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我国辽宁地区遗传性粘多糖贮积症Ⅰ型患者α-L-艾杜糖醛酸酶基因突变的研究 被引量：3

The mutation of α-L-iduronidase gene for mucopolysaccharidosis type I in Liaoning district populations
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摘要 目的探讨我国粘多糖贮积症I型患者α-L-艾杜糖醛酸酶基因的突变情况。方法采用PCR-SSCP和DNA测序的方法检测我国辽宁地区10个粘多糖贮积症I型家系α-L-艾杜糖醛酸酶基因的突变类型。结果①发现我国辽宁地区粘多糖贮积症I型患者α-L-艾杜糖醛酸酶基因存在2种新的突变类型R363H和880+g-c。②同时发现3种多态性位点R105Q、L118和A361T。结论我国辽宁地区粘多糖贮积症I型患者α-L-艾杜糖醛酸酶基因的突变情况不同于其他国家和地区,但其多态性与Scott等报道的欧裔患者情况相似[1]。 AIM: To investigate the mutatation type and polymorphism site in the α-L-iduronidase (IDUA) gene of Liaoning district MPS-I patients. METHODS: The mutation type and polymorphism site in the IDUA gene of Liaoning district mucopolysaccharidosis type I (MPS-I) patients were detected by PCR-SSCP and DNA sequencing. RESULTS: ① 2 new mutations: R363H, 880+g-c in the IDUA gene of Liaoning district MPS-I patients were found. ② There were 3 polymorphism sites: R105Q、L118 and A361T in the IDUA gene of Liaoning district MPS-I patients. CONCLUSIONS: The mutation type in the IDUA gene of Liaoning district MPS-I patients is different from that of other countries and districts, while the polymorphism site in the IDUA gene of Liaoning district MPS-I patients is the same as that of other countries. [
作者 孙鲁宁 王海波 董贵章 张海鹏
机构地区 中国医科大学病理生理学教研室 中国医科大学第一临床医院儿科实验室
出处 《中国病理生理杂志》 CAS CSCD 北大核心 2005年第1期54-57,共4页 Chinese Journal of Pathophysiology
基金 国家自然科学基金资助项目(No.39570745)
关键词 粘多糖累积病Ⅰ型 艾杜糖醛酸酶 突变 多态现象 Mucopolysaccharidosis I Iduronidase Mutation Polymorphism
分类号 R363 [医药卫生—病理学]
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参考文献10

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同被引文献41

  • 1窦薇,彭超,郑俊克,顾学范.粘多糖贮积症Ⅰ型IDUA基因的一个新突变[J].中华医学遗传学杂志,2007,24(2):136-139. 被引量：3
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  • 6Venturi N,Rovelli A,Parini R,et al.Molecular analysis of 30 mucopolysaccharidosis type Ⅰ patients:evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.Hum Mutat,2002,20:231.
  • 7Hein LK,Hopwood JJ,Clements PR.et al.The alpha-Liduronidase mutation R89Q and R89W result in an attenuated mucopolysaccharidosis type Ⅰ clinical presentation.Biochim Biophy Acta,2003,1639:95-103.
  • 8Lee-Chen GJ,Lin SP,Chen IS,et al.Mucopolysaccharidosis type Ⅰ:identification and characterization of mutations affecting alpha-L-iduronidase activity.J Formos Med Assoc,2002,101:425-428.
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  • 10Yogalingam G,Guo XH,Muller VJ,et al.Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type Ⅰ patients undergoing enzyme replacement therapy.Hum Mutat,2004,24:199-207.

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中国病理生理杂志
2005年 第1期

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