[Polymorphisms of neural nicotinic cholinergic receptor alpha 4 gene of Chinese].
OBJECTIVE
To screen for polymorphisms in alpha 4 subunit (principal subunit of nAChR) gene (CHRNA4).


METHODS
DNA was extracted from leukocytes of all subjects including 100 healthy senior people and 100 patients with Parkinson's disease (PD). The exons and adjacent intron regions of CHRNA4 were amplified with PCR. SNPs were screened by denatured high performance liquid chromatography (DHPLC) techniques and restriction fragment length polymorphisms. Potential mutations were confirmed by sequencing.


RESULTS
Total 10 polymorphisms were detected and identified in coding and adjacent intron regions of nAChR alpha 4 gene, that are 420C/T (0.873/0.127), 870C/T (0.828/0.172), 1440A/C (0.858/0.142), 1860C/T (0.738/0.262), 1890C/T (0.605/0.395), intron 5 +14T/C (0.553/0.447), intron 2 +22G/A (0.873/0.127), intron 3 +182 Del22bp (0.813/0.187), 1758C/T and 1809C/T (reference for coding sequence is GenBank SNPs 000744), of which the last three are novel mutations. PD patients appeared higher frequency of deletion in intron 3+182(0.235) than normal controls (0.140)(P=0.015).


CONCLUSIONS
nAChR alpha 4 gene is polymorphic. PD patients take higher frequency of intron3+182 Del 22 bp.
Zhang
Li-mei
LM
Department of Neurology, Beijing Institute of Geriatrics, Xuanwu Hospital, Capital University of Medical Sciences, Beijing 100053, P. R. China. limeizhang70@hotmail.com
Chen
Biao
B
Feng
Xiu-li
XL
Dong
Xiu-min
XM
Wang
Wei-zhi
WZ
D000368:Aged; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010300:Parkinson Disease / Q000235:genetics; D011110:Polymorphism, Genetic; D011978:Receptors, Nicotinic / Q000235:genetics*; D017422:Sequence Analysis, DNA
D011978:Receptors, Nicotinic