Association between genotype and phenotype of ABCB4 gene mutation
10.3969/j.issn.1001-5256.2021.11.052
- VernacularTitle:ABCB4突变基因型与表型的相关性
- Author:
Yuhang WENG
1
;
Yongfeng YANG
1
Author Information
1. Department of Hepatology, Nanjing Hospital Affiliated to Nanjing University of Chinese Medicine & The Second Hospital of Nanjing, Nanjing 210003, China
- Publication Type:Reviews
- Keywords:
ABCB4;
Genotype;
Phenotype;
Mutation
- From:
Journal of Clinical Hepatology
2021;37(11):2723-2726
- CountryChina
- Language:Chinese
-
Abstract:
ABCB4-related disease is the syndrome of bile secretion disorder caused by gene mutations and can cause bile duct injury, portal hypertension, and liver cirrhosis in clinical practice. With the development of genetics and gene sequencing techniques in recent years, more and more mutation sites have been identified; however, since this is a relatively complex disease, the pathogenicity and pathogenic mechanism of mutations remain unclear. Meanwhile, since this disease is rare, it is difficult to determine the pathogenicity of ABCB4 mutations based on basic research or clinical data. Therefore, it is urgent to establish the association between ABCB4 genotypes and phenotypes and construct a complete system in basic research and clinical practice.
