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| 1 | Low Frequencies of CCR5-Δ32 and CCR5-m303,but High Frequencies of CCR2-641 and SDF1-3'A Alleles in Indigenous Ethnic Groups in China's Mainland显示文摘Objective:The aim in this study was to identify the allelic frequencies of the chemokine (SDF1-3'A) and chemokine receptor (CCR5△32, CCR5m303 and CCR2-64I) genes resistant to HIV-1 infection and/or disease progression in indigenous Chinese populations. Methods: By using QIAamp DNA Blood Mini Kit, the genomic DNA samples were purified from whole peripheral blood of healthy individuals (n=2067) from Han, Uygur, Mongolian and Tibetan ethnic groups, as well as Han patients including HIV-1 carriers (n=330), patients with other sexually transmitted diseases (STDs, n=259) and intravenous drug users (IVDUs, n=125). The allelic polymorphisms were identified by means of PCR or PCR-RFLP analyses. The sequences of randomly selected amplified PCR products were further confirmed by direct DNA sequencing. Results: The mutant frequencies were identified to be 0%-3.48% for CCR5△32, 0% for CCR5m303,19.15%-28.79% for CCR2-64 and 19.10%-28.73% for SDF1-3'A alleles, respectively, in Chinese healthy individuals from four ethnic groups. Our findings indicated the allelic frequencies vary among the different ethnic groups. Furthermore, the HIV-1 carriers, STD cases and IVDUs (all of Han ethnicity) were found to have the allelic frequencies of 0%-0.19% (CCR5A32), 0% (CCR5m303), 19.31%-20.45% (CCR2-64) and 25.61%-26.83% (SDF1-3'A) with minor variations in their frequencies between the patients and healthy Han groups. There was no CCR5-m303 mutation found in any subject in this study. Conclusion: The examined subjects of four Chinese ethnic origins showed lower frequencies of CCR5A32 and CCR5m303 alleles, but higher frequencies of mutant CCR264I and SDF1-3'A alleles compared to those identified in northern-European and American Caucasians. The significance of the different frequencies and polymorphisms of the above alleles in Chinese populations needs to be further examined in HIV-1/AIDS diseases. | 王福生 金磊 洪卫国 刘明旭 周越塑 张冰 施明 王吉明 雷周云 王哲 冯铁建 侯静 李光汉 曹韵贞 | 2002 | Chinese Journal of Sexually Transmitted Infections2002，2，1： | 5 |
| 2 | CCR5基因编码区894C缺失突变在中国人群中的发现显示文摘目的 调查中国汉族人HIV协同受体CCR5编码区基因突变和SNP特点。方法PCR扩增CCR5编码区,PCR产物直接进行基因测定。结果 在50例标本中,发现一例CCR5X编码区894ΔC杂合子;采用反向经物进行验证,确定测序结果准确无误。该人缺失引起移码突变,使CCR5C端减少了44个氨基酸。结论 中国汉族人群中存在CCR5 894ΔC,该突变能导致CCR5受体结构和功能改变。 | 刘明旭 王福生 洪卫国 王波 金磊 李京湘 韩华 孙敏 刘斌 牛宇欣 | 2002 | 中国性病艾滋病防治2002，8，1： | 4 |
| 3 | 四川彝族人群HIV-1辅助受体CX3CR1基因多态性分析显示文摘背景与目的:了解四川省彝族人群中HIV_1辅助受体CX3CR1基因多态性在正常人和HIV_1感染者中的分布特点,探讨此辅助受体多态性对HIV感染的影响。材料与方法:从202份外周血中提取基因组DNA(正常人115份,HIV_1感染者87份)。用PCR_限制性片段长度多态性(PCR_RFLP)技术检测V249I和T280M两种变体,检测结果用行列表χ2检验法进行统计学分析。结果:在检测的115例正常人样品中,249I和280M等位基因频率分别为8.3%和5.7%;HIV感染者中,两种等位基因频率分别为7.5%和5.7%。249I和280M间存在明显的连锁关系。正常人和感染者的两种等位基因频率的差异无统计学意义(P>0.05)。结论:所获得的四川彝族人群HIV_1辅助受体CX3CR1基因多态性资料有助于进一步分析四川彝族人群HIV感染和艾滋病病程的影响因素。 | 邓小玲 洪坤学 陈健平 阮玉华 许铭炎 秦光明 邢辉 李克 邵一鸣 | 2006 | 癌变.畸变.突变2006，18，6： | 2 |
| 4 | 中国汉族人CC趋化因子受体-5基因新的突变位点及多态性分析显示文摘目的 调查中国汉族人群人类免疫缺陷病毒 - 1协同受体 CC趋化因子受体 - 5 [chemokine(CC) receptor5 ,CCR5 ]编码区的基因多态性位点 ,为艾滋病的防治提供依据。方法 CCR5编码区用两对引物进行 PCR扩增 ,设计测序引物依次测序 ,样本数为 4 2份 ,用 DNAstar分析测序结果 ,寻找单核苷酸多态性 (single nucleotide polymorphism,SNP)位点。结果 在编码区共发现 6个 SNP位点 ,4个引起氨基酸改变 :A184 G、G5 0 3T、G6 6 8A、G999T;1个单碱基缺失 ,引起移码突变和提前终止。 A184 G、G5 0 3T、G999T3个中国汉族人所特有的 SNP位点为首次发现 ,等位基因频率分别为 1.2 % ,39.0 %和 9.5 % ;其中 G5 0 3T分布明显不符合 Hardy- Weinberg平衡。结论 中国汉族人 CCR5编码区 SNP位点有自己的特点 ,与高加索人和非洲人明显不同 。 | 刘明旭 王福生 洪卫国 王波 金磊 雷周云 侯静 | 2003 | 中华医学遗传学杂志2003，20，1： | 1 |
| 5 | Spatial Genetic Structure of Two HIV-I-resistant Polymorphisms (CCR2-64 Ⅰ and SDF1-3’A) Alleles in Population of Shandong Province, China显示文摘Objective To explore the spatial genetic structure of two HIV-I-resistant polymorphisms (CCR2-64Ⅰand SDF1-3’A) alleles in the population of Shandong Province, China. Methods Using the techniques of spatial stratified sampling and spatial statistics, the spatial genetic structure of the locus (CCR2-64Ⅰand SDF1-3’A), which was shown to be important co-receptor for HIV infection, was quantified from the populations of 36 sampled counties of Shandong Province, and a total of 3147 and 3172 samples were taken for testing CCR2-64I and SDF1-3’A respectively from individuals without known history of HIV-I infection and AIDS symptoms. Results There were significantly spatial genetic structures of the two alleles at different spatial distance classes on the scale of populations, but on the scale of individuals, no spatial structure was found in either the whole area of Shandong Province or the area of each sampled county. Although the change of frequencies of the two alleles with geographic locations in Shandong Province both showed gradual increase trends, their changing directions were inverse. The frequency of CCR2-64I allele gradually increased from the southwest to the northeast, while the frequency of SDF1-3’A allele gradually increased from the northeast to the southwest. However the RH to AIDS of combined types of their different genotypes did not represent obvious geographic diversity on the whole area of the Province. Conclusion The frequency of allele usually has some spatial genetic structures or spatial autocorrelation with different spatial distance classes, but the genotypes of individuals have random distribution in the same geographic area. Evaluating spatial distribution of the genetic susceptibility of HIV (AIDS) to CCR2-64I and SDF1-3’A alleles, should focus on the frequencies of combined genotypes of CCR2 and SDF1 based on the two-locus genotypes of each individual rather than the frequencies of CCR2-64I and SDF1-3’A alleles. | FU-ZHONG XUE JIE-ZHEN WANG DAO-XIN MA GUO-RONG LI PING HU | 2005 | Biomedical and Environmental Sciences2005，18，4： | 0 |
| 6 | 中国汉族人HIV-1辅助受体等相关基因CCR5、CCR2b、CXCR4和SDF1编码区SNP位点调查显示文摘目的调查中国汉族人群中HIV-1感染相关基因CCR5、CCR2b、CXCR4及SDF1编码区的基因多态性特点,为我国的艾滋病防治提供基础数据。方法 CCR5用2对引物进行PCR扩增,用PCR产物做模板直接测序。CCR2b编码区经PCR扩增后,用测序引物逐段分别测序。CXCR4(cDNA编号AF147204)编码区用2对引物进行PCR扩增,然后测序。SDF1编码区用4对引物进行PCR扩增,然后分别测序。样本总数为45例,测序结果用DNAstar综合分析,寻找和鉴定SNP位点。结果 CCR5基因编码区共发现6个SNP位点,4个引起氨基酸改变,1个单碱基缺失,引起移码突变和翻译提前终止。184A→G、503G→T、668G→A、999G→T等位基因频率分别为1.1%、21.1%、8.9%和10.0%。CCR2b编码区共发现8个SNP位点,6个错义突变,即43位G→C、190位G→A、260位C→A、302位C→A、315位G→C、433位G→A,突变频率分别为:30.0%、27.8%、32.2%、5.6%、10.0%和3.3%。CXCR4编码区共发现7个SNP位点,3个错义突变即38位C→T、90位A→T、712位A→C,1个终止突变:106位G→T,基因突变频率分别为:4.4%、4.4%、10.0%和3.3%。在SDF1编码区发现1个错义SNP位点:192位G→T,突变频率为8.9%;1例单碱基缺失:100位T缺失(100△T),引起34位氨基酸移码突变。结论中国汉族人HIV-1相关基因编码区有自己的多态性特点。4个HIV-1相关基因编码区共找到22个SNP位点,17个为首次报道;2个单碱基缺失均导致移码突变和翻译提前终止,1个已经报道。它们对HIV-1感染和艾滋病病程的影响值得进一步研究。 | 刘明旭 洪卫国 王福生 王波 金磊 雷周云 侯静 | 2003 | 传染病信息2003，16，1： | 0 |
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