| Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type Ⅰ |
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| 引用本文： | 王新宁,施惠平,张为民,邱正庆,孟岩,姚凤霞,魏珉.Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type Ⅰ[J].中华医学遗传学杂志,2011,28(1):147-151. |
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| 作者姓名： | 王新宁 施惠平 张为民 邱正庆 孟岩 姚凤霞 魏珉 |
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| 作者单位： | 中国医学科学院北京协和医学院北京协和医院儿科,北京,100730;中国医学科学院基础医学研究所遗传学系,北京,100730;中国医学科学院中心实验室,北京,100730; |
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| 基金项目： | 国家重点基础研究发展计划"十一五"国家科技支持计划项目 |
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| 摘 要： | Objective Mucopolysaccharidosis type Ⅰ (MPS Ⅰ ) is an autosomal recessive diseaseresulting from the deficiency in the lysosomal enzyme α-L-iduronidase (IDUA). The present study was conducted to identify IDUA gene mutations in attenuated (MPS Ⅰ H/S and MPS Ⅰ S) patients with MPS Ⅰin northern China. Methods Fourteen exons with adjacent intronic sequences of the IDUA gene in 11 MPS Ⅰ patients were amplified by polymerase chain reaction (PCR), and the PCR products were sequenced directly and origin analysis was conducted. Results Seven mutations were detected in the 11 MPS Ⅰ patients, i.e., c. 236 C＞T(p. A79V), c. 266 G＞A(p. R89Q), c. 265 C＞T(p. R89W), c. 532G＞A(p.E178K), c. 589G＞A(p. G197S), c. 1037T＞G(p. L346R), and c. 1877 G＞A(p. W626X). All of them were known mutations. Six patients were homozygotes and 1 was heterozygote with nonsense mutation. In addition, 9 reported single nucleotide polymorphism (SNP) were detected, i. e., p. A8, p. A20, p. H33Q,p. R105Q, p. A314, p. A361T, p. T388, p. T410 and p. V454I. Conclusion The mutation spectrum of the IDUA gene in attenuated MPS Ⅰ Chinese patients may be different from that in patients from other countries.
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| 关 键 词： | 粘多糖贮积症Ⅰ型 基因突变 α-L-艾杜糖苷酸酶基因 mucopolysaccharidosis type Ⅰ α-L-iduronidase gene |
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