Highly sensitive and reliable human sex determination using multiplex PCR

Gender validation is indispensable in data verification for demographic information particularly in large-scale population studies and also as part of the quality assurance of biospecimen repositories. Gender validation is also critical as part of quality control processes before specimens are subje...

Full description

Bibliographic Details
Main Authors:	Junaida Osman, Nor Azian Abdul Murad, Chin, Siok-Fong, Rahman Jamal
Format:	Article
Language:	English
Published:	Pusat Perubatan Universiti Kebangsaan Malaysia 2014
Online Access:	http://journalarticle.ukm.my/13237/ http://journalarticle.ukm.my/13237/ http://journalarticle.ukm.my/13237/1/19-40-1-SM.pdf

id	ukm-13237
recordtype	eprints
spelling	ukm-132372019-07-30T21:28:01Z http://journalarticle.ukm.my/13237/ Highly sensitive and reliable human sex determination using multiplex PCR Junaida Osman, Nor Azian Abdul Murad, Chin, Siok-Fong Rahman Jamal, Gender validation is indispensable in data verification for demographic information particularly in large-scale population studies and also as part of the quality assurance of biospecimen repositories. Gender validation is also critical as part of quality control processes before specimens are subjected to sequencing analysis to identify germline and somatic mutations. The SRY gene is considered a useful signature gene marker that differentiates male from female. The aim of the study was to validate the SRY gene marker for use in gender determination in large cohort studies. SRY gene-specific sequences were amplified by PCRCR, electrophoresed on agarose gels and the 254 bp band was visualized for male samples. A series of DN A template concentrations were tested for sensitivity determination. The reaction was validated on 48 gender-blinded samples obtained from the UMBI BioBank to determine the specificity. ATL1 gene-specific sequence on X chromosome was used as the internal control. This PCR method has demonstrated 100% gender specificity. The sensitivity of the reaction was demonstrated with as low as 0.1 ng male DN A. The findings had suggested that SRY analysis by Multiplex PCR is a highly sensitive and specific method for gender determination and can be extremely useful for large-scale samples. Pusat Perubatan Universiti Kebangsaan Malaysia 2014 Article PeerReviewed application/pdf en http://journalarticle.ukm.my/13237/1/19-40-1-SM.pdf Junaida Osman, and Nor Azian Abdul Murad, and Chin, Siok-Fong and Rahman Jamal, (2014) Highly sensitive and reliable human sex determination using multiplex PCR. Asia-Pacific Journal of Molecular Medicine, 4 (1). pp. 1-4. ISSN 2232-0326 http://spaj.ukm.my/apjmm/index.php/apjmm/issue/view/8
repository_type	Digital Repository
institution_category	Local University
institution	Universiti Kebangasaan Malaysia
building	UKM Institutional Repository
collection	Online Access
language	English
description	Gender validation is indispensable in data verification for demographic information particularly in large-scale population studies and also as part of the quality assurance of biospecimen repositories. Gender validation is also critical as part of quality control processes before specimens are subjected to sequencing analysis to identify germline and somatic mutations. The SRY gene is considered a useful signature gene marker that differentiates male from female. The aim of the study was to validate the SRY gene marker for use in gender determination in large cohort studies. SRY gene-specific sequences were amplified by PCRCR, electrophoresed on agarose gels and the 254 bp band was visualized for male samples. A series of DN A template concentrations were tested for sensitivity determination. The reaction was validated on 48 gender-blinded samples obtained from the UMBI BioBank to determine the specificity. ATL1 gene-specific sequence on X chromosome was used as the internal control. This PCR method has demonstrated 100% gender specificity. The sensitivity of the reaction was demonstrated with as low as 0.1 ng male DN A. The findings had suggested that SRY analysis by Multiplex PCR is a highly sensitive and specific method for gender determination and can be extremely useful for large-scale samples.
format	Article
author	Junaida Osman, Nor Azian Abdul Murad, Chin, Siok-Fong Rahman Jamal,
spellingShingle	Junaida Osman, Nor Azian Abdul Murad, Chin, Siok-Fong Rahman Jamal, Highly sensitive and reliable human sex determination using multiplex PCR
author_facet	Junaida Osman, Nor Azian Abdul Murad, Chin, Siok-Fong Rahman Jamal,
author_sort	Junaida Osman,
title	Highly sensitive and reliable human sex determination using multiplex PCR
title_short	Highly sensitive and reliable human sex determination using multiplex PCR
title_full	Highly sensitive and reliable human sex determination using multiplex PCR
title_fullStr	Highly sensitive and reliable human sex determination using multiplex PCR
title_full_unstemmed	Highly sensitive and reliable human sex determination using multiplex PCR
title_sort	highly sensitive and reliable human sex determination using multiplex pcr
publisher	Pusat Perubatan Universiti Kebangsaan Malaysia
publishDate	2014
url	http://journalarticle.ukm.my/13237/ http://journalarticle.ukm.my/13237/ http://journalarticle.ukm.my/13237/1/19-40-1-SM.pdf
first_indexed	2023-09-18T20:04:24Z
last_indexed	2023-09-18T20:04:24Z
_version_	1777407061956493312

Highly sensitive and reliable human sex determination using multiplex PCR

Similar Items