title: [An analysis of mutations causing Gaucher disease in Chinese population].
abstract: OBJECTIVE
  To review and investigate the relationship of genotype 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 F213I, N188S, V375L and M416V.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Clinical Research Laboratory, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China. wmzhang2004@yahoo.com.cn
authors.forename: Wei-min
authors.initials: WM
authors.lastname: Zhang
authors.forename: N L
authors.initials: NL
authors.lastname: Tang
authors.forename: Yan
authors.initials: Y
authors.lastname: Meng
authors.forename: Feng-xia
authors.initials: FX
authors.lastname: Yao
authors.forename: Zheng-qing
authors.initials: ZQ
authors.lastname: Qiu
authors.forename: Yan-long
authors.initials: YL
authors.lastname: Duan
authors.forename: Shang-zhi
authors.initials: SZ
authors.lastname: Huang
authors.forename: Hui-ping
authors.initials: HP
authors.lastname: Shi
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005776:Gaucher Disease / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D005962:Glucosylceramidase