Identification of mutation in the ?-L-iduronidase gene (IDUA) in Hurler syndromes in Chinese populations / 中国病理生理杂志

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.