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[An analysis of mutations causing Gaucher disease in Chinese population].

Authors :
Zhang WM
Tang NL
Meng Y
Yao FX
Qiu ZQ
Duan YL
Huang SZ
Shi HP
Source :
Zhonghua yi xue za zhi [Zhonghua Yi Xue Za Zhi] 2009 Dec 29; Vol. 89 (48), pp. 3397-400.
Publication Year :
2009

Abstract

Objective: To review and investigate the relationship of genotype and phenotype in Chinese patients with Gaucher disease (GD).<br />Methods: The samples were first screened for known mutations as reported previously in Chinese population. Long chain PCR and nested PCR were employed to amplify the segments of glucocerebrosidase functional gene in patients with unknown mutant alleles. The products of nested-PCR were subjected to DNA sequencing to detect the new mutations.<br />Results: Forty kinds of mutations were detected in this panel of patients. The L444P mutation was the most common one accounting for 33.0% of mutant alleles. It was followed by F213I, N188S, V375L and M416V.<br />Conclusion: There are at least 40 mutations in Chinese GD patients. The spectrum of mutation is significantly different from that in Caucasians. 70% of mutant alleles have been characterized. It becomes feasible to make clinical and prenatal diagnoses through gene analysis.

Details

Language :
Chinese
ISSN :
0376-2491
Volume :
89
Issue :
48
Database :
MEDLINE
Journal :
Zhonghua yi xue za zhi
Publication Type :
Academic Journal
Accession number :
20223112