ArraY-CGH技术在不明原因畸形胎儿检测中的应用研究  

Study on the application of ArraY-CGH in the detection of unexplained malformation fetus

作　　者：侯建伟 董晓燕 许日华 

机构地区：[1]新疆维吾尔自治区克拉玛依中心医院妇产科,新疆克拉玛依834000

出　　处：《转化医学电子杂志》2016年第11期37-38,共2页E-Journal of Translational Medicine

摘　　要：目的:探讨ArraY-CGH技术(微阵列比较基因组杂交技术)在不明原因畸形胎儿检测中的应用.方法:选取2013-01/2015-10新疆维吾尔自治区克拉玛依中心医院收治的不明原因畸形胎儿102例作为研究对象,对所选胎儿采取CNVs(全基因组拷贝数变异)进行筛查,获取畸形胎儿不明原因中CNVs检出率,并分析CNVs与畸形胎儿的相关性,采用此方法来评估ArraY-CGH对不明原因畸形胎儿可能的遗传病因诊断作用.结果:25/102例患儿中发现33个CNVs(重复16个、缺失17个),总发生率为32.35%(33/102),CNVs平均长度1321 kb.对3/25例患者父母血样进行鉴定,判定CNVs是否是家族遗传,其中1例具有新生CNVs,余下2例为父亲遗传.携带MR/DD致病相关CNVs的患儿检出率为15.69%(16/102).结论:基因组CNVs相关的微缺失重复,是造成不明原因畸形胎儿的原因之一,高分辨ArraY-CGH技术可在不明原因畸形胎儿中发现更多的遗传病因,帮助和提高不明原因畸形胎儿的分子诊断水平.AIM： To investigate the application of ArraY-CGH（ microarray comparative genomic hybridization） in the detection of unexplained malformation fetus. METHODS： A total of 102 unexplained malformation fetus admitted into Central Hospital of Karamay from January 2013 to October 2015 were selected as the objects of research,and they were given CNVs（ genome-wide copy number variations） screening to acquire CNVs detection rate of unexplained malformation fetus and analyze the correlations between CNVs and malformation fetus,which could evaluate the diagnosis effect of possible genetic etiology of ArraY-CGH for unexplained malformation fetus. RESULTS： A total of 33 cases of CNVs was found from 25 / 102（ 16 repeat,17 missing）,and the total incidence rate was 32.35%（ 33 / 102）, and the average length of CNVs was 1321 kb. The blood sample of 3 / 25 patients＇ parents was identificated to determine whether CNVs is family hereditary,of which 1 case had neonatal CNVs,the remaining 2cases inherited from their father. The children carrying CNVs MR /DD associated with the disease in children with a detection rate of15.69%（ 16 / 102）. CONCLUSION： One reason for unexplained malformation fetus is that relevant duplication and microdeletions of genome CNVs. High resolution ArraY- CGH can find more genetic etiology unexplained malformation fetus and help to improve the molecular diagnosis level of of unexplained malformation fetus.

关 键 词：ArraY-CGH技术 畸形胎儿 应用研究 

分 类 号：R714.53[医药卫生—妇产科学]