To investigate the distribution of the intron 4 variable number of tandem repeats (4a/b VNTR) polymorphism of the endothelial nitric oxide synthase (eNOS) gene, 99 unrelated Uyghur healthy individuals (including 38 males and 61 females) are selected and tested by means of polymerase chain reaction (PCR)-agarose gel electrophoresis. All subjects are genotyped for the eNOS gene. It is shown that the frequencies of the aa, ab, bb genotypes are 2.02% (4 cases), 22.22% (22 cases), 75.76% (75 cases), respectively. The genotype frequency and the allele frequency are not related to the sex (P=0.194, P=0.382, P>0.05). The single factor analysis of various physiological and biochemical indexes shows that the differences of all biochemical parameters are not statistically significant (P>0.05). In the Uyghur population, the frequency of the aa+ab genotypes is significantly lower than those of the Henan Han population, the Taiwan Han population, the Northern Han population and the Black Brazil population (P<0.05, P< 0.01), but is significantly higher than that of the Guangdong Han population (P=0.050). A comparison of a, b, c three allele frequencies shows that the Uyghur has a significantly different frequency from those of the Henan Han, the Taiwan Han, the Jilin Han, the Guangdong Han, the French and the Black Brazil (P<0.05, P< 0.01). In short, the eNOS gene 4a/b VNTR is in line with the Hardy-Weinbery balance law (χ²=0.017, P=0.991, P>0.05), and the group is representative. It is concluded that there is a significant difference between the Uyghur eNOS gene 4a/b VNTR polymorphism and some ethnic groups.

Uyghur  /  endothelial nitric oxide synthase gene  /  gene polymorphism  /  variable number of tandem repeats