The mutation of ?-L-iduronidase gene for mucopolysaccharidosis type I in Liaoning district populations
- VernacularTitle:我国辽宁地区遗传性粘多糖贮积症Ⅰ型患者?-L-艾杜糖醛酸酶基因突变的研究
- Author:
Luning SUN
;
Haibo WANG
;
Guizhang DONG
;
Haipeng ZHANG
- Publication Type:Journal Article
- Keywords:
Mucopolysaccharidosis I;
Iduronidase;
Mutation;
Polymorphism
- From:
Chinese Journal of Pathophysiology
1986;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
AIM: To investigate the mutatation type and polymorphism site in the ?-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. [
