主页

首页 - 支持与资源 - 发表文献

2019. 05NGS

Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects

Zhaowei Zhou, Ke Wang, Juan Zhou, Can Wang, Xinde Li, Lingling Cui, Lin Han, Zhen Liu, Wei Ren, Xuefeng Wang, Keke Zhang, Zhiqiang Li, Dun Pan, Changgui Li, Yongyong Shi

阅读全文

Abstract

Background

To identify potential causative mutations in SLC2A9 and SLC22A12 that lead to hypouricemia or hyperuricemia (HUA).

Methods

Targeted resequencing of whole exon regions of SLC2A9 and SLC22A12 was performed in three cohorts of 31 hypouricemia, 288 HUA and 280 normal controls.

Results

A total of 84 high-quality variants were identified in these three cohorts. Eighteen variants were nonsynonymous or in splicing region, and then included in the following association analysis. For common variants, no significant effects on hypouricemia or HUA were identified. For rare variants, six single nucleotide variations (SNVs) p.T21I and p.G13D in SLC2A9, p.W50fs, p.Q382L, p.V547L and p.E458K in SLC22A12, occurred in totally six hypouricemia subjects and were absent in HUA and normal controls. Allelic and genotypic frequency distributions of the six SNVs differed significantly between the hypouricemia and normal controls even after multiple testing correction, and p.G13D in SLC2A9 and p.V547L in SLC22A12 were newly reported. All these mutations had no significant effects on HUA susceptibility, while the gene-based analyses substantiated the significant results on hypouricemia.

Conclusion

Our study first presents a comprehensive mutation spectrum of hypouricemia in a large Chinese cohort.

相关文章

迪赢合成—生命科学“核”动力

联系我们

电话:400-017-9077

地址:上海市闵行区光华路248号5号楼2楼

邮箱:zhengyuqing@dynegene.com

关注我们

Copyright © 2024 上海迪赢生物科技有限公司
All rights reserved.    沪ICP备2021008439号-2

网站地图 I 隐私政策