Detection of common deafness mutation by maternal plasma cell-free DNA

作者：Meng, M.; Huo, R.; Han, M. -Y.; Chi, F. -L.; Dai, P.; He, L.; Qin, S. -Y.^*; Duan, T.

来源：European Review for Medical and Pharmacological Sciences, 2014, 18(10): 1544-1548.

• Prenatal diagnosis
• LDR microarray
• Congenital deafness
• Maternal plasma DNA

OBJECTIVES: The aim is to investigate the use of the ligase detection reaction (LDR) microarray to examine the difference of the single nucleotide between the pregnant woman and the fetus by cell-free DNA in the maternal plasma in congenital deafness.
MATERIALS AND METHODS: The proband and the couples' venous blood samples and the amniotic fluid/ chorionic villi collected from seven deafness families for prenatal diagnosis were analyzed. The cell-free DNA from maternal plasma was examined to determine if they carried the mutations of GJB2 235delC.
RESULTS: Three samples were found to carry the mutation of GJB2 235delC. It is in agreement with the sequencing results. The affected fetuses were suggested to take invasive procedure for confirmation.
CONCLUSIONS: The chip may be a potential method to screen for congenital deafness based on maternal plasma DNA.

• 出版日期2014-5
• 单位中国人民解放军总医院; 复旦大学; 上海交通大学; 同济大学