[Single nucleotide polymorphism of XRCC1 gene in Bouyei and Shui populations].
OBJECTIVE
To analyze the single nucleotide polymorphisms (SNPs), the genotype combinations and the allele frequency distributions of the X-ray repair cross-complementing gene 1 (XRCC1) C26304T, G27466A and G28152A in Bouyei and Shui populations.


METHODS
Genomic DNA of leukocytes in venous blood was obtained from 192 Bouyei people and 197 Shui people. The SNPs of XRCC1 C26304T, G27466A and G28152A were genotyped by polymerase chain reaction restrained fragment length polymorphism technique (PCR-RFLP).


RESULTS
Three SNPs were identified in XRCC1 C26304T, G27466A and G28152A, which were located in the exon 6, 9 and 10 respectively. All of the gene distributions matched the equilibrium law of Hardy-Weinberg. Eight genotype combinations were found in C26304T and G28152A. Seven genotype combinations were found in C26304T and G27466A. Seven genotype combinations were found in G28152A and G27466A.


CONCLUSIONS
This study reveals the features of the SNPs, the genotype combinations and the allele frequency distributions of XRCC1 and provides essential data for future studies regarding the relationship between XRCC1 SNPs, its physiological function and diseases.
Zou
Yan
Y
Department of Preventive Medicine, Zunyi Medical College, Zunyi 563000, China.
Li
Hong-bin
HB
Xi
Jing-zhuan
JZ
Lu
Xiang
X
Chen
Wei
W
D044466:Asian People / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D000076105:X-ray Repair Cross Complementing Protein 1
D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human