广西北部湾地区人群地中海贫血基因突变分析  

The analysis on the thalassemia alleles of the Beibu Gulf district in Guangxi

作　　者：庞婉容 龙驹[1,2,3] 叶学和 唐维骏 孙雷 劳可干 颜善活 

机构地区：[1]钦州市妇幼保健院,广西钦州535099 [2]钦州市地方病细胞与分子生物学重点实验室,广西钦州535099 [3]钦州学院,广西钦州535099

出　　处：《中国优生与遗传杂志》2016年第1期39-42,共4页Chinese Journal of Birth Health & Heredity

基　　金：钦州市科学研究与技术开发计划项目支持(合同号20141600901)

摘　　要：目的了解广西北部湾地区人群地中海贫血等位基因分布情况。方法采用Gap-PCR、PCR-RDB、AS-PCR、MLPA和测序等方法,对21 137例受测者进行分析。结果共检出6种常见α地贫等位基因,8种罕见α地贫等位基因,分别是-α21.9、HKαα、--THAI、αααanti3.7、αααanti4.2、Qthailand、α2-α2α1和α2:CD30 GAG>CAG,常见α地贫等位基因占总检出量的99.58%;共检出14种常见β地贫等位基因,7种罕见β等位基因,分别是HPFH、Gγ+(Aγδβ)0、-90M、95M、Int(G>A)M、37M和-50M,常见β地贫等位基因占检出量的99.41%。在研究中,研究组将所检测的Hb A2值和Hb F值根据所测出的地贫基因型进行分类,经数据分析,Hb A2值是较好的预测β地贫基因型阳性的指标,研究组将阳性切值定义为3.2。在检测中也应留意Hb F值较高的个体,以防止缺失型β地贫基因型的漏检。结论广西北部湾地区人群地中海贫血基因携带者较多,在日常检测中,检测中心应遵循血常规、血红蛋白检测和基因分析的检测流程,并配置多种检测方法,以降低该地区人口出生缺陷几率。Objective： To study the distribution of the thalassemia alleles in the Beibu Gulf district of Guangxi. Methods： The Gap-PCR, PCR-RDB, AS-PCR, MLPA and the sequencing were used for genotyping on 21 137 samples. Results： 6 common α-thalassemia alleles were detected, while 8 novel α-thalassemia alleles were detected. The detected novel α-thalassemia alleles include-α21.9, HKαα ,--^THAI, ααα^anti,3.7, ααα^anti4.2, Qthailand, α2-α2α1 and α2：CD30 GAG〉CAG. The common α-thalassemia alleles accounted for 99.58% of total detectable amount. 14 common β-thalassemia alleles were detected, while 7 novel β-thalassemia alleles were detected. The detected novel β-thalassemia alleles include HPFH, Gγ＋ （Aγδβ） 0, -90M, 95M, Int （G〉A） M, 37M and-50M. The common β-thalassemia alleles accounted for 99.41% of total detectable amount. In the study, the study group classified the detected HbA2 and HbF values according to the thalassemia genotype. According to the result, the value of HbA2 is a good indicator to predict the β-thalassemia allele carders. The cut value of the HbA2 value is defined as 3.2. During the routine work, the value of HbF should be pay attention too, if the value of HbF is as high as 5, the individual could be a carrier of the β-thalassemia deletion. Conclusion： The thalassemia alleles have a high frequency in Guangxi Beibu Gulf district. In the routine work, the detection center should follow the process of the thalassemia genotyping, and the method of MLPA and sequencing should be built to reduce the risk of birth defects in the region.

关 键 词：广西北部湾地区 地中海贫血 钦州型α地中海贫血缺失型 α地贫 Β地贫 

分 类 号：R556[医药卫生—血液循环系统疾病] R440[医药卫生—内科学]