小兒科WANG, TSO-RENTSO-RENWANGHWU, WUH-LIANGWUH-LIANGHWU2008-12-292018-07-112008-12-292018-07-112000http://ntur.lib.ntu.edu.tw//handle/246246/94798DNA screening for mutations in the alpha-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.en-USacceptor splice sitealpha-L-iduronidaseMPS IH/Snovel mutationsMOLECULAR-GENETICSCDNA ISOLATIONjournal article