Mucopolysaccharidosis type I: Identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families

Guey Jen Lee-Chen*, Tso Ren Wang

*此作品的通信作者

研究成果: 雜誌貢獻期刊論文同行評審

25 引文 斯高帕斯(Scopus)

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
頁(從 - 到)939-941
頁數3
期刊Journal of medical genetics
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)

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