摘要
The complementary and genomic DNA segments of the α-L-iduronidase gene from two Chinese mucopolysaccharidosis type I Hurler/Scheie (MPS IH/S) patients were amplified by polymerase chain reaction (PCR) and DNA sequencing was done to study their molecular lesions. Patient W3 has heterozygous mutations; the maternal allele has M1I (G to A transition in the initiation codon ATG) and the paternal allele has Y343X (C to G transversion in exon 8 leading to in frame deletion of codons 325-343 from the mRNA owing to false splicing). Patient W2 is homozygous for mutation T364M (C to T transition in codon 364). The mutation was paternally inherited. A de novo deletion or gene conversion event may have resulted in apparent homozygosity for T364M. Expression of Y343X and T364M showed trace amounts of α-L-iduronidase activity compared to that of normal cDNA upon transfection into COS-7 cells.
原文 | 英語 |
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頁(從 - 到) | 939-941 |
頁數 | 3 |
期刊 | Journal of medical genetics |
卷 | 34 |
發行號 | 11 |
DOIs | |
出版狀態 | 已發佈 - 1997 |
ASJC Scopus subject areas
- 遺傳學
- 遺傳學(臨床)