5个家系δβ地中海贫血的家系分析及产前诊断  

Analysis and prenatal diagnosis of 5 families with δβ-thalassemia

作　　者：杜丽[1] 秦丹卿[1] 王继成[1] 郭浩[1] 袁腾龙 王奕霞[1] 张艳霞[1] 梁驹卿[1] 骆明勇[1] 吴菁[1] 

机构地区：[1]广东省妇幼保健院医学遗传中心,广东省妇幼代谢与遗传病重点实验室,广东广州510010

出　　处：《分子诊断与治疗杂志》2015年第1期27-32,共6页Journal of Molecular Diagnostics and Therapy

基　　金：广东省科技计划(2013B022000019);广东省医学科学技术研究基金(A2014094)

摘　　要：目的对5个δβ地中海贫血家系进行分析及产前诊断。方法采集家系成员外周血进行血细胞分析,应用毛细管电泳技术对血红蛋白进行分析,采用裂隙聚合酶链反应(Gap-PCR)以及PCR结合反向点杂交(PCR-RDB)方法对来自外周血及羊水、绒毛的αβ珠蛋白进行基因突变鉴定。结果检测到中国型~Gγ^+(~Aγδβ)~0地中海贫血携带者5例,中国型~Gγ^+(~Aγδβ)~0地贫复合β地贫导致的重型地中海贫血1例,3个胎儿为中国型~Gγ^+(~Aγδβ)~0地贫复合β地贫。结论对高风险家庭进行产前诊断避免重型地贫患儿的出生,对于优生优育具有重要意义。Objective To analysis 5 families with δβ-thalassemia and carry out the prenatal diagnosis. Methods Peripheral blood of the family members was collected. The whole blood cell analysis, capillary zone electrophoresis （CZE） were performed, αβ globin gene mutations were identified from peripheral blood, amniotic fluid and chorionic villus samples by Gap-PCR and polymerase chain reaction- reverse dot blot （PCR-RDB） assay. Results 5 carders of Chinese G^γ^＋（A^γδβ）^0 thalassemia and 1 case of severe anemia were detected. There were 3 cases of compound heterozygotes of Chinese G^γ^＋（A^γδβ）^0 thalassemia with β-thalassemia from 5 fetuses. Conclusions Clinicians should pay close attention to those who with reduced MCV and obvious increased Hb F. Compound heterozygote of δβ-thalassemia with β-thalassemia may lead to severe anemia. Prenatal diagnosis is very important for high-risk families.

关 键 词：δβ地中海贫血 基因诊断 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]