HBB基因上下游1Mb内15个STR位点在β-地中海贫血胚胎植入前遗传学检测的应用评价  

Evaluation of 15 STR loci in 1Mb upstream and downstream of HBB gene in preimplantation genetic detection of beta-thalassemia embryos

作　　者：李伍高 李哲涛 谭建强 潘莉珍 罗世强 畅荣妮 蔡稔 严提珍 LI Wu-gao;LI Zhe-tao;TAN Jian-qiang;PAN Li-zhen;LUO Shi-qiang;CHANG Rong-ni;CAI Ren;YAN Ti-zhen(Reproductive Centre of Liuzhou Municipal and Child Healthcare hospital,Guangxi,Liuzhou,545001;Department of Medical Genetics,Liuzhou Municipal and Child Healthcare hospital,Liuzhou Key Laboratory of Birth Defect Prevention and Control,Guangxi,Liuzhou,545001)

机构地区：[1]柳州市妇幼保健院生殖健康助孕中心,广西柳州545001 [2]柳州市妇幼保健院医学遗传科,柳州市出生缺陷预防与控制重点实验室,广西柳州545001

出　　处：《中国优生与遗传杂志》2020年第2期138-140,156,共4页Chinese Journal of Birth Health & Heredity

基　　金：广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z20170527);柳州市科学研究与技术开发计划课题(2014G020404、2017BH20312和2018AF10501)。

摘　　要：目的分析广西人群β-珠蛋白基因上下游1Mb内的15个短串联重复序列的杂合度,构建家系单体型,分析其在β-地中海贫血胚胎植入前遗传学检测中的应用价值。方法采用多重荧光PCR结合毛细管电泳技术,随机抽取无血缘关系的319例样本分析各个STR位点的遗传多态性,随后取部分家系样本进行单体型构建。结果在广西人群中发现HBB4506、D11S988、HBB4677、D11S2362、HBB5089、D11S1243、HBB5138、HBB5178、HBB5205、D11S1760、HBB5576、HBB5655、HBB5820、HBB5859和D11S1338实际杂合度分别为0.82、0.83、0.9、0.8、0.81、0.86、0.73、0.66、0.81、0.91、0.86、0.79、0.79、0.71和0.69。合计进行72个家系单体型构建,其中有19个家系因家系不全单体型构建失败,其他53个家系单体型均构建成功。结论选择的HBB珠蛋白基因上下游1Mb内的15个STR位点具有较高的杂合度和多态信息量,比较适合作为广西人群HBB基因的遗传标记从而进行β-地中海贫血胚胎植入前遗传学检测。Objective:To analyze the heterozygosity of 15 short tandem repeats(STRs)in the upstream and downstream 1Mb of beta-globin gene in Guangxi population,construct a family haplotype and analyze its application value in genetic implantation detection of beta-thalassemia embryos.Methods:A total of 319 unrelated samples were randomly selected to analyze the genetic polymorphisms of STR loci by multiplex fluorescent PCR combined with capillary electrophoresis,and then some family samples were selected for haplotype construction.Results:The actual heterozygosity of HBB4506,D11S988,D11S988,HBB4677,HB11S2362,HBB5089,D11S1243,HBB5138,HBB5178,HBB5205,D11S1760,HBB5576,HBB5855,HBB5820,HBB5859 and D11S15338 was 0.82,0.83,0.9,0.8,0.81,0.86,0.66,0.91,0.79,079,0.71,0.69,respectively.A total of 72 haplotypes were constructed.Among them,19 families failed to construct haplotypes due to incomplete haplotypes,while the other 53 families were successfully constructed.Conclusion:The 15 STR loci in 1Mb upstream and downstream of HBB globin gene have high heterozygosity and polymorphism information.They are suitable for genetic marker of HBB gene in Guangxi population for pre-implantation genetic detection of beta-thalassemia embryos.

关 键 词：短串联重复序列 HBB基因 遗传多态性 杂合度 

分 类 号：R556.71[医药卫生—血液循环系统疾病]