中国四川地区汉族及藏族人群地中海贫血基因分型调查  

Genotype of Thalassemia in Han Chinese and Tibetans in Sichuan Province,China

作　　者：牛倩[1] 黄珣钡[1] 安云飞[1] 王军[1] 江虹[1] 

机构地区：[1]四川大学华西医院实验医学科,成都610041

出　　处：《四川大学学报（医学版）》2016年第6期941-944,共4页Journal of Sichuan University(Medical Sciences)

基　　金：国家自然科学基金青年基金(No.81501816)资助

摘　　要：目的调查四川地区汉族和藏族人群地中海贫血(地贫)基因的携带率及基因分型,分析地贫患者地贫基因分型的分子流行病学特点。方法采用SYSMEX XE-2100全自动血细胞分析仪检测1 147例汉族成人和613例藏族成人的红细胞参数,对平均红细胞体积(mean corpuscular volume,MCV)<85fL和平均红细胞血红蛋白量(mean corpuscular hemoglobin,MCH)<27pg的标本进行α-地贫和β-地贫基因分析。分别采用多重连接依赖式探针扩增(multiplex ligation-dependent probe amplification,MLPA)和反向斑点杂交技术(reverse dot blot assays)检测α珠蛋白的缺失型突变和α珠蛋、β珠蛋白的非缺失型基因突变。结果汉族人群中,α-地贫基因携带率为1.48%(17/1 147),基因型以--SEA/αα为主;β-地贫基因携带率为1.39%(16/1 147),基因型以CD17和IVS-Ⅱ-654为主;αβ复合型地贫检出2例。33例地贫基因阳性标本的MCH均<27pg,有5例样本的MCV>80fL,最大为83.7fL。613例藏族中仅有1例为地贫基因携带者。结论四川地区汉族人群地贫基因携带率较高,存在有多种致病基因突变类型和基因型,应进一步加强地贫基因的筛查力度,尤其需要特别重视MCV<84fL、MCH<27pg人群的地贫筛查,而四川藏族人群不推荐常规进行地贫筛查。基因检测技术在指导遗传咨询工作中具有不可或缺的地位。Objective To investigate the carrying rates and genotype distribution of thalassemia gene in Han people and Tibetans in Sichuan district. Methods A total of 1 147 Han adults and 613 adult Tibetans were included in this study. Hematological parameters were measured with Sysmex XE-2100 automatic blood cell analyzer. Alpha thalassemia and beta thalassemia gene analyses were further performed on samples with a mean corpuscular volume （MCV） 〈85 fL and a mean corpuscular hemoglobin （MCH） 〈27 pg. Multiplex ligation-dependent probe amplification （MLPA） and reverse dot blot assays were used for detecting deletional mutations of a globin gene and non-deletional mutations of a globin and β globin genes, respectively. Results About 1. 48% （17/1 147） Han people carried alpha thalassemia gene, with --SEA/αα as the most common genotype; 1.39% （16/1 147） carried beta thalassemia gene, with CD17 and IVS-11-654 as the most common genotype. There were 2 cases with both alpha and beta thalassemia. Low MCH （〈27 pg） was found in all 33 cases with positive thalassemia genes. However, 5 people with positive thalassemia genes had higher than 80 fL MCV, with the highest reaching 83.7 fL. Out of 613 Tibetans, only one was found to have positive thalassemia genes. Conclusion Sichuan Han population carry a high level of thalassemia genes, with various genotypes and pathogenic gene mutation types. Han people with 〈 84 fL MCV and 〈27 pg MCH were recommended for thalassemia gene screening. Tibetans were not recommended for routine screening of thalassemia.

关 键 词：地中海贫血 基因型 平均红细胞体积 平均红细胞血红蛋白量 

分 类 号：R556.61[医药卫生—血液循环系统疾病]