CLC number: R394; R764
On-line Access: 2019-01-22
Received: 2017-12-20
Revision Accepted: 2018-03-07
Crosschecked: 2018-08-14
Cited: 0
Clicked: 4736
Jing Zheng, Wen-fang Meng, Chao-fan Zhang, Han-qing Liu, Juan Yao, Hui Wang, Ye Chen, Min-xin Guan. New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population[J]. Journal of Zhejiang University Science B, 2019, 20(2): 164-169.
@article{title="New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population",
author="Jing Zheng, Wen-fang Meng, Chao-fan Zhang, Han-qing Liu, Juan Yao, Hui Wang, Ye Chen, Min-xin Guan",
journal="Journal of Zhejiang University Science B",
volume="20",
number="2",
pages="164-169",
year="2019",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.B1700185"
}
%0 Journal Article
%T New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population
%A Jing Zheng
%A Wen-fang Meng
%A Chao-fan Zhang
%A Han-qing Liu
%A Juan Yao
%A Hui Wang
%A Ye Chen
%A Min-xin Guan
%J Journal of Zhejiang University SCIENCE B
%V 20
%N 2
%P 164-169
%@ 1673-1581
%D 2019
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1700185
TY - JOUR
T1 - New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population
A1 - Jing Zheng
A1 - Wen-fang Meng
A1 - Chao-fan Zhang
A1 - Han-qing Liu
A1 - Juan Yao
A1 - Hui Wang
A1 - Ye Chen
A1 - Min-xin Guan
J0 - Journal of Zhejiang University Science B
VL - 20
IS - 2
SP - 164
EP - 169
%@ 1673-1581
Y1 - 2019
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1700185
Abstract: non-Syndromic Hearing Loss (NSHL) is a common defect in humans. Variants of MARVELD2 at the DFNB49 locus have been shown to cause bilateral, moderate to profound NSHL. However, the role of MARVELD2 in NSHL susceptibility in the chinese population has not been studied. Here we conducted a case-control study in an eastern chinese population to profile the spectrum and frequency of MARVELD2 variants, as well as the association of MARVELD2 gene variants with NSHL. Our results showed that variants identified in the chinese population are significantly different from those reported in Slovak, Hungarian, and Czech Roma, as well as Pakistani families. We identified 11 variants in a cohort of 283 NSHL cases. Through Sanger sequencing and bioinformatics analysis, we found that c.730G>A variant has detrimental effects in the eastern chinese population, and may have relatively high correlation with NSHL pathogenicity.
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[27]List of electronic supplementary materials
[28]Table S1 Primers used in PCR
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