| Detection of a new mutation (1467-A) for the pedigree with mucopolysaccharidosis type Ⅱ from a Chinese family |
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| 作者姓名： | GUO Yibin PAN Jingxin DU Chuanshu |
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| 作者单位： | [1]Department of Medical Genetics, Preclinical Medical School, Sun Yat-sen University, Guangzhou 510080, China [2]Department of Internal-Medicine, the Second Affiliated Hospital, Fujian University of Medical Science, Quanzhou 362000, China |
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| 基金项目： | We thank ProL Liang Zhicheng at Medical Genetics Lab, Bio-engineering Department, Ji＇nan University for providing the case. This study was partly supported by grants from the Ph. D program of the National Educational Committee （Grant No. 2000044） and the Chinese Medical Board （2003）. |
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| 摘 要： | 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.
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| 关 键 词： | 中国家庭 遗传疾病 黏多糖病 糖代谢疾病 基因突变 |
| 收稿时间： | 2005-08-18 |
| 修稿时间： | 2005-08-182005-10-14 |
Detection of a new mutation (1467-A) for the pedigree with mucopolysaccharidosis type II from a chinese family |
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| GUO Yibin PAN Jingxin DU Chuanshu.Detection of a new mutation (1467-A) for the pedigree with mucopolysaccharidosis type II from a chinese family[J].Chinese Science Bulletin,2005,50(21):2534-2536. |
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| Authors: | Yibin Guo Jingxin Pan Chuanshu Du |
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| Institution: | GUO Yibin1, PAN Jingxin2 & DU Chuanshu1 1. Department of Medical Genetics, Preclinical Medical School, Sun Yat-sen University, Guangzhou 510080, China; 2. Department of Internal Medicine, the Second Affiliated Hospital, Fujian University of Medical Science, Quanzhou 362000, China |
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| Abstract: | Mucopolysaccharidosis type II is of high genetic heterogeneity. PCR-DNA sequencing was used to study the mutation hot spots
in theIDS 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. |
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| Keywords: | mucopolysaccharidosis type II gene mutation iduro-nate-2-sulfatase DNA sequencing |
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