title: Multiplex PCR for 17 Y-chromosome Specific Short Tandem Repeats (STR) to enhance the reliability of fetal sex determination in maternal plasma.
abstract: 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.
authors: Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Donghu Rd 169, Wuchang District, Wuhan 430071, China.
authors: Yuan
authors: Y
authors: Rong
authors: Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Donghu Rd 169, Wuchang District, Wuhan 430071, China.
authors: Jiajia
authors: J
authors: Gao
authors: Institute of Forensic Science, Zhongnan Hospital of Wuhan University, Donghu Rd 169, Wuchang District, Wuhan 430071, China.
authors: Xinqiang
authors: X
authors: Jiang
authors: Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Donghu Rd 169, Wuchang District, Wuhan 430071, China.
authors: Fang
authors: F
authors: Zheng
mesh_terms: D053523:Amelogenin / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011933:Reagent Kits, Diagnostic; D015203:Reproducibility of Results; D012732:Sex Determination Analysis / Q000379:methods*
chemical_list: D053523:Amelogenin; D011933:Reagent Kits, Diagnostic