Liu Yan-hui, Shi Shao-quan, Zhang Yan-liang, Dai Yong, Shang Xuan, Wu Ya-min, Li Chao-qiang, Li Li-fen
Laboratory Center of Tunwah Hospital, Sun Yat-sen University, Dongguan, Guangdong, 523110 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Aug;27(4):437-40. doi: 10.3760/cma.j.issn.1003-9406.2010.04.017.
To measure the feasibility of application of comparative genomic hybridization technique in the prenatal diagnosis of fetus with mandibulofacial dysostosis.
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.
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.
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.
探讨比较基因组杂交技术在胎儿下颌面骨发育不全产前诊断中的应用可行性。
选取1例产前超声诊断为胎儿下颌面骨发育不全的孕妇，采集孕妇羊水、血液及丈夫血液，进行常规细胞遗传学分析。采用阵列比较基因组杂交技术（array-CGH）扫描全基因组。应用逆转录荧光定量PCR（RT-qPCR）分析验证array-CGH结果。
常规细胞遗传学分析未见异常，array-CGH检测发现1p36.33区域存在重复，该区域跨度722 kb，包含两个基因VWA1和PYGO2，这两个基因在软骨发育中起作用。RT-qPCR分析证实了array-CGH结果。出生后确诊为下颌面骨发育不全。
作者通过array-CGH技术诊断出1例胎儿下颌面骨发育不全，并发现两个与颅面骨发育相关的候选基因：VWA1和PYGO2。
