CAJ | 학술논문

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.
목적 탐토선천성로면기형태인적산전진단기술.방법 선택산전검사B초현시태인구유로면기형적잉부1례,채집잉부양수、외주혈화기장부외주혈양본,진행상규G현대핵형분석.재채용비교기인조잡교기술(aaray comparative genomic hybridization,array-CGH)진행전기인조고분변소묘화분석,역전록형광정량PCR방법대array-CGH결과진행험증.병재환인출생후재진행중복검측학인.결과 G현대핵형분석미견이상,array-CGH현시태인1p36.33구역유중복,장도약위722 kb,해편단중VWA1화PYGO2기인여연골발육유관,정량PCR실험증실료비교기인조잡교적결과,의진위로면기형,태인출생후득도진일보학인.결론 응용비교기인조잡교기술,성공대1례선천성로면기형태인진행료산전진단,병학정료량개여로면골발육유관적후선기인VWA1화PYGO2.
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.