摘要
目的回顾分析优生门诊患者β-地中海贫血基因诊断结果,了解不孕不育、有不良孕育史人群β-地中海贫血基因携带情况。方法血液学筛查β-地贫阳性指征者,应用PCR结合反向斑点杂交法(RDB)进行β-地贫基因分析。结果 457例患者进行β-地贫基因检测,115例患者被检出β-地贫,共检出9种β-地贫基因突变类型,均为杂合子。发生频率最高的五种突变类型,按其发生频率从高到低依次为:CD41-42占32.17%。IVS-Ⅱ-654占22.61%;-28占20.87%;CD17占13.04%;CD71-72占4.35%。结论不孕不育、有不良孕育史人群主要的β-地贫基因突变类型与其他人群无差异,做好孕前检查和必要的产前诊断对不孕不育、有不良孕育史的夫妇尤为重要。
Objective To understand infertility patients and abnormal pregnancy crowd β-thalassemia （β-thal） gene carrying case through retrospective analysis in eugenics outpatients β-thalassemia gene diagnostic results. Methods β-thalassemia genes in β-thalassemia positives were determined with PCR and reverse dot-Not hybridization method （PCR-RDB）. Results In 457 examples, 115 were confirmed to be β-thalassemia gene carriers by genetic analysis, and 9 gene mutation types were detected and were heterozygous. Five types of gene mutations had highest frequency of occurrence, followed by CD41-42 32.17%, IVS- II -654 22.61%, -28 20.87%, CD17 13.04% and CD71-72 4.35%. Conclusions β-thalassemia gene mutation type has no difference with infertility, abnormal pregnancy crowd and other populations, β-thalassemia gene-carrying type has nothing to do with infertility, adverse reproductive history. The pre-pregnancy examination and necessary prenatal diagnosis is particularly important for couples with infertility and abnormal pregnancy.
出处
《临床医学工程》
2013年第6期669-670,共2页
Clinical Medicine & Engineering
基金
广东省人口和计划生育委员会重点项目(2007002)
