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
Dans Zh
| WPRIM
| ID: wpr-525763
Responsable en Bibliothèque :
WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Type d'étude:
Diagnostic_studies
langue:
Zh
Texte intégral:
Chinese Journal of Pathophysiology
Année:
1999
Type:
Article