[DNA mismatch repair enzyme hMSH2 genetic polymorphism in southern Chinese Han population].
OBJECTIVE
To study hMSH2 genetic polymorphism in southern Chinese Han population.


METHODS
The basic materials and blood samples from 163 southern Chinese were collected. The mutations of exon 6 and exon 7 of hMSH2 gene were investigated by PCR-SSCP, followed by DNA sequencing.


RESULTS
Fragments of 250 bp including exon 6 and fragments of 323 bp including exon 7 of hMSH2 gene were amplified by multiple PCR. The allele frequencies of C18, A82 and B39 type mutations were 0.0184, 0.0031, 0.0031, respectively. The gene frequencies and gene type frequencies of three polymorphism sites in normal population accorded with Hardy-Weinberg equilibrium (P>0.05). The heterozygosity of C18 type mutation (0.0361) was the highest.


CONCLUSIONS
There were three polymorphism sites in exon 7 of hMSH2 gene in southern Chinese Han population, among which the genotype frequency of C18 type was the highest, suggesting that C18 type mutation be a useful genetic mark.
He
Yun
Y
Faculty of Preventive Medicine, School of Public Health, Sun Yat-Sen University, Guangzhou, Guangdong, 510080 PR China. heyun-j@163.net
Zhuang
Zhi-xiong
ZX
He
Chun-hua
CH
Liu
Ru-qing
RQ
D044466:Asian People / Q000235:genetics; D020137:Base Pair Mismatch; D000072481:DNA Ligase ATP; D011088:DNA Ligases / Q000235:genetics; D053843:DNA Mismatch Repair / Q000235:genetics / Q000502:physiology; D045643:DNA Repair Enzymes / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic
D011088:DNA Ligases; D045643:DNA Repair Enzymes; D000072481:DNA Ligase ATP