[Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism].
OBJECTIVE
To investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP).


METHODS
Mutations of ATP13A2 gene were screened by polymerase chain reaction combined with DNA direct sequencing in patients with familial AREP.


RESULTS
No pathogenic mutations in ATP13A2 gene were detected in this group. Six reported polymorphisms were identified. They were IVS6+70A>G, IVS12+66A>G, m.1849C>T, IVS20-56 G>A, m2671C>T and m2824G>A.


CONCLUSIONS
ATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.
He
Dan
D
Department of Neurology, Xiangya Hospital of Central South University, Changsha, Hunan, 410008, PR China.
Guo
Ji-feng
JF
Wang
Lei
L
Xiao
Zhi-quan
ZQ
Nie
Li-luo
LL
Zhang
Xue-wei
XW
Tang
Bei-sha
BS
D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D020734:Parkinsonian Disorders / Q000453:epidemiology* / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D006180:Proton-Translocating ATPases / Q000235:genetics*
C514983:ATP13A2 protein, human; D006180:Proton-Translocating ATPases