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22q 11.2微重复伴先天性心脏缺损的产前分子遗传学诊断 被引量：1

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摘要 目的对产前超声检查中发现的1例先天性心脏缺损(congenital heart defects,CHD)胎儿进行分子细胞遗传学分析,寻找其致病原因。方法对胎儿脐带血及父母双亲外周血行G显带常规染色体分析,用微阵列比较基因组杂交(array-based comparative genomic hybridization,array-CGH)技术对胎儿进行全基因组扫描分析,并用短串联重复多态性(short tandem repeat polymorphism,STRP)分析技术对新发现的基因拷贝数变异(copynumber variations,CNVs)进行验证及来源分析。结果 array-CGH显示胎儿基因组中存在一个22q11.2微重复,大小约为1.5Mb;STRP分析证实了22q11.2微重复的存在,同时也发现无任何异常症状的胎儿母亲基因组中也存在一致的22q11.2微重复,提示胎儿22q11.2微重复遗传于其母亲。结论 22q11.2微重复可能是胎儿CHD的病因;22q11.2微重复携带者可以无任何异常症状,其遗传学机制尚待研究。
作者 林颖 胡平 季修庆 孙瑞红 周小燕 孟露露 王艳 罗春玉 蒋涛 许争峰
机构地区 南京医科大学附属南京市妇幼保健院 南京医科大学医学检验系
出处 《临床检验杂志》 CAS CSCD 北大核心 2011年第2期103-105,共3页 Chinese Journal of Clinical Laboratory Science
基金 国家自然科学基金(30872782) 江苏省自然科学基金(BK2008077) 南京市科技局基金(200801094) 南京市医学科技发展项目(ZKX08001)
关键词 22q 11.2微重复 先天性心脏缺损 产前诊断 微阵列比较基因组杂交
分类号 R541.1 [医药卫生—心血管疾病] R714.55 [医药卫生—妇产科学]
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参考文献11

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二级参考文献22

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临床检验杂志
2011年 第2期

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