Multiplex PCR for 17 Y-Chromosome Specific Short Tandem Repeats (STR) to Enhance the Reliability of Fetal Sex Determination in Maternal Plasma

International Journal of Molecular Sciences

Yuan Rong²  Jiajia Gao²  Xinqiang Jiang¹ 

[1] Institute of Forensic Science, Zhongnan Hospital of Wuhan University, Donghu Rd 169, Wuchang District, Wuhan 430071, China; E-Mail:;Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Donghu Rd 169, Wuchang District, Wuhan 430071, China; E-Mails:

关键词: cell-free fetal DNA;    noninvasive prenatal diagnosis;    gender determination;    Y-chromosome specific STR;   

DOI  :  10.3390/ijms13055972

来源: mdpi

【 摘 要 】

The aim of the study was to demonstrate the influence of target gene and amplification product length on the performance of fetal gender determination systems using maternal plasma. A total of 40 pairs of plasma DNA samples from pregnant women and genomic DNA samples from maternal blood, amniotic fluid and paternal blood were isolated for gender determination by amplification of the amelogenin gene and 17 Y-chromosome STR loci, using three different commercial kits. The gender of the fetuses was confirmed by cytogenetic analysis or phenotype at birth. Both the AmpFℓSTR-Identifiler amplification kit and the Mini-STR Amplification kit for amelogenin gene detection were reliable in determining fetal gender (92.0% and 96.0%, respectively), but false negatives were present in both systems. AmpFℓSTR-Yfiler was found to be fully reliable as it amplified Y-STR in all cases of pregnancies with male fetuses and thus was 100% correct in determining fetal gender. The results demonstrated that multiple fluorescent PCR for 17 Y-STR loci was more reliable than AMELY gene testing in fetal sex determination with maternal plasma. We also found that the shorter amplification products could improve the performance of fetal gender determination systems.

【 授权许可】

CC BY   
© 2012 by the authors; licensee Molecular Diversity Preservation International, Basel, Switzerland.