摘要
DNA screening for mutations in the α-L-iduronidase (IDUA) gene was performed in a Chinese mucopolysaccharidosis type IH/S patient. The patient had two different mutations: the maternal allele has L346R (t-g transversion in codon 346) and the paternal allele has 388-3c-g (c-g transversion at position -3 of the 3' splice site of intron 2). In transfected COS-7 cells, L346R showed no appreciable IDUA activity (0.4% of normal activity), although it did not cause an apparent reduction in IDUA mRNA or protein level. The 388-3c-g mutation profoundly affects normal splicing leading to a very unstable mRNA. Expression of the IDUA cDNA containing the mutated acceptor splice site showed trace amounts of enzyme activity (1.6% of normal activity). The results provide further support for the importance of cytosine at the -3 position in RNA processing.
原文 | 英語 |
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頁(從 - 到) | 131-136 |
頁數 | 6 |
期刊 | Clinical Genetics |
卷 | 57 |
發行號 | 2 |
DOIs | |
出版狀態 | 已發佈 - 2000 |
ASJC Scopus subject areas
- 遺傳學
- 遺傳學(臨床)