中国傣族、景颇族人群中与艾滋病相关的CCR5△32、CCR2b-64I、SDF1-3'A等位基因多态性分布

为了调查HIV-1感染相关的等位基因CCR5△32、CCR2b-64I、SDF1-3'A在我国云南省德宏州傣族景颇族人群中的频率和多态性分布,此课题以101例傣族和113例景颇族人群为研究对象,应用PCR、PCR-RFLP(聚合酶链反应-限制性片段长度多态性)分析方法进行检测,计算突变基因频率;并对其群体分布、性别分布进行统计学分析.结果表明,中国傣族景颇族人群中未发现CCR5△32等位基因突变;傣族CCR2b-64I、SDF1-3'A基因突变频率分别为0.2130和0.2030,景颇族CCR2b-64I和SDF1-3'A基因突变频率分别为0.1637和0.1770;与中国汉族人群相比较,傣族和景颇族中SDF1-3'A突变频率较低(P值分别为0.0322和0.0021);两个民族的CCR2b-64I和SDF1-3'A等位基因群体分布符合Hardy-Weinberg平衡,在性别之间分布无显著差异.中国傣族景颇族人群的CCR2b-64I等位基因的突变频率与汉族人相似,SDF1-3'A等位基因的突变频率比汉族人低,此两种突变基因在艾滋病发病过程中的影响值得进一步研究.由于未发现CCR5△32基因突变,中国傣族景颇族人群对HIV-1感染可能有较大的遗传易感性.     

中国傣族、景颇族人群中与艾滋病相关的CCR5△32、CCR2b-64I、SDF1-3′A等位基因多态性分布

为了调查HIV-1感染相关的等位基因CCR5△32、CCR2b-64I、SDF1-3′A在我国云南省德宏州傣族景颇族人群中的频率和多态性分布,此课题以101例傣族和113例景颇族人群为研究对象,应用PCR、PCR-RFLP(聚合酶链反应-限制性片段长度多态性)分析方法进行检测,计算突变基因频率;并对其群体分布、性别分布进行统计学分析。结果表明,中国傣族景颇族人群中未发现CCR5△32等位基因突变;傣族CCR2b-64I、SDF1-3′A基因突变频率分别为0.2130和0.2030,景颇族CCR2b-64I和SDF1-3′A基因突变频率分别为0.1637和0.1770;与中国汉族人群相比较,傣族和景颇族中SDF1-3′A突变频率较低（P值分别为0.0322和0.0021）;两个民族的CCR2b-64I和SDF1-3′A等位基因群体分布符合Hardy-Weinberg平衡,在性别之间分布无显著差异。中国傣族景颇族人群的CCR2b-64I等位基因的突变频率与汉族人相似,SDF1-3′A等位基因的突变频率比汉族人低,此两种突变基因在艾滋病发病过程中的影响值得进一步研究。由于未发现CCR5△32基因突变,中国傣族景颇族人群对HIV-1感染可能有较大的遗传易感性。 Abstract:The purpose of the work is to investigate the frequencies and polymorphisms of HIV-1 resistant CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Chinese Dai and Chingpaw populations.Whole blood samples from 101 Dai subjects and 113 Chingpaw were collected randomly and their genomic DNA were extracted with QIAgen Blood Kits.Allelic frequencies were identified by PCR-RFLP analysis.Allelic polymorphisms in Dai population or Chingpaw population and both sexes in the samples were analyzed by χ2 test.The frequencies of CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Dai population were 0.0000,0.2130,0.2030,respectively;The frequencies of CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Chingpaw population were 0.000,0.1637,0.1770,respectively.Distributions of the CCR2b-64I,SDF1-3′A alleles among the both populations were in accordance with Hardy-Weinberg equilibrium.No statistical difference was found in the allelic frequencies of both CCR2b-64I and SDF1-3′A between male and female individuals.The frequencies of CCR5delta32,CCR2b-64I alleles in Chinese Dai and Chingpaw populations are similar to that in Chinese Han population,while the frequency of SDF1-3′A allele in Chinese Dai and Chingpaw populations are lower in contrast to that in Chinese Han population.The genotyping and polymorphism of CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Chinese Dai and Chingpaw populations of Yunnan Province are the first time studied in China.The significance of the three mutant alleles conferring genetic resistance to HIV-1 and AIDS progression remains to be clarified.     

中国傣族、景颇族人群中与艾滋病相关的CCR5△32、CCR2b-64I、SDF1-3′A等位基因多态性分布

为了调查HIV-1感染相关的等位基因CCR5△32、CCR2b-64I、SDF1-3′A在我国云南省德宏州傣族景颇族人群中的频率和多态性分布,此课题以101例傣族和113例景颇族人群为研究对象,应用PCR、PCR-RFLP(聚合酶链反应-限制性片段长度多态性)分析方法进行检测,计算突变基因频率;并对其群体分布、性别分布进行统计学分析。结果表明,中国傣族景颇族人群中未发现CCR5△32等位基因突变;傣族CCR2b-64I、SDF1-3′A基因突变频率分别为0.2130和0.2030,景颇族CCR2b-64I和SDF1-3′A基因突变频率分别为0.1637和0.1770;与中国汉族人群相比较,傣族和景颇族中SDF1-3′A突变频率较低（P值分别为0.0322和0.0021）;两个民族的CCR2b-64I和SDF1-3′A等位基因群体分布符合Hardy-Weinberg平衡,在性别之间分布无显著差异。中国傣族景颇族人群的CCR2b-64I等位基因的突变频率与汉族人相似,SDF1-3′A等位基因的突变频率比汉族人低,此两种突变基因在艾滋病发病过程中的影响值得进一步研究。由于未发现CCR5△32基因突变,中国傣族景颇族人群对HIV-1感染可能有较大的遗传易感性。 Abstract:The purpose of the work is to investigate the frequencies and polymorphisms of HIV-1 resistant CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Chinese Dai and Chingpaw populations.Whole blood samples from 101 Dai subjects and 113 Chingpaw were collected randomly and their genomic DNA were extracted with QIAgen Blood Kits.Allelic frequencies were identified by PCR-RFLP analysis.Allelic polymorphisms in Dai population or Chingpaw population and both sexes in the samples were analyzed by χ2 test.The frequencies of CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Dai population were 0.0000,0.2130,0.2030,respectively;The frequencies of CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Chingpaw population were 0.000,0.1637,0.1770,respectively.Distributions of the CCR2b-64I,SDF1-3′A alleles among the both populations were in accordance with Hardy-Weinberg equilibrium.No statistical difference was found in the allelic frequencies of both CCR2b-64I and SDF1-3′A between male and female individuals.The frequencies of CCR5delta32,CCR2b-64I alleles in Chinese Dai and Chingpaw populations are similar to that in Chinese Han population,while the frequency of SDF1-3′A allele in Chinese Dai and Chingpaw populations are lower in contrast to that in Chinese Han population.The genotyping and polymorphism of CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Chinese Dai and Chingpaw populations of Yunnan Province are the first time studied in China.The significance of the three mutant alleles conferring genetic resistance to HIV-1 and AIDS progression remains to be clarified.     

新疆蒙古族、锡伯族新生儿HbF中Gγ/Aγ、AγI/AγT比值测定及基因图谱分析

用HPLC法测定新疆蒙古族78例、锡伯族60例新生儿胎儿血红蛋白(HbF)中Gγ/Aγ以及AγI/AγT比值。%Gγ均值为:蒙古族73.99% ,锡伯族74.59%。%AγI均值分别为蒙古族56.04%和锡伯族64.33%。在蒙古族中发现AγT纯合体4例、杂合体12例;锡伯族中发现AγT杂合体6例。蒙古族中AγT基因频率(fAγT)为0.128,锡伯族为0.05。 Abstract: Gγ/Aγ、AγI/Aγ Ratios of fetal hemoglobin(HbF) in 138 cases of newborns of Megnol (n=78)and Sibo(n=60)ethnic groups in Urumuqi,Xinjiang were determined by HPLC.The means of % Gγ of Mongol and sibo ethnic groups were 73.99% and 7459% respectively.12 Aγ/T cases of heterozygotes in Mongol,6 in Sibo and 4 cases of AγT homozygotes in Mongol were found.The frequencies of AγT gene were 0.128 in Mongol and 0.05 in Sibo respectively.The means of AγT of Mongol and Sibo ethnic groups were 56.04% and 64.33% respectively.     

中国广东省四个民族C6别型遗传特点——附三个新的罕见变异型报道

应用等电聚焦-免疫印迹法调查了广东省四个民族(汉、苗、黎和回族)C6遗传多态性。广州地区汉族C6等位基因频率分别为:C6*A0.4225,C6*B0.5288,C6*B2 0.0387和C6*R(M91,M92,M11,B21)0.0100。海南岛三个少数民族C6遗传特点与广州汉族相似,均处于Hardy-Weinberg平衡状态。共发现五个罕见基因的杂合子,其中三个等位基因为首次报道。     

不同群体中ATXN2基因编码区CAG重复的变异研究

在中国6个生活环境差异较大的少数民族群体中进行ATXN2基因编码区CAG重复的变异研究,以衡量其是否受到正选择的作用以及寻找推动选择作用的因素。采集6个民族群体共291个健康无关个体,对其进行STR分型,直接计数其等位基因及等位基因型频率,计算其线性Fst值,构建针对该基因的系统进化树,并对各群体进行MDS分析。线性Fst值结果显示:回族和彝族群体间ATXN2基因STR位点进化的差异具有显著性,其他4个群体相互间无显著性差异。结合已报道的其他群体进一步分析,回族、哈尼族、云南蒙古族以及内蒙古自治区蒙古族每个人群都与日本人群有显著性差异;回族、内蒙古自治区蒙古族与汉族具有显著性差异。6个群体中ATXN2基因STR的等位基因频率有各自的分布特点,稀有等位基因频率变化产生的原因可能是选择作用的结果。     

新疆蒙古族、锡伯族新生儿HbF中~Gγ/~Aγ、~Aγ~I/~Aγ~T比值测定及基因图谱分析

用HPLC法测定新疆蒙古族78例、锡伯族60例新生儿胎儿血红蛋白（HbF）中Gγ／Aγ以及AγI／AγI比值。％Gγ均值为：蒙古族73.99％,锡伯族74.59％。％GγI均值分别为蒙古族56.04％和锡伯族64.33％。在蒙古族中发现AγT纯合体4例、杂合作12例;锡伯族中发现AγT杂合体6例。蒙古族中AγT基因频率（ρAγT）为0.128,锡伯族为0.05     

3个与艾滋病病程相关的基因的多态位点在中国不同地区人群中的分布研究

趋化因子受体基因CCR5 -Δ32 ,CCR2 -6 4I及配体基因SDF1- 3′A突变可推迟艾滋病的病程 .以 1 0 46份来自中国 2 6个省市的DNA样本为对象研究上述 3种多态位点在中国不同地区人群中的分布 ,发现在所观察的群体中没有CCR5- Δ32存在 ,CCR2 -6 4I的基因频度为 2 0 8% ,SDF1 -3′A的基因频度为 2 4 8% ,后两者在中国人群中出现相反的梯度分布 ,并进行了进一步的艾滋病相对风险 (relativehazard ,RH)估计 .对中国人艾滋病流行病学研究及了解这些基因多态位点在中国人群中的起源及扩散提供了重要信息     

中国云南25个少数民族Y染色体DYS287位点的地理多态性

对中国25个少数民族的33个群体共1294份样品进行了Y染色体DYS287 (YAP)位点的遗传多态性分析, 结果为: 普米族YAP + 频率为72.3%, 是至今报道东亚人群中的最高频率; YAP + 频率较高的有藏族(36.0%)、纳西族(37.5%和25.5%)、壮族(21.3%)、景颇族(12.5%)、苗族(11.8%)、傣族(11.4%, 10.0%, 3.3%和2.0%)、彝族(8.0%)、 云南白族(6.7%和6.0%), YAP+频率较低的有内蒙古的蒙古族 (4.3%)、 湖南土家族(2.6%)、瑶族(2.2%)、怒族(1.8%); 没有发现YAP+的云南民族有拉祜族、哈尼族、阿昌族、独龙族、傈僳族、水族、布依族、佤族、布朗族、德昂族、满族、回族、蒙古族以及湖南白族. 33个群体的YAP+平均频率为9.2%, 与已报道中国人群的频率相符. YAP+频率在民族间有较大的差异, 同一民族的不同群体也不相同, 表现出明显的地理分布差异. 结合民族学、历史学和考古学的相关证据, 探讨了中国民族尤其云南各个少数民族现存格局的形成和发展历史.     

CCR2-64Ⅰ在中国南方14个少数民族群体中的分布

为调查HIV-1感染相关等位基因CCR2-64Ⅰ在我国南方14个少数民族群体的频率和多态性分布, 从上述人群外周血中抽提基因组DNA, 采用PCR和PCR-RFLP等方法进行基因分型。在791例调查对象中, 636例是野生纯合子基因型, 104例为杂合子基因型, 51例为突变纯合子基因型。上述各群体等位基因型的分布符合Hardy-Weinberg平衡。14个民族群体的平均突变基因频率为13.6％, 等位基因频率范围分布在1.6％~30.3％之间, 14个民族群体之间突变基因频率具有显著差异(P<0.05)。广西壮族群体CCR2-64Ⅰ突变基因频率最低, 为1.6％, 云南的六库傈僳族频率最高, 为30.3％。12个群体的突变基因频率均低于中国汉族健康群体, 南方3个少数民族群体基因突变频率显著低于西南11个少数民族群体, 该突变基因在艾滋病发病过程中的影响值得进一步深入研究。     

Prevalence of alleles associated with HIV resistance in Russia

Genetic polymorphisms of CCR5, CCR2, and SDF1 genes have been associated with resistance during human immunodeficiency virus type 1 (HIV-1) infection and disease progression. In the present report, we studied the frequency and co-occurrence of CCR5Delta32, CCR5-59029A/G, CCR2-64I, and SDF1-3'A allelic variants among HIV-1-seronegative individuals (n = 171) in Moscow. Observed allelic frequencies were 0.0906 [95% confidence interval (CI), 0.06-0.1212] for CCR5Delta32, 0.4072 (95% CI, 0.3542-0.4602) for CCR5-59029G, 0.1061 (95% CI, 0.0728-0.1394) for CCR2-64I, and 0.2218 (95% CI 0.1715-0.2721) for SDF1-3'A. A significant linkage disequilibrium (p = 0.0034) between CCR2-64I and SDF1-3'A alleles was observed.     

中国不同人群的红细胞抗原多态性及血型组合

计算了汉、回、蒙古、维吾尔、侗、高山、朝鲜和壮等八个民族红细胞抗原常见等位基因数、常见血型和血型组合频率、血型相同的二人随机相遇的概率、血型组合数、常见和罕见的血型组合、AB、Rh(D-)型频率及排除亲子关系的概率。结果表明,中国北方民族的血型系统的多态程度比南方民族高。     

新疆伊犁五个少数民族的近亲结婚

1983年4月至1984年5月,对新疆伊犁哈萨克自治州五个民族的近亲结婚情况进行了调查。调查的婚姻数为维吾尔2553起,哈萨克1079起,回1235起,锡伯1222起,蒙古446起。近亲结婚率与平均近交系数分别为:维吾尔——8.23％与 46.74×10~(-4),回——8.10％与45.07×10~(-4),锡伯——4.66％与24.93×10~(-4),哈萨克——2.87％与11.31×10~(-4)。蒙古——0.45％与 2.80×10~(-4)。解放以来,维吾尔族与回族的近亲结婚率有上升趋势,而锡伯族的则有下降趋势。各族近亲结婚中大部分为亲表亲结婚,但堂亲结婚在维吾尔族的近亲结婚中竟占26.18％,在回族中也占16.00％。1303名近亲结婚子女中的七岁前死亡率(12.89％)及先天性缺陷与遗传性疾病发生率(2.99％)显著高于6370名非近亲结婚子女的相应值(7.65％及0.38％)。     

Distribution of Two HIV-1–Resistant Polymorphisms (SDF1-3′Aand CCR2-64I) in East Asian and World Populations and Its Implicationin AIDS Epidemiology

Chemokine receptor CCR2 and stromal-derived factor (SDF-1) are involved in HIV infection and AIDS symptom onset. Recent cohort studies showed that point mutations in these two genes, CCR2-64I and SDF1-3'A, can delay AIDS onset > or = 16 years after seroconversions. The protective effect of CCR2-64I is dominant, whereas that of SDF1-3'A is recessive. SDF1-3'A homozygotes also showed possible protection against HIV-1 infection. In this study, we surveyed the frequency distributions of the two alleles at both loci in world populations, with emphasis on those in east Asia. The CCR2-64I frequencies do not vary significantly in the different continents, having a range of 0.1-0.2 in most populations. A decreasing cline of the CCR2-64I frequency from north to south was observed in east Asia. In contrast, the distribution of SDF1-3'A in world populations varies substantially, and the highest frequency was observed in Oceanian populations. Moreover, an increasing cline of the SDF1-3'A frequency from north to south was observed in east Asia. The relative hazard values were computed to evaluate the risk of AIDS onset on the basis of two-locus genotypes in the east Asian and world populations.     

宁夏回族红细胞血型的研究

调查了219名宁夏回族的 ABO、MNSs、Rhesus、P、Lewis、Duffr、Kidd Diego 、Kell、Lutheran和Xg等11种系统的红细胞血型。结果表明,宁夏回族有较高的q(0.2530)、Fy~a(0.9270)、CDe(0.6225) 和E(0.2660) 等基因或染色体频率;d(0.0557)、s(0.0594)、P_1(0.1316)和 Le~a(0.3882)等基因频率较低;而未发现K和Lu~a基因;Di~a的频率为0.0349,也处于低水平;Ns(0.4984)连锁率高于 Ms(0.4422);Xg~a基因频率为0.4432。11个系统的红细胞血型的分布和遗传距离分析均反映了宁夏回族的遗传组成具有我国北方民族的特征,尤其接近于北方汉族和蒙古族,与新疆维吾尔族则存在较大的差异。     

An Analysis of HLA-A, -B,and -DRB1 Allele and Haplotype Frequencies of 21,918 Residents Living in Liaoning,China

HLA-A, -B and -DRB1 allele frequencies and their haplotype frequencies in 21,918 Chinese residents living in Liaoning Province, who were registered as volunteer donors of China Marrow Donor Registry, were investigated. They are composed of 93.37% Han Chinese, 5.1% Manchus, 0.57% Mongols, 0.46% Hui persons, 0.29% Koreans and 0.14% Xibe ethnic group. In total eighteen different HLA-A alleles, forty-eight different HLA-B alleles and fourteen different HLA-DRB1 alleles have been identified. Their frequencies are in agreement with the Hardy-Weinberg equilibrium. For Han Chinese in Liaoning, 1,534 different HLA-A-B-DRB1 haplotypes were identified, with a frequency of higher than 0.01%. A*30-B*13-DRB1*07, A*02-B*46-DRB1*09 and A*02-B*13-DRB1*12 are the most frequent haplotypes among Liaoning Han. While Liaoning Han, Liaoning Manchu, Liaoning Mongol, Liaoning Hui and Liaoning Korean share the northern Han characteristic haplotypes, all minority ethnic groups with the exception of Liaoning Manchu have developed their own unique HLA profiles. This dataset characterizes the HLA allele and haplotype frequencies in the Liaoning area and suggests that it is different from those in other parts of China and ethnic groups, which implicates transplant donor searching strategies and studies on population genetics.     

CCR5delta32, CCR2-64I, and SDF1-3'A polymorphisms related to resistance to HIV-1 infection and disease in the Ecuadorian population

The aim of this study was to determine the allele frequencies of genetic variants CCR5delta32, CCR2-64I, and SDF1-3'A (SDF1 801 A), which influence susceptibility to HIV-1 infection. We also investigated the effect of these variants on the general Ecuadoran population and on a group of HIV-infected individuals to determine the frequency of these genetics variants.