Mutation analysis of ATP6V0A4 and ATP6V1B1 gene in autosomal recessive distal renal tubular acidosis children
10.3760/cma.j.issn.1001-7097.2012.01.001
- VernacularTitle:常染色体隐性遗传性远端肾小管酸中毒患儿ATP6V0A4和ATP6V1B1基因突变分析
- Author:
Yanxia GAO
;
Yihe DOU
;
Aihua SUI
;
Yanhua LANG
;
Leping SHAO
- Publication Type:Journal Article
- Keywords:
Renal tubular acidosis,distal;
Mutation;
ATP6V0A4;
ATP6V1B1
- From:
Chinese Journal of Nephrology
2012;28(1):1-4
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze and identify the mutations of ATP6V0A4 and ATP6V1B1 gene in autosomal recessive distal renal tubular acidosis (rdRTA) children,and study the association of genotype and phenotype. Methods Genome DNA was amplified by PCR.Mutations of ATP6V0A4 and ATP6V1B1 gene in 3 children from 3 families were examined by direct sequencing.One hundred unrelated healthy subjects were selected to evaluate all mutations found in this study. Results A novel homozygous nonsense mutation was identified in ATP6VOA4 gene in one child, and a novel heterozygous nonsense variant and a frame-shift alteration were found in another child.No mutation of both genes was found in the third child.Conclusions Study of mutant genes of rdRTA in Chinese patients is helpful to understand the association in genotype and phenotype and increase the level of cognition and treatment to this disease.
