作　　者： (）;

机构地区： 佛山市南海区妇幼保健院

出　　处： 《内蒙古医学杂志》 2019年第4期391-393,共3页

摘　　要： 目的分析佛山市南海区孕前优生健康检查中地中海贫血(地贫)基因检测情况。方法选取2016年1月至2018年6月佛山市南海区参加孕前优生健康检查的新婚夫妇25 800对,均予以地贫基因筛查,分析本地区的地贫基因检测结果。结果 25 800对新婚夫妇(51 600人)的地贫基因携带率为14.54%(7 505例),其中α-地贫基因携带率为9.79%(5 050例),β-地贫基因携带率为4.76%(2 455例)。α-地贫基因携带者共检出7种基因型,3种缺失型α-地贫基因-SEA、-α3.7、-α4.2的等位基因构成比分别为74.49%、18.95%、6.57%。β-地贫基因携带者共检出9种基因型,其等位基因排名前5位的依次为CD-42(44.89%)、IVS-II-654(22.89%)、-28(12.26%)、CD17(8.15%)、CD43(4.28%)。结论佛山市南海区新婚夫妇的地贫基因携带率较高,对于本地区携带地贫基因的新婚夫妇可进行遗传咨询,并在产前诊断,降低本地区地贫儿的出生率。 Objective To analyze the detection of thalassemia(thalassemia)gene in prenatal eugenic health examination in Nanhai District of Foshan City.Methods 25800 newly married couples who participated in pre-pregnancy eugenic health examination in Nanhai District of Foshan City from January 2016 to June 2018 were selected,and all of them were screened for thalassemia gene.Analyze the results of genetic testing for thalassaemia in the region.Results The carrying rate of poverty genes in 25 800 newly married couples(51 600 persons)was 14.54%(7 505 cases),of which 9.79%(5 050 cases)were alpha-thalassemia genes and 4.76%(2 455 cases)were beta-thalassemia genes.A total of 7 genotypes were detected in the carriers ofα-thalassemia gene carriers,and the allele composition ratios of of the three deletedα-thalassemia genes-SEA,-α3.7,and-α4.2 were 74.49%,18.95%and 6.57%,respectively.A total of 9 genotypes were detected in theβ-thalassemia gene carriers,while the top five alleles were CD-42(44.89%),IVS-II654(22.89%),-28(12.26%),CD17(8.15%)and CD43(4.28%).Conclusion The newly-married couples in Nanhai District of Foshan City have a high rate of carrying gene poverty,and they can conduct genetic counseling for newly-married couples carrying thalassaemia genes in the region,and prenatal diagnosis to reduce the birth rate of thalassemia children in the region.

关 键 词： 优生健康检查 地中海贫血

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