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Int. J. Mol. Sci. 2012, 13(5), 5972-5981; doi:10.3390/ijms13055972

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

1
Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Donghu Rd 169, Wuchang District, Wuhan 430071, China
2
Institute of Forensic Science, Zhongnan Hospital of Wuhan University, Donghu Rd 169, Wuchang District, Wuhan 430071, China
*
Author to whom correspondence should be addressed.
Received: 27 March 2012 / Revised: 2 May 2012 / Accepted: 9 May 2012 / Published: 16 May 2012
(This article belongs to the Section Molecular Diagnostics)
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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. View Full-Text
Keywords: cell-free fetal DNA; noninvasive prenatal diagnosis; gender determination; Y-chromosome specific STR cell-free fetal DNA; noninvasive prenatal diagnosis; gender determination; Y-chromosome specific STR
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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MDPI and ACS Style

Rong, Y.; Gao, J.; Jiang, X.; Zheng, F. Multiplex PCR for 17 Y-Chromosome Specific Short Tandem Repeats (STR) to Enhance the Reliability of Fetal Sex Determination in Maternal Plasma. Int. J. Mol. Sci. 2012, 13, 5972-5981.

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