[Two novel mutations of GLA gene in Chinese patients with Fabry disease].
OBJECTIVE
To observe the disease-causing GLA gene mutations in Chinese patients with Fabry disease and the correlation between the genotype and phenotype.


METHODS
DNA from 2 Chinese patients with Fabry disease and their relatives were collected. The seven exons and nonjunctional regions of GLA gene were amplified with polymerase chain reaction and the products were sequenced. The correlation between the genotype and phenotype was analyzed.


RESULTS
Two mutations, G1168A and G1170A, located in 5' untranslated regions (5'UTR) were identified in the two probands and the two mutations were absent in normal controls. Three patients with the same genotype were found in the pedigree with G1168A mutation and there was no gene mutation carrier in the pedigree with G1170A mutation. Symptoms of the disease are less in female patients than that in male patients.


CONCLUSIONS
GLA gene mutation in 5'UTR may also be involved in the disease process of patients with Fabry disease and the phenotype is partly affected by gender.
An
Gui-peng
GP
Department of Cardiology, Qilu Hospital, Shandong University, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education and Chinese Ministry of Public Health, Jinan 250012, China.
An
Feng-shuang
FS
Zhang
Yun
Y
Zou
Yong-xin
YX
Zhang
Cheng
C
Jiang
Hong
H
Feng
Jin-bo
JB
Wang
Rong
R
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D005796:Genes; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult; D000519:alpha-Galactosidase / Q000235:genetics*
D000519:alpha-Galactosidase