【摘要】 目的回顾分析91例同型地中海贫血(简称地贫)基因携带者的产前基因检测结果,以提供有效的遗传咨询。方法选取2016年1月—2017年12月在南宁市第二人民医院进行常规产前检查或优生遗传咨询的孕妇及其配偶,确诊受检夫妻双方均为α-地贫基因携带者74对,均为β-地贫基因携带者13对,一方为复合α-、β-地贫基因携带者4对。抽取羊水样本,并提取基因组DNA。采用跨越断裂位点聚合酶链反应(Gap-PCR)和聚合酶链反应反向斑点杂交(PCR-RDB)对羊水样本进行缺失型和突变型检测,并同时进行染色体核型分析。结果在74对α-地贫基因携带者夫妻中--SEA/αα的比例最高(36.5%),其次为--SEA/--SEA(14.9%)、-α3.7/αα(9.5%)、αWSα/αα(6.8%)。13对β-地贫基因携带者夫妻中杂合子突变占61.5%,双重杂合子突变占23.1%,纯合子突变占7.7%。4对复合α-、β-地贫基因携带者夫妻中均检出复合α-、β-地贫基因型胎儿。15例重型地贫胎儿均进行了引产。结论对地贫高发地区育龄夫妻进行孕前地贫筛查和产前地贫基因检测是防止重症地贫患儿出生的关键。更多还原

【Abstract】 Objective To analyze the results of prenatal gene determination retrospectively in 91 couples with same type thalassemia,and to provide effective genetic counseling. Methods From January 2016 to December2017,pregnant women and their husbands receiving routine prenatal examination or genetic counseling for eugenics in Nanning Second People’s Hospital were enrolled. Totally,74 couples with α-thalassemia,13 couples withβ-thalassemia and 4 couples with α-and β-double thalassemia were con?rmed. Genomic DNA was extracted from amniotic ?uid. Gap polymerase chain reaction(Gap-PCR) and polymerase chain reaction-reverse blot hybridization assay(PCR-RDB) were used to determine the missing and mutation of thalassemia,meanwhile the karyotype was analyzed. Results In 74 couples of α-thalassemia,the main gene types were--SEA/αα(36.5%),--SEA/--SEA(14.9%),-α3.7/αα(9.5%) and αWS α/αα(6.8%). In 13 couples of β-thalassemia,heterozygous mutation accounted for 61.5%,double heterozygous mutation accounted for 23.1%,and homozygous mutation accounted for7.7%.There were 4 couples of α-and β-double thalassemia,and α-and β-double thalassemia was also found in their fetuses. There were 15 fetuses of severe thalassemia,and they were all aborted. Conclusions Thalassemia screening before pregnancy and prenatal thalassemia gene determination are effective means on reducing the birth of severe thalassemia in high-risk thalassemia region.更多还原