Screening of familial primary biliary cholangitis and research on low-frequency mutations by whole-exome sequencing
10.3760/cma.j.issn.1007-3418.2018.05.014
- VernacularTitle: 原发性胆汁性胆管炎家系筛查及其低频突变的全外显子组测序研究
- Author:
Shuai ZHANG
1
;
Guanya GUO
;
Xia ZHOU
;
Ying HAN
Author Information
1. State Key Laboratory of Cancer Biology, Xijing Hospital of Digestive Diseases, The Fourth Military Medical University, Xi'an 710032, China; Xijing Hospital of Digestive Diseases, The Fourth Military Medical University, Xi'an 710032, China
- Publication Type:Journal Article
- Keywords:
Primary biliary cholangitis;
Pedigree;
Whole exome sequence
- From:
Chinese Journal of Hepatology
2018;26(5):388-392
- CountryChina
- Language:Chinese
-
Abstract:
Objective:Screening of patients with familial primary biliary cholangitis by using whole-exome sequence to find common low-frequency mutations and to explore its pathogenesis.
Methods:The confirmed data of PBC patients diagnosed in Xijing hospital from 2005 to 2016 were collected, and their first-degree relatives' autoantibodies were screened for diagnosis. DNA extraction from PBC patients and normal controls in two high-incidence families was performed for whole-exome sequencing, and the low-frequency mutations in the family were screened.
Results:A total of 435 PBC patients and 946 first-degree relatives were screened, and 18 (1.90%) first-degree relatives were also diagnosed with PBC, which was distributed in 16 families (3.68%). The whole-exome sequencing results showed that the common low-frequency mutations of 7 patients in 2 families consisted of 16 single nucleotide polymorphisms and 2 InDel markers, of which ANO2(rs17788563) may be correlated to the pathogenesis of PBC.
Conclusion:There is high-incidence of PBC in the family members of PBC patients with low-frequency mutation sites and their sites may be involved in the pathogenesis of PBC.
