颅面畸形家系的胎儿产前诊断与分析  

Prenatal diagnosis of a fetus in a family with mandibulofacial dysostosis

作　　者：刘彦慧[1] 石少权[2] 张艳亮[3] 戴勇[4] 商璇[5] 吴亚敏[1] 李超强[1] 黎丽芬[1] 

机构地区：[1]中山大学附属东莞东华医院中心实验室,广东东莞523110 [2]中山大学第五附属医院妇产科,广东东莞523110 [3]重庆医科大学医学检验系 [4]深圳市第一人民医院临床医学研究中心 [5]南方医科大学基础医学院医学遗传学教研室

出　　处：《中华医学遗传学杂志》2010年第4期437-440,共4页Chinese Journal of Medical Genetics

摘　　要：目的 探讨先天性颅面畸形胎儿的产前诊断技术.方法 选择产前检查B超显示胎儿具有颅面畸形的孕妇1例,采集孕妇羊水、外周血和其丈夫外周血样本,进行常规G显带核型分析.再采用比较基因组杂交技术（aaray comparative genomic hybridization,array-CGH）进行全基因组高分辨扫描和分析,逆转录荧光定量PCR方法对array-CGH结果进行验证.并在患儿出生后再进行重复检测确认.结果 G显带核型分析未见异常,array-CGH显示胎儿1p36.33区域有重复,长度约为722 kb,该片段中VWA1和PYGO2基因与软骨发育有关,定量PCR实验证实了比较基因组杂交的结果,拟诊为颅面畸形,胎儿出生后得到进一步确认.结论 应用比较基因组杂交技术,成功对1例先天性颅面畸形胎儿进行了产前诊断,并确定了两个与颅面骨发育有关的候选基因VWA1和PYGO2.Objective To measure the feasibility of application of comparative genomic hybridization technique in the prenatal diagnosis of fetus with mandibulofacial dysostosis. Methods A pregnant woman having a fetus with mandibulofacial dysostosis diagnosed by prenatal ultrasound test was selected. The amniotic fluid and blood of the pregnant and blood of her husband were collected and conventional cytogenetic analysis was performed. The whole genome was scanned by array comparative genomic hybridization assay （array-CGH）. Reverse transcription fluorescence quantitative PCR（RT-qPCR） analysis was used to verify the result of array-CGH. Results No abnormality was found in conventional cytogenetic analysis while a duplicated region in 1p36.33 was detected by array-CGH assay. The region spans 722 kb and contains two genes, VWA1 and PYGO2, which play roles in the development of cartilage. The result of array-CGH was confirmed by the RT-qPCR assay. The diagnosis of mandibulofacial dysostosis was confirmed after birth. Conclusion Author diagnosed a fetus with mandibulofacial dysostosis by array-CGH assay and found two candidate genes related to the development of craniofacial bone： VWA1 and PYGO2.

关 键 词：基因组检测 颅面骨畸形 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]