广州市非缺失型α-地贫基因诊断和产前诊断结果分析  

Analysis on screening and prenatal diagnosis of non-deletion a-thalassemia in Guangzhou

作　　者：屈艳霞 陈桂兰 唐盈 江帆 左连东 辜俊梅 李志华[3] 

机构地区：[1]广州市妇女儿童医疗中心,广东广州510623 [2]番禺区人口和计划生育技术服务站,广东广州518000 [3]广州医科大学附属第三医院,广东广州510150

出　　处：《癌变．畸变．突变》2016年第2期145-148,共4页Carcinogenesis,Teratogenesis & Mutagenesis

基　　金：国家科技支撑计划项目(2006BAI05A02;2012BAI09B01);广东省计划生育委员会基金项目(2010208;20132031);广东省科技厅科技基础条件建设项目(2010B060100014)

摘　　要：目的:分析广州市非缺失型α-地中海贫血(α-地贫)的临床特征、基因突变类型及构成比,为临床遗传咨询提供依据。方法:259例受检者均进行血液常规和高效液相色谱分析(HPLC),筛查阳性者采用跨越断裂点PCR(Gap-PCR)和PCR结合反向杂交(PCR-RDB)技术进行α-地贫基因分析。夫妇为同型α-地贫携带者进一步行胎儿α-地贫基因诊断,产后随防。结果:259例受检者中,αα^(QS)/αα170例、αα^(WS)/αα43例、αα^(CS)/αα34例、--^(SEA)/αα^(QS)6例、--^(SEA)/αα^(CS) 4例、-α^(3.7)/αα^(QS)1例、-α^(4.2)/αα^(QS)1例。同性别的患者3种非缺失型α-地贫红细胞平均体积(MCV)、红细胞平均血红蛋白量(MCH)比较差异有统计学意义(P<0.05),而血红蛋白(HGB)比较差异无统计学意义(P>0.05)。经产前基因诊断检出非缺失型Hb H(--^(SEA)/αα~T)病胎儿5例,胎儿引产后留脐血进行复核,均与产前基因诊断结果一致。结论:广州市非缺失型α-地贫发生率高,以αα^(QS)/αα最常见,对疑似非缺失型α-地贫携带者进行基因检测,可显著降低非缺失型Hb H病患儿的发生率。OBJECTIVE： To explore the gene mutation types and proportions of non-deletion α-thalassemia,and to provide clinical basis for genetic counselling. METHODS：The gene mutation types and frequencies of 259 suspected non-deletion α-thalassemia patients were analyzed by Gap-PCR and PCR-RDB. 30 pregnant women whose husband had the same type of thalassemia received thalassemia prenatal diagnosis. We completed follow-up works.RESULTS：Among the 259 cases,170 cases of αα^QS/αα,43 cases of αα^WS /αα,34 cases of αα^CS /αα,6 cases of--^SEA /αα^QS,4 cases of--^SEA/αα^CS,one case of-α^3.7/αα^QS,and one case of-α^4.2 /αα^QS were found. Compared with normal control group,there were statistical significances in MCV,MCH in different types of non-deletion α-thalassemia（P〈0.05）. 5 fetuses with non-deletion Hb H disease were confirmed by prenatal diagnosis. The results of postpartum follow-up were consistent with prenatal diagnoses. CONCLUSION：Guangzhou is a high incidence area of non-deletion α-thalassemia. The most common genotype is αα^QS /αα. To reduce the birth of children with non-deletion HbH disease,non-deletion thalassemia genotype carriers should be tested.

关 键 词：非缺失型α-地贫 突变 基因诊断 产前诊断 

分 类 号：R715.5[医药卫生—妇产科学]