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作 者:荣卡彬[1] 张绪超[1] 陈志红[1] 黄革[1] 李运雄[1] 李广华[1] 罗宪玲[1] 蒋文玲[1]
机构地区:[1]广东省人民医院广东省医学科学院医学研究中心广东省老年医学研究所,广州510080
出 处:《中华检验医学杂志》2009年第11期1266-1269,共4页Chinese Journal of Laboratory Medicine
摘 要:目的对1例胎儿脐血DNA用跨越断裂点PCR技术(gap—PCR)检测DNA时罕见同时出现α2、右缺失(-α3.7)和东南亚缺失(southeast asian deletion,--SEA)的胎儿及其家系进行分析,探讨其基因变异的来源。方法1例24周龄的胎儿脐血DNA采用gap—PCR检测,采用巢式及单重PCR对胎儿及其父母、祖父母、外祖父母进行仅地中海贫血基因型分析,并进行红细胞参数分析、血红蛋白检测,反向斑点杂交技术诊断α地中海贫血点突变及β地中海贫血点突变,同时比较分析胎儿基因变异与家系关系。结果血液学表型分析显示,胎儿血红蛋白1链的四聚体(Hb Bart’s)含量为7.6%、母亲、外祖父均为典型的α地中海贫血。胎儿的父亲、祖父母、外祖母4人红细胞指数和血红蛋白无异常改变。胎儿为HKαα和东南亚缺失型杂合子,其父亲、祖父均为HKαα;其母亲、外祖父为东南亚杂合子;祖母、外祖母均未发现仪地中海贫血基因缺失。通过遗传咨询孕妇选择了保留胎儿。结论发现1例罕见的HKαα和--SEA的混合杂合子(HKaa/--SEA),成功保住胎儿。Objective To identify one umbilical blood sample with abnormal gap-PCR products of three bands of α2, -α3.7 and --SEA, farther family pedigree were analyzed for the source of genetic variations. Methods One fetal umbilical blood sample was drawn from a woman of 24-weeks pregnancy. Gap-PCR for α-tbalassemia was routinely conducted and abnormal three bands of α52, -α3.7 and --SEA were observed, which could not be interpreted according to the kit manual and suspected as rare variation. With informed consent, DNA samples from the parents and grandparents were obtained for further study. Singleplex andnested PCR techniques were utilized to analyze the molecular characteristics of DNA samples from this fetus and its parents and grand-parents. Results Hematological phenotype study showed that fetal Hb Ban's was 7.6%, and its mother and maternal grandfather were both with typical α-thalassemia, while its father, grandfather and grandmother and maternal grandmother are without abnormal hematological change. Molecular study showed that fetal blood DNA was a heterozygosity for HKαα and --SEA, its father and grandfather are both HKαα/αα, its mother and maternal grandfather are both --SEA/act, its grandmother and maternal grandmother are with both normal alleles of αα/αα. Then after genetic counseling the fetus was saved and is a she baby now. Conclusion Through careful molecular tests one case of prenatal heterozygosity of HKαα/--SEA was identified, and the fetus is kept successfully through careful clinical counseling.
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