应用单核苷酸多态性芯片产前诊断单亲二体型邓妮尹玉竹章钧田.DOCVIP

应用单核苷酸多态性芯片产前诊断单亲二体型 邓妮，尹玉竹，章钧，田琪，侯红瑛 (中山大学附属第三医院产科，广州510630) 基金项目1、广东省计划项目。课题编号：2009B060700107。母血中胎儿游离RNA用于产前无创性诊断唐氏综合症的研究。项目负责人：侯红瑛，广州市中山大学附属第三医院产科 2、广东省科学技术厅，承担政府特定任务项目。课题编号：2011B061200045。孕妇血浆中胎儿游离RNA表达水平及遗传多态性研究。项目负责人：章钧，广州市中山大学附属第三医院产科 [摘 要]：目的: 探讨人类全基因组单核苷酸多态性芯片(Single nucleotide polymorphisms array， SNP array)技术在单亲二体型产前诊断及遗传咨询中的应用价值。方法: 对妊娠20周前即存在不明原因胎儿生长受限征象且在羊水胎儿细胞G显带染色体核型分析中显示核型正常的34例孕妇，应用人类全基因组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分析发现两例部分型16单亲二体型，一例位点为16p12.2-p13.3和16q24.1-24.3，另一例位点为16q21-q24.3。对父母亲外周血细胞进行遗传学连锁分析发现两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成受限的基因，并具有协同作用。 SNP array技术可用于单亲二体型的产前诊断，并可探索其来源及发生机制，为产前遗传咨询提供帮助。 [关键词] 单核苷酸多态性芯片，SNP array；单亲二体型；产前诊断 Prenatal diagnosis of uniparental disomy 16 using single nucleotide polymorphism array DENG Ni，YIN Yu-zhu, ZHANG Jun, TIAN Qi, HOU Hong-ying (Department of Obstetrics, The Third Affiliated Hospital, SUN yat-sen University, Guangzhou 510630, China [Abstract] AIM: To assess the value of the Genome-wide human single nucleotide polymorphism array for the prenatal diagnosis and the genetic counseling of uniparental disomy. METHODS: Genetic analysis with the Genome-wide human SNP array was carried out on the fetal cells of amniotic fluid and the peripheral blood cells of parents of 34 pregnant women with normal karyotype in amniotic cells by G banding chromosome karyotype analysis, whose signs of idiopathic fetal growth retardation were found before the 20th week of pregnancy. Results: Two cases of segmental uniparental disomy 16 were found from the SNP array analysis of the fetal cells of amniotic fluid. The regions of isodisomy of one case located on 16p12.2-p13.3 and 16q24.1-24.3 ,and the region of the other located on 16q21-q24.3.Both two cases of uniparental disomy are maternal from the genetics linkage analysis of the peripheral blood cells of parents. Conclusion: The genes that can induce the fetal growth retardation are probably located in the ends of long