Detection of a new mutation (1467-A)

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.

作 者： GUO Yibin PAN Jingxin DU Chuanshu   作者单位： GUO Yibin,DU Chuanshu(Department of Medical Genetics, Preclinical Medical School, Sun Yat-sen University, Guangzhou 510080, China)

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