应用单核苷酸多态性芯片研究单亲二体型来源及致病机制  

Value of single nucleotide polymorphism array in investigating origin and pathogenic mechanisms of uniparental disomy

作　　者：邓妮[1] 郭佩玲[1] 尹玉竹[1] 章钧[1] 田琪[1] 侯红瑛[1] 

机构地区：[1]中山大学附属第三医院产科,广东广州510630

出　　处：《中国病理生理杂志》2013年第10期1839-1844,共6页Chinese Journal of Pathophysiology

基　　金：广东省科技计划(No.2009B060700107);广东省科学技术厅政府特定任务项目(No.2011B061200045)

摘　　要：目的:探讨人类全基因组单核苷酸多态性芯片(single nucleotide polymorphism array,SNP array)在单亲二体型来源及致病机制研究和遗传咨询中的应用价值。方法:对具有唐氏综合征高风险、需行羊水胎儿细胞G显带染色体核型分析的124例孕妇,应用SNP array对羊水中的胎儿细胞及父母双方的外周血细胞进行遗传学分析。结果:对羊水胎儿细胞进行SNP array分析发现,2例部分型16单亲二体型,1例位点为16p12.2～13.3和16q24.1～24.3,另1例位点为16q21～24.3。对胎儿双亲外周血细胞进行遗传学连锁分析发现,2例单亲二体型均为母源性。结论:16号染色体长、短臂末端可能分别存在导致胎儿生长受限的基因。SNP array可探索单亲二体型的来源及致病机制,为产前遗传咨询提供帮助。AIM：To assess the value of the genome-wide human single nucleotide polymorphism （SNP） array for the investigation of the origin and pathogenic mechanisms and the genetic counseling of uniparental disomy （UPD）. METHODS：Genetic analysis with the genome-wide human SNP array was carried out on the fetal cells in amniotic fluid and the peripheral blood cells from 124 pregnant women with high risk of Down’s syndrome, whose G-banded chromosome karyotype analysis was done using the fetal cells in amniotic fluid. The peripheral blood cells from the fetuses fathers were also taken for SNP array analysis. RESULTS：Two cases of segmental UPD 16 were found from the SNP array analysis of the fetal cells in amniotic fluid. The regions of isodisomy in one case were located in 16p12.2~13.3 and 16q24.1~24.3, and the region of the other was located in 16q21~24.3. Both cases of UPD were maternal upon the genetic linkage analysis of the peripheral blood cells of the parents. CONCLUSION：The genes that induce the fetal growth restriction are probably located at the ends of long arm and short arm of chromosome 16. SNP array can identify the parental origins and the pathogenic mechanisms of UPD, which provides the assistance for genetic counseling.

关 键 词：单核苷酸多态性 单亲二体型 致病机制 遗传咨询 

分 类 号：R363[医药卫生—病理学]