Publication in refereed journal
香港中文大学研究人员 ( 现职)
| 邓亮生教授 (化学病理学系) |
全文
| 数位物件识别号 (DOI) http://dx.doi.org/10.3760/cma.j.issn.0376-2491.2009.48.004 |
引用次数
Scopushttp://aims.cuhk.edu.hk/converis/portal/Publication/1Scopus source URL
其它资讯
摘要Objective: To review and investigate the relationship of geneotype and phenotype in Chinese patients with Gaucher disease (GD). 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. 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 F2http://aims.cuhk.edu.hk/converis/portal/Publication/13http://aims.cuhk.edu.hk/converis/portal/Publication/1, Nhttp://aims.cuhk.edu.hk/converis/portal/Publication/188S, V375L and M4http://aims.cuhk.edu.hk/converis/portal/Publication/16V. 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. Copyright ? 2009 by the Chinese Medical Association.
着者Zhang W.-M., Tang N.L., Meng Y., Yao F.-X., Qiu Z.-Q., Duan Y.-L., Huang S.-Z., Shi H.-P.
期刊名称Zhonghua Yi Xue Za Zhi
出版年份2009
月份http://aims.cuhk.edu.hk/converis/portal/Publication/12
日期29
卷号89
期次48
出版社Zhonghua Yixeuehui Zazhishe/Chinese Medical Association Publishing House
出版地China
页次3397 - 3400
国际标準期刊号0376-249http://aims.cuhk.edu.hk/converis/portal/Publication/1
语言英式英语
关键词Acidβ-glucosidase, Chinese, Gaucher disease, Mutation
