Low Frequencies of CCR5-△32 and CCR5-m303, but High Frequencies of CCR2-641 and SDF1-3＇A Alleles in Indigenous Ethnic Groups in Mainland China

Objective:Theaiminthisstudywastoidentifytheallelicfrequenciesofthechemokine(SDF1-3'A)andchemokinereceptor(CCR5△32,CCR5m303andCCR2-64I)genesresistanttoHIV-1infectionand/ordiseaseprogressioninindigenousChinesepopulations.Methods:ByusingQIAampDNABloodMiniKit,thegenomicDNAsampleswerepurifiedfromwholeperipheralbloodofhealthyindividuals(n=2067)fromHan,Uygur,MongolianandTibetanethnicgroups,aswellasHanpatientsincludingHIV-1carriers(n=330),patientswithothersexuallytransmitteddiseases(STDs,n=259)andintravenousdrugusers(IVDUs,n=125).TheallelicpolymorphismswereidentifiedbymeansofPCRorPCR-RFLPanalyses.ThesequencesofrandomlyselectedamplifiedPCRproductswerefurtherconfirmedbydirectDNAsequencing.Results:Themutantfrequencieswereidentifiedtobe0%-3.48%forCCR5△32,0%forCCR5m303,19.15%-28.79%forCCR2-64and19.10%-28.73%forSDF1-3'Aalleles,respectively,inChinesehealthyindividualsfromfourethnicgroups.Ourfindingsindicatedtheallelicfrequenciesvaryamongthedifferentethnicgroups.Furthermore,theHIV-1carriers,STDcasesandIVDUs(allofHanethnicity)werefoundtohavetheallelicfrequenciesof0%-0.19%(CCR5A32),0%(CCR5m303),19.31%-20.45%(CCR2-64)and25.61%-26.83%(SDF1-3'A)withminorvariationsintheirfrequenciesbetweenthepatientsandhealthyHangroups.TherewasnoCCR5-m303mutationfoundinanysubjectinthisstudy.Conclusion:TheexaminedsubjectsoffourChineseethnicoriginsshowedlowerfrequenciesofCCR5A32andCCR5m303alleles,buthigherfrequenciesofmutantCCR264IandSDF1-3'Aallelescomparedtothoseidentifiedinnorthern-EuropeanandAmericanCaucasians.ThesignificanceofthedifferentfrequenciesandpolymorphismsoftheaboveallelesinChinesepopulationsneedstobefurtherexaminedinHIV-1/AIDSdiseases.