Identification of mutation in the ?-L-iduronidase gene (IDUA) in Hurler syndromes in Chinese populations / 中国病理生理杂志
Chinese Journal of Pathophysiology
;
(12)1999.
Article
in Chinese
| WPRIM
| ID: wpr-525763
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
Chinese
Journal:
Chinese Journal of Pathophysiology
Year:
1999
Type:
Article
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