| PURPOSE Very little is known about allele frequency and polymorphism related to human immunodeficiency virus type 1 (HIV-1), SDF1, CCR2, and CCR5 among indigenous Zhuang,Han population, and HIV-1 infected people in Guangxi. This study was designed to investigate the allele frequency and the characteristics of gene polymorphism of CCR5Δ32, CCR2-64I, and SDF1 -3 'A in these population . In this study we also attempted to evaluate the groups hereditary susceptibility to HIV-1 infection and HIV-1 epidemic feature which was implicated in these genes mutation in Guangxi.METHODS The full length fragment of CCR5 gene coding region was amplified by PCR amplification and sequenced in 180 healthy subjects and 60 HIV-1 infected individuals from Zhuang and Han ethnic group. And then the deletion allele was determined by electrophoresis and sequencing data were analyzed by using CLUSTAL X software for identification of polymorthism. Furthermore, the mutation of CCR2-64I and SDF1-3'A genes was examined by PCR-restriction fragment-length polymorthism-based(PCR-RFLP) assay in these subjects.RESULTS(1)CCR5:None of CCR5 A 32 (32 base deletion after nucleotide 185 )was found either in 120 Zhuang and 60 Han healthy subjects or in 30 HIV-1 infected individuals from Zhuang and Han population,respectively.The deletion allelic frequency of these subjects was 0.(2) CCR2:Of 120 Zhuang healthy subjects, none of CCR2-64I homozygous mutation (G to A at nucleotide 190) was found; 61 of subjects (50.83%) were CCR2-64I heterozygous mutation. The allelic frequency was 25.42%. Same result of CCR2-64I homozygous mutation was identified in 30 HIV-1 infected individuals from Zhuang population, while 12 of samples (40%) were CCR2-64I heterozygote . The allelic frequency accounted for 20%.In contrast,there had also none of CCR2-64I homozygous mutation among 60 healthy Han subjects; 31 of them (51.67%) were CCR2-64I heterozygote. This genetic allelic frequency was 25.83%. Of 30 HIV-1 infected Han population, none of CCR2-64I homozygote was demonstrated as well, while 14 of them (46.67%) were CCR2-64I heterozygous mutation. This genetic frequency accounted for 23.33%.(3)SDF1:Of 120 Zhuang healthy subjects, 12 of subjects(10%) were SDF1-3'A homozygous mutation (G to A at nucleotide 801) and 42 of subjects (35%) were SDF1-3'A heterozygous mutation. The allelic frequency was 27.50%. 2 subjects of SDF1-3'A homozygous mutation was identified in 30 HIV-1 infected individuals from Zhuang population, while 14 of samples (46.67%) were SDF1-3'A heterozygote .The allelic frequency accounted for 30%.In contrast, there had 4 samples (6.67%) of SDF1-3'A homozygous mutation among 60 healthy Han subjects; 25 of them (41.67%) were SDF1-3'A heterozygote. This genetic allelic frequency was 27.50%. Of 30 HIV-1 infected Han population, 4 (13.33%) of SDF1-3'A homozygote was determined as well, while 11 of them (36.67%) were SDF1-3'A heterozygous mutation. This allelic frequency accounted for 31.17%.CONCLUTION(1) There isn't any CCR5Δ32 in Zhuang as well as in Han population. The results suggest that the resistant effect of CCR5Δ32 to infection with HIV-1 is lower in Zhuang and Han population, and the inherent susceptibility is higher in comparison with Europe.(2) The CCR2-64I frequency of Zhuang and Han population is higher than that of Europe. However, there is no difference between Zhuang population and Han population.(3) Compared with Europe, the SDF1-3'A frequency of Zhuang and Han population is higher, while there is no difference between Zhuang population and Han population. |