桂林地区产前地中海贫血基因诊断175例分析  

Prenatal diagnosis of thalassemia gene in 175 pregnant women

作　　者：王光丽 郑海清[1] 曾丹 苏莉[1] 赵芹[1] 冯乔[1] 朱春江[1] WANG Guang-li;ZHENG Hai-qing;ZENG Dan;SU Li;ZHAO Qin;FENG Qiao;ZHU Chun-jiang.(Department of Prepotency and Genetics, Affiliated Hospital of Guilin Medical University, Guilin, 541001, China)

机构地区：[1]桂林医学院附属医院优生遗传科,广西桂林541001

出　　处：《中国优生与遗传杂志》2018年第6期28-30,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨分子诊断技术在产前地中海贫血基因诊断中的应用,以此降低出生缺陷。方法 2016年1月至2016年12月在本院确诊为同型地贫携带者夫妇共175对(其中3例为双胎妊娠),通过羊膜腔穿刺术获取胎儿标本提取DNA,应用跨跃断裂点PCR和PCR结合反向斑点杂交技术进行α,β地贫基因诊断。结果检测出正常胎儿30例,异常胎儿148例,中重型胎儿38例(21.35%)。夫妇为同型α地贫共122对,产前诊断检出正常胎儿22例(18.03%),轻型α地贫73例(59.84%),中间型α地贫17例(13.93%)及Bart′s水肿胎10例(8.20%);夫妇为同型β地贫共30对,产前诊断检出正常胎儿5例(16.67%),杂合子20例(66.67%),纯合子3例(10.00%)及双重杂合子2例(6.67%);夫妇同型地贫且一方为α复合β地贫共20对,产前诊断检出正常胎儿3例,轻型α地贫3例,中间型α地贫1例,β地贫杂合子6例,β地贫纯合子1例,α复合β地贫6例;双胎妊娠孕妇3例,检出轻型α地贫2例,Bart′s水肿胎2例,β地贫杂合子2例。结论应用分子诊断技术,对高危人群在孕中期行羊水地贫基因检测,可以尽早发现中、重型地贫胎儿,从而有效地降低出生缺陷。Objective：To explore the application of molecular diagnostic techniques in the prenatal diagnosis of thalassemia,in order to reduce birth defects. Methods：From January 2016 to December 2016,175 couples with the same thalassemia type from Affiliated Hospital of Gui Lin Medical University were recruited,which included 3 cases of twin pregnancy. Genomic DNA was extracted from amniotic fluid.Gap polymerase chain reaction（gap PCR）and reverse dot blot（RDB）technology were used to detect the common α and β thalassemia mutations. Results：30 cases of normal fetus and 148 cases of abnormal fetus were detected. And 38 cases of the thalassemia major（21.35%）were found among them. In 122 couples with α thalassemia after prenatal diagnosis,22 cases were normal（18.03%）,73 cases were thalassemia minor（59.84%）,and 27 cases were thalassemia major,which included 17 cases of α thalassemia intermedia（13.93%）and 10 cases of Bart′s hydrops syndrome（8.20%）.In 30 couples with β thalassemia after prenatal diagnosis,5 cases were normal（16.67%）,20 cases were heterozygous（66.67%）,and 5 cases（16.67%）were thalassemia major,which included 3 cases of homozygous and 2 cases of compound heterozygous. 20 families with αandβthalassemia were found that babies with 3 normal,3 cases of αthalassemia minor,1 case of αthalassemia intermedia,6 cases of heterozygote,1 case of homozygote,6 cases of αand βthalassemia. Among the 3 cases of twin pregnancy,2 cases of αthalassemia minor,2 cases of Bart′ s hydrops syndrome,and 2 cases of β thalassemia heterozygote were detected. Conclusion：Molecular diagnostic techniques is highly effective in detecting the thalassemia major in couples at risk,so as to reduce birth defects.

关 键 词：地中海贫血 基因型 产前诊断 

分 类 号：R556.71[医药卫生—血液循环系统疾病]