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与白癜风相关的变体。

variant associated with vitiligo.

作者信息

Li Fucheng, Liao Can, Li Ru, Zhang Yongling, Jing Xiangyi, Li Dongzhi, Deng Weiping

机构信息

Department of Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University Guangzhou China.

Department of Dermatology Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences) Southern Medical University Guangzhou China.

出版信息

Skin Health Dis. 2023 Aug 16;3(5):e278. doi: 10.1002/ski2.278. eCollection 2023 Oct.

Abstract

The manuscript addresses an important topic: genetic analysis of Vitiligo. Vitiligo is a complicated condition and the genetic factors account for 80% of the risk. Linkage analysis for a four generations Chinese family identified 16p13.3p13.2 as the susceptibility locus of vitiligo, whole exome sequencing then identified PDIA2 as the new candidate gene. The association between the candidate gene and vitiligo requires further investigation.

摘要

该手稿探讨了一个重要主题

白癜风的基因分析。白癜风是一种复杂的病症,其中80%的发病风险由遗传因素导致。对一个四代中国人家系进行的连锁分析确定16p13.3p13.2为白癜风的易感基因座,随后全外显子测序确定PDIA2为新的候选基因。该候选基因与白癜风之间的关联尚需进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5417/10549816/b35265823803/SKI2-3-e278-g001.jpg

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