Identification of mutation in the ?-L-iduronidase gene (IDUA) in Hurler syndromes in Chinese populations
- VernacularTitle:我国辽宁地区粘多糖贮积症Ⅰ型患者?-L-艾杜糖醛酸酶基因的一种常见突变
- Author:
Luning SUN
;
Liming DONG
;
Haipeng ZHANG
- Publication Type:Journal Article
- Keywords:
Mucopolysaccharidosis I;
Iduronidase;
Mutation
- From:
Chinese Journal of Pathophysiology
1999;0(09):-
- CountryChina
- Language:Chinese
-
Abstract:
AIM: To investigate the mutation type in the IDUA gene of Liaoning district mucopolysaccharidosis I (MPS-I) patients. METHODS: The mutation type and polymorphism site in the IDUA gene of Liaoning district MPS-I patients were detected by PCR-RFLP, SSCP and DNA sequencing. RESULTS: ① There is a new mutation (1278-g-a) in the IDUA gene of Liaoning district MPS-I patients. ② There is no the common mutation (W402X and Q70X) of European patients and the common mutation (R89Q) of Japanese patients in the 10 families we studied. CONCLUSION: The mutation type in the IDUA gene of Liaoning district MPS-I patients is different from that of other countries and districts.
