hPARP1 genetic polymorphism in southern Chinese Han and Miao populations.
- Author:
Huan-wen TANG
1
;
Hai-rong LIANG
;
Zhi-xiong ZHUANG
;
Da-lin HU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Alleles; China; Exons; genetics; Female; Gene Frequency; Genotype; Humans; Male; Poly (ADP-Ribose) Polymerase-1; Poly(ADP-ribose) Polymerases; genetics; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; genetics; Polymorphism, Single-Stranded Conformational
- From: Chinese Journal of Medical Genetics 2006;23(5):578-580
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study hPARP1 genetic polymorphism in southern Chinese Han and Miao populations.
METHODSBlood samples from 187 and 210 southern healthy Han and Miao populations were collected. The mutations of exons 12,13,16 and 17 of hPARP1 gene were investigated by PCR-single-strand conformation polymorphism(SSCP).
RESULTSFragments of 253 bp,313 bp,175 bp,362 bp within exons 12,13,16 and 17 respectively of hPARP1 gene were amplified by multiple PCR. An SSCP variant in exons 12,13,16 and 17 of PARP1 gene in 187 healthy Han and 210 healthy Miao individuals was identified. Seven single-base substitutions compared with the sequence of PARP1 gene were identified: a T to C transition in exon 12 (Phe548Ser), a G to T transition in exon 13 (Ala683Ser), a G to T transition in exon 16 (Asp798Tyr), and a A to G transition in exon 17 (His808Arg).
CONCLUSIONThere were polymorphism sites in exons 12,13,16,17 of hPARP1 gene in southern Chinese Han and Miao populations; these results may be useful for the establishment of PARP1 genotyping, and these newly described PARP1 alleles would be advantageous indicators for population studies.
