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
,
2
;
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
2. 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.
