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Detection of a new mutation (1467-A) for the pedigree with mucopolysaccharidosis type Ⅱ from a Chinese family
Mucopolysaccharidosis type II is of high genetic heterogeneity. PCR-DNA sequencing was used to study the mutation hot spots in the IDS gene of a Chinese MPS II pedigree. A new mutation (1467-A) not yet reported worldwide was detected. This mutation located at 448th codon in the coding region of exon 9 deletes one "A" at the end of 1467 bp (cDNA). The frame-shift mutation makes the peptide chain shorten from amino acids 550 to 459, probably altering the configuration of IDS enzyme protein remarkably and lowering the activation of IDS greatly. Therefore it is supposed to be the direct cause of the patient with MPS II and to be a necessary premise for prenatal gene diagnosis.
PAN Jingxin(Department of Internal Medicine, the Second Affiliated Hospital, Fujian University of Medical Science, Quanzhou 362000, China)
刊 名: 科学通报(英文版) SCI 英文刊名: CHINESE SCIENCE BULLETIN 年,卷(期): 2005 50(21) 分类号: P7 关键词: mucopolysaccharidosis type II gene mutation iduronate-2-sulfatase DNA sequencing【Detection of a new mutation (1467-A)】相关文章:
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