ABSTRACT
<p><b>OBJECTIVE</b>To investigate the single nucleotide polymorphism(SNP) loci of HIV-1 coreceptor CCR5 gene in Chinese Han people.</p><p><b>METHODS</b>The coding region of CCR5 was amplified using 2 pairs of primers and the PCR products of all 42 healthy subjects were sequenced by 4 different primers. The results of sequencing were analyzed by DNAstar in search of SNP loci.</p><p><b>RESULTS</b>Six SNP loci were discovered in the coding region of CCR5, among them four SNPs, i.e. 184A-->G, 503G-->T, 688G-->A and 999G-->T, cause amino acids changes and two SNPs are nonsense mutations. One cytosine deletion at the 894nt results in frame shift mutation and prematured termination. 184A-->G, 503G-->T and 999G-->T were found in Chinese Han people for the first time. The allelic frequencies of mutant 184G, 503T and 999T alleles were 1.1%, 21.1% and 10.0% in healthy Hans, respectively. The population distribution of G503T markedly deviated from Hardy-Weinberg equilibrium.</p><p><b>CONCLUSION</b>The SNP loci in the coding region of CCR5 in Chinese Han people has its own characteristics, which is not consistent with those of Japanese and obviously different from those of Caucasian and African.</p>
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Base Sequence , China , DNA , Chemistry , Genetics , DNA Mutational Analysis , Gene Frequency , HIV-1 , Metabolism , Point Mutation , Polymorphism, Single Nucleotide , Genetics , Receptors, CCR5 , Genetics , Metabolism , Sequence DeletionABSTRACT
<p><b>OBJECTIVE</b>To investigate the V249I and T280M allelic polymorphisms of human immunodeficiency virus (HIV) coreceptor CX3CR1 in HIV-1 infected and uninfected population of Chinese indigenous Han and Uygur people and to probe the association between I249-M280 haplotype and HIV-1 susceptibility as well as AIDS progression.</p><p><b>METHODS</b>Genomic DNA of 223 Uygur subjects and 316 Han subjects were purified from PBMC. I249 and M280 allelic frequencies were identified by polymerase chain reaction (PCR)/nest polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. All data were tested by chi(2) or u statistics analysis.</p><p><b>RESULTS</b>Allelic frequencies of I249 and M280 were 16.1% and 13.3% in Uygur people, and 3.3% and 2.4% in Han people. No obvious difference existed between three groups of either ethnic group. However the allelic frequencies of HIV infected population were higher than those of general population, and those of general population higher than those of HIV-1 high-risk group. There was a strong linkage between I249 and M280 (P almost zero).</p><p><b>CONCLUSIONS</b>I249 mutation was the sine qua non of M280 mutation, and most I249 alleles were accompanied by M280. The frequency of I249-M280 haplotype in Uygur population (13.3%) was adjacent to Caucasian people (15.8%), and that of I249-T280 haplotype (2.8%) was obviously lower than Caucasian people (12.5%); while both of them in Han people were much lower (0.9% and 2.4%). I249-M280 haplotype could accelerate AIDS progression according to Faure et al, while might be associated with HIV-1 susceptibility.</p>
Subject(s)
Humans , Alleles , Asian People , Genetics , CX3C Chemokine Receptor 1 , China , Epidemiology , Ethnology , Chromosomes, Human, Pair 3 , Ethnicity , HIV Infections , Epidemiology , Genetics , Virology , HIV-1 , Genetics , Haplotypes , Membrane Proteins , Genetics , Metabolism , Point Mutation , Polymorphism, Restriction Fragment Length , Receptors, Chemokine , Genetics , Metabolism , Receptors, HIV , Genetics , Physiology , Risk FactorsABSTRACT
<p><b>OBJECTIVE</b>To study the polymorphism of human immunodeficiency virus (HIV)-1 coreceptor CXCR4 in Chinese Han ethnic group for AIDS prevention and treatment.</p><p><b>METHODS</b>Totally 48 individuals were enrolled into the study. CXCR4 (cDNA No-AF147204) was cloned by PCR amplification using 2 pairs of primers, then sequenced using sequencing primers. The results of the same sequencing primers were analyzed by DNAstar software to find and identify single nucleotide polymorphism (SNP) sites.</p><p><b>RESULTS</b>Totally 7 SNPs were found in the coding region of CXCR4, among them 3 were synonymous mutation (C-->T at loci 129, 426 and 968), 3 were missense mutation (C-->T at locus 38, A-->T at locus 90, and A-->C at locus 712) and 1 was stop mutation (C-->T at 106, which converted the codon for glutamic acid into stop codon).</p><p><b>CONCLUSIONS</b>The polymorphism of CXCR4 coding region in Chinese Han is probably different from that of the other ethnic groups. Six of the 7 SNPs were discovered for the first time. Their influences on AIDS progression are worthy of studying.</p>