[An analysis of mutations causing Gaucher disease in Chinese population].
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.
Zhang
Wei-min
WM
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
Tang
N L
NL
Meng
Yan
Y
Yao
Feng-xia
FX
Qiu
Zheng-qing
ZQ
Duan
Yan-long
YL
Huang
Shang-zhi
SZ
Shi
Hui-ping
HP
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
D005962:Glucosylceramidase