mutation gene in Zhanjiang City have been revealed to provid valuable information for thalassemia consultation,prenatal screening and prevention of the disease,being effective measures to reinforce the birth of severe thalassemia children.

关 键 词：地中海贫血 基因诊断 分布情况 

分 类 号：R440[医药卫生—诊断学] R556.61[医药卫生—临床医学]