1. Genetic basis of relapsing polychondritis revealed by family‐based whole‐exome sequencing
- Author
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Xinghua Guo, Junmei Feng, Gui Lian, Linkai Fang, Zhiming Lin, Zuo Xiaoyu, Jieruo Gu, Jun Qi, Xi Zhang, Yanli Zhang, and Qing Lv
- Subjects
Adult ,Male ,Candidate gene ,Heredity ,DNA Mutational Analysis ,Population ,Single-nucleotide polymorphism ,medicine.disease_cause ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,symbols.namesake ,0302 clinical medicine ,Rheumatology ,Predictive Value of Tests ,Exome Sequencing ,medicine ,Humans ,Genetic Predisposition to Disease ,Polychondritis, Relapsing ,030212 general & internal medicine ,Folliculin ,education ,Gene ,Exome sequencing ,030203 arthritis & rheumatology ,Genetics ,Sanger sequencing ,Mutation ,education.field_of_study ,business.industry ,Pedigree ,Phenotype ,symbols ,Female ,business - Abstract
AIM Genetic factors are believed to be implicated in the pathogenesis of relapsing polychondritis (RP). However, the molecular genetic determinants remain to be elucidated. This study aimed to detect the susceptibility genes of RP with whole-exome sequencing (WES) in a Chinese family and deepen our understanding of the pathogenesis of RP thereafter. METHOD A 32-year-old Chinese female proband with RP and her family including her mother with RP were enrolled in the study. The genomic DNA of 6 human subjects was extracted from peripheral blood and then gene allele mutations were identified using WES. Candidate variants with low frequency (
- Published
- 2020