广西百色市胎儿羊水地中海贫血基因检测分析

发布时间：2018-04-16 13:30

本文选题：地中海贫血 + 羊水　；参考：《暨南大学学报(自然科学与医学版)》2015年06期

【摘要】：目的:运用分子杂交和基因芯片技术对百色市地中海贫血(简称"地贫")孕妇进行羊水地贫基因检测,了解地贫胎儿的发病率及基因突变类型.方法:采用跨跃断裂点聚合酶链反应(gap-PCR)及膜-反向点杂交技术检测中国人常见的缺失型α-地中海贫血、突变型α-地中海贫血及β-地中海贫血.结果:检出单纯性α-地中海贫血145例(47.3%),中、重型α-地中海贫血52(36.2%),重型Bart's水肿胎儿16例(11.3%),中型血红蛋白H病(Hb H)病36例(24.8%);单纯性β-地中海贫血103例(33.6%),β-地中海贫血中重型28例(27.2%);复合型αβ地中海贫血21例(6.8%);壮族人群α-地中海贫血发生率为56.6%,瑶族人群α-地中海贫血发生率为27.6%,汉族人群检出α-地中海贫血发生率为15.8%;壮族人群β-地中海贫血发生率为66.0%,瑶族人群β-地中海贫血发生率为21.4%,汉族人群β-地中海贫血发生率为12.6%.结论:百色地区胎儿羊水地贫基因检测阳性率较高,特别是中重型地中海贫血类型胎儿阳性率也很高;壮、瑶、汉各民族α-地中海贫血的发病率具有显著性差异(P0.05),壮、瑶、汉各民族β-地中海贫血的发病率无统计学差异(P0.05).对该地区孕育胎儿的夫妇应该进行产前地中海贫血基因筛查及孕育知识的长期指导.
[Abstract]:Objective: To study the molecular hybridization and gene chip technology in Baise (hereinafter referred to as "Mediterranean anemia in pregnant women with thalassemia) were detected in amniotic fluid thalassemia gene, understand the incidence of thalassemia gene mutations and fetus. Methods: the rapid breaking point of polymerase chain reaction (gap-PCR) detection and membrane reverse dot blot deletional alpha Chinese common Mediterranean anemia, mutant alpha thalassemia and beta thalassemia. Results: the detection of pure alpha thalassemia, 145 cases (47.3%), alpha thalassemia 52 (36.2%), 16 cases of severe Bart's fetal edema (11.3%), and hemoglobin H disease (Hb H) disease in 36 cases (24.8%); pure beta thalassemia in 103 cases (33.6%), beta thalassemia in 28 severe cases (27.2%); compound alpha thalassemia in 21 cases (6.8%); Zhuang population of alpha thalassemia incidence was 56.6%, Yao population of alpha thalassemia incidence was 27. 6%, Han population positive for alpha thalassemia incidence was 15.8% in Zhuang population; beta thalassemia incidence was 66%, Yao population of beta thalassemia incidence was 21.4%, Han population beta thalassemia incidence rate was 12.6%. conclusion: a higher positive rate of fetal amniotic fluid thalassemia gene detection in Baise area, especially in the Mediterranean fetal anemia type positive rate is also very high; Zhuang, Yao and Han ethnic groups the incidence of alpha thalassemia rate has significant difference (P0.05), Zhuang, Yao and Han ethnic groups the incidence of beta thalassemia was no significant difference (P0.05). The couple conceivedfetal in this area should be long-term prenatal guidance thalassemia gene screening and breeding of knowledge.

【作者单位】：暨南大学附属第一医院临床检验中心;右江民族医学院附属医院检验科;
【基金】：广西百色市科学研究与技术开发计划项目[百科计字(201204)1号]
【分类号】：R714.5

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