[Establishment and application of an analytical method for PINK1 gene exon copy number].
OBJECTIVE
To establish a method for analyzing the PTEN-induced kinase 1 gene (PINK1) exon copy number and apply it to the analysis of PINK1 gene exon copy number variation (CNV) in patients with autosomal recessive early-onset Parkinsonism (AREP).


METHODS
Real-time PCR was used to analyze the exon copy number in 22 probands with AREP from unrelated Chinese Han families and 30 healthy controls.


RESULTS
Copy numbers of exons 1-8 of the PINK1 gene were analyzed, and satisfactory reaction conditions and primers for exons of the PINK1 gene were obtained. No exon CNV in the PINK1 gene was detected in this group.


CONCLUSIONS
An analytical method for PINK1 gene exon copy number was established. The exon CNV in the PINK1 gene was rare in Chinese patients with AREP.
Zhang
Hai-nan
HN
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
Liao
Bing
B
Nie
Li-luo
LL
Guo
Jif-eng
JE
Wang
Chun-yu
CY
Zhang
Xue-wei
XW
Yan
Xin-xiang
XX
Tang
Bei-sha
BS
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics*; D005260:Female; D018628:Gene Dosage / Q000235:genetics*; D006801:Humans; D008297:Male; D020734:Parkinsonian Disorders / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D011494:Protein Kinases / Q000235:genetics*; D055815:Young Adult; D000099202:PTEN-Induced Putative Kinase
D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase