Correlation between mutant mRNA expression of COL4A5 and phenotypes of XLAS females
- VernacularTitle:杂合突变型COL4A5基因表达与Alport综合征女性表型关系分析
- Author:
Yunfeng WANG
;
Jie DING
;
Fang WANG
- Publication Type:Journal Article
- Keywords:
Nephritis, hereditary;
Phenotype;
Genetic heterogeneity;
Messenger RNA
- From:
Chinese Journal of Nephrology
1997;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To understand the different phenotype based on COL4A5 mutations and to analyze the correlation between mutant mRNA expression of COL4A5 gene and phenotype variability of XLAS females. Methods Skin biopsy specimens were obtained from 6 XLAS females with confirmed COL4A5 deletion mutations. Total RNA was isolated from cultured skin fibroblasts and RT-PCR was performed to amplify the fragment including the mutation sequences of COL4A5 gene. The PCR products were electrophoresed with 8% polyacrylamide gel. Each fragment of PCR product revealed under polyacrylamide gel was further analyzed with the optical absorptance (A). The A ratio of mutant over total mRNA of COL4A5 gene (total mRNA means the mutant mRNA plus normal mRNA) was analyzed with different phenotypes. Results Besides microscopic hematuria, the females often had gross hematuria and persistent and severe proteinuria when the mutant a5 (IV) mRNA expression was more than the normal. Whereas the XLAS females didn't had gross hematuria and proteinuria or had discontinuous and mild proteinuria when the mutant ?5 (Ⅳ) mRNA expression was less than the normal. The proteinuria was positively correlated with the expression ratio of mutant over total mRNA of COL4A5 gene in the females. Conclusions The quantity of the mutant mRNA expression of COL4AS gene is correlated with the phenotypic severity of XLAS females. The XLAS females with much more mutant mRNA expression of COL4A5 gene show more severe phenotypes of AS.
