中国汉族人群间-α-胰蛋白酶抑制因子(ITI)的遗传多态性

我们建立了测定间-α-胰蛋白酶抑制因子遗传表型的聚丙烯酰胺凝胶等电聚焦免疫固定技术,应用这种方法对居住在成都地区的汉族群体进行了群体研究和家系调查,结果表明中国汉族人群间-α-胰蛋白酶抑制因子具有遗传多态性,它有希望成为法医血液遗传学新的遗传标记。     

Genetic polymorphisms of alpha-2-HS-glycoprotein, group-specific component and orosomucoid in the Han population, Chengdu, China.

The Han population in Chengdu, China, was investigated for genetic polymorphisms of alpha-2-HS-glycoprotein (A2HS), group-specific component (GC) and orosomucoid (ORM) using isoelectric focusing followed by immunofixation. The allele frequencies were: A2HS*1 = 0.6958,A2HS*2 = 0.3042, GC*1F = 0.4021, GC*1S = 0.3182, GC*2 = 0.2745, GC*1A = 0.0052, ORM1*F1 = 0.7028, ORM1*S = 0.2762, ORM1*F2 = 0.0210, ORM2*A = 0.9965, ORM2*Var = 0.0035.     

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.     

五个汉族群体C7的遗传多态性

在国内首次用等电聚焦和酶连免疫标记方法调查哈尔滨、西安、成都、贵阳、漳州等五个汉族群体的补体第七成分(C7)的遗传多态性。结果表明,C7*1基因频率最高,在0.8152至0.9144之间。C7*2频率在四个亚群中为0.0528至0.0849,但在贵阳人群中高达0.1527,是目前世界上已观察到的最高值。C7*4频率在五个亚群中无显著差异,在0.0180至0.0402之间。没有观察到C7*4有由北方人群扩散到南方的明显趋势。在南方的三个汉族亚群中观察到在高加索人和日本人群中存在的C7*3基因。     

汉族9个人群AcP_1、EsD及6-PGD的遗传多态性

用淀粉凝胶电泳法对我国汉族９个人群的红细胞酸性磷酸酶（ＡｃＰ１）、酯酶Ｄ（ＥｓＤ）、及６－磷酸葡萄糖酸脱氢酶（６－ＰＧＤ）的遗传多态性进行了研究。研究结果表明：兰州、呼和浩特、哈尔滨、西安、郑州、成都、贵阳、漳州、梅州等９市汉族人群的ＡｃＰＢ１基因频率依次为０．７９２９、０．８１６７、０．７９３８、０．８１３１、０．８０８８、０．８００５、０．７８９６、０．７７９４和０．７６７５;ＥｓＤ１基因频率依次为０．６４７３、０．６１４８、０．６４４３、０．６４３９、０．６４７５、０．６３０５、０．６２８７、０．５９０７和０．５８２５;６－ＰＧＯＡ基因频率依次为０．８８８１、０．９１４３、０．９３３０、０．９３１８、０．８７５６、０．９２１２、０．９１８８、０．９４６１和０．９３７５。ＥｓＤ１基因频率在中国南、北方人群间有差异,北方人群的ＥｓＤ１频率高于南方人群,随着北纬纬度由高向低,汉族人群ＥｓＤ１频率也随着从北向南降低。在中国汉族人群中,ＥｓＤ基因及６－ＰＧＤ基因分化比较显著,而ＡｃＰ基因分化则不显著     

中国北方汉族人群肌型肌酸激酶基因（CKMM）A/G多态研究

为研究中国汉族群体CKMM基因NcoI 酶切位点的遗传多态性以及该位点的具体多态形式, 采用PCR-RFLP技术, 对306例无血缘关系的健康中国北方汉人的染色体进行检测,并对3种基因型的扩增产物进行基因测序。用卡方检验对所得等位基因频率、基因型频率与其他种族进行比较。结果NcoI 位点多态性测序结果为：A/G颠换; 等位基因频率是A=86%,G=14%;基因型频率为：A/A=74%, A/G=24% , G/G=2%;经卡方检验符合Hardy－Weinberg遗传平衡定律;认为中国汉族群体CKMM 基因NcoI酶切位点具有遗传多态性。其基因型频率和等位基因频率在男女间没有显著性差异,与欧美人群相比有极显著差异,而与韩国人相比没有显著性差异。     

茶洞话群体的Y染色体遗传结构及其父系起源研究

我国广西的桂东北地区大约有20,000人使用茶洞话,该群体的族源问题一直存在争议。本文为调查茶洞话群体的Y染色体遗传结构,探讨其父系起源,对临桂县使用茶洞话的21名无关男性个体的Y-STR和Y-SNP进行了检测分型,并对该群体与周边民族的遗传关系进行了研究分析。结果显示:茶洞话群体的17个Y-STR位点具有丰富的遗传多态性,适用于群体遗传学和法医学研究;Y染色体高频单倍群为O2*-P31和O2a1*-M95,表明茶洞话群体具有显著的百越民族系统侗傣族群的遗传背景;N-J树和主成分分析显示茶洞话群体与仫佬族的父系遗传关系较之与毛南族和汉族更亲近。本研究结果为茶洞话群体的族源研究提供了遗传学证据。     

我国瑶、汉、壮、苗、维五个民族补体成份B因子多态性的调查报告

用琼脂糖凝胶高压电泳及免疫固定技术对我国瑶、汉、壮、苗、维五个民族人群的补体B因子(Bf)的多态性进行了检测,结果显示,这五个民族的Bf基因频率均以s型最高,但参差不齐。从高到低的顺序是瑶0.9071,汉0.8727,壮0.8426,苗0.7667,维0.6622。BfF基因频率其次,但也高低不一,从高到低的顺序是维0.2680,苗0.2000,壮0.1343,汉0.1159,瑶0.0929。频率居第三位的是BfSO7,差别显著,维0.0586,苗0.0333,壮0.0232,汉0.0091,瑶0.0000。在罕见型方面,220例份汉族人中发现一例SO45杂合子,222例份维族中检出4例FO65及1例F1杂合子。本文结合我国其他民族及全球大量检测数据进行了一些对比讨论。     

DXS6804/DXS9896/GATA144D04基因座在中国汉族群体中的遗传多态性及其法医学应用Genetic

为了调查X染色体上DXS6804、DXS9896和 GATA144D04等3个STR基因座在中国汉族群体的遗传多态性及其法医学应用价值,来用PCR和聚丙烯酰胺凝胶电泳对X染色体3个STR基因座进行分型,并检验女性基因型频率分布是否符合Hardy-Weinberg平衡,计算法医学常用各种概率。DXS6804、DXS9896和 GATA144D04的非父排除率分别为0.5990、0.6220、0.4280,表明3个STR基因座在中国汉族群体均具有遗传多态性,χ2检验表明女性的基因型频率分布符合Hardy-Weinberg平衡。X染色体上的基因座DXS6804、DXS9896和 GATA144D04在中国汉族群体中具有较高的遗传多态性,可应用于法医学检验和群体遗传学分析。 Abstract： To investigate the genetic polymorphisms of three short tandem repeats loci of chromosome X in Chinese Han population in Chengdu area and its use in forensic science. Three X-chromosome linked short tandom repeat loci were analyzed by PCR followed by polyacrylamide gel electrophoresis. Hardy-Weinberg equilibrium was tested and forensic interested value was calculated .The power of exlcution of DXS6804、DXS9896和 GATA144D04 is 0.5990、0.6220、0.4280,respectively. The result showed that all the three STR loci were polymorphic among 100 unrelated females and 120 unrelated males from Chinese Han population. χ2 tests demonstrated that genotype frequencies in females did not depart from Hardy-Weinberg equilibrium. Three X-chromosome linked short tandem repeat loci have high polymorphism, they can be applied to forensic medicine and population genetics.     

补体第六成分（C6）在汉族5个群体中的多态分布

用聚丙烯酰胺等电聚焦技术和免疫酶标法,调查分析了汉族5个群体补体第六成分(C6)的遗传多态性,得出基因频率如下。郑州汉族:C6*A 0.4521、C6*B 0.5228、C6*B_2 0.0183、和C6*R 0.0068。兰州汉族:C6*A 0.4612、C6*B 0.5218和C6*B_2 0.0170。呼和浩特汉族:C6*A 0.4452、C6*B 0.5286、C6*B_2 0.0214和C6*R 0.0048。西安汉族:C6*A 0.4899、C6*B 0.4874、C6*B_2 0.0126和C6*R 0.0101。广东梅州客家人:C6*A 0.4569、C6*B 0.5152和C6*B_2 0.0279。C6*R为罕见等位基因之频率。     

中国北方汉族人群sTnT基因单核苷酸多态性分析

目的：研究中国北方汉族人群sTnT基因的单核苷酸多态性（SNP）,观察其在北方汉族人群中的分布。方法：用PCR-RFLP的方法对204名中国北方汉族人群sTnT基因的SNP进行分析,确定其等位基因频率。结果：美国国立生物技术信息中心报告的外显子11上的27916722 A／C未在本项研究人群中检测到。27930097 C／G和的27920978 C／F的等位基因频率与美国国立生物技术信息中心（NCBI）报道均有显著性差异。结论：sTnT基因SNP分布具有种族差异性。     

洛阳市汉族群体ADH2和ALDH2的基因多态性研究

为研究洛阳市汉族群体ADH2和ALDH2基因的多态性分布,应用聚合酶链反应-扩增片段长度多态性（PCR-APLP）分析法,对ADH2基因外显子3和ALDH2基因外显子12的特定片段同时进行特异性扩增,用非变性的聚丙烯酰胺垂直凝胶电泳和DNA银染方法判定基因型。ADH2*1和ADH2*2等位基因频率分别为42.86%和57.14%,ADH2*1/*1、*1/*2和*2/*2的基因型频率分别为22.86%、40.00%和37.14%;ALDH2*1和ALDH2*2的等位基因频率分别为85.24%和14.76%,ALDH2*1/*1、*1/*2和*2/*2的基因型频率分别为71.43%、27.62%和0.95%。洛阳市汉族群体ADH2和ALDH2的等位基因频率和基因型频率不同于台湾人和上海人,ALDH2*1/*1基因型频率明显高于上海人和台湾人的。因而,洛阳市居民对酒精的耐受性比上海人和台湾人强。 Studies of Genetic Polymorphisms of ADH2 and ALDH2 among the Han Population in Luoyang China ZHANG Zhu-mei1,LIU Cha-zhen1,BIAN Jian-chao1,TANG Bo-ming2,JIANG Feng1,WANG Qi-jun2,WANG Qi-min2,ZHU Xin2,SHEN Fu-min1 1.Department of Epidemiology,Public Health School of Fudan University,Shanghai 200032,China; 2.Section Office of Epidemiology,Luoyang Hygiene and Anti-epidemic Center,Luoyang 471000,China Abstract:In order to investigate genetic polymorphisms of ADH2 and ALDH2 among the Han population in Luoyang City,portions of exon 3 of ADH2 and exon 12 of ALDH gene were amplified by using polymerase chain reaction.The amplified products were electrophoresed on 10% undenatured vertical polyacrylamide gels and stained with argentine.Frequencies of ADH2*1 and ADH2*2 alleles are 42.86% and 57.14%.Frequencies of three genotypes of ADH2 are 22.86%、40.00% and 37.14%,respectively.Frequencies of ALDH2*1 and ALDH2*2 alleles are 85.24% and 14.76%.Genotype frequencies of ALDH2 loci are 71.43%、27.62% and 0.95%,respectively.Genetic polymorphisms of ADH2 and ALDH2 among the Han population in Luoyang City are different from those among Taiwanese and Shanghainese.Frequency of ALDH2*1/*1 in Luoyang people is higher than those in Shanghai and Taiwan.Therefore,there is a higher resistance to alcohol drinking in the Han population in Luoyang. Key words：polymerase chain reaction-amplified products length polymorphism; alcohol dehydrogenase 2; aldehyde dehydrogenase 2; genetic     

应用SSP-PCR/SSO方法进行中国辽宁汉族人HLA-DRB1基因的遗传多态性研究

对１５９名中国辽宁汉族个体的基因组ＤＮＡ进行分析,共检出４２种等位基因,其中以ＤＲＢ１０９０１２（１２．８％）、０７０１（１０．７％）、１５０１（１０．４％）最为常见,其次为ＤＲＢ１１２０１（７９％）、１２０２（７５％）、１１０１（６６％）、０３０１（５．０％）。并发现辽宁汉族人ＤＲＢ１等位基因频率与白种人间存在明显差异,揭示不同人种有其自己的主要等位基因。同时对本技术在ＨＬＡ－ＤＲＢ１分型应用中的优点进行了讨论     

Genetic polymorphism of group-specific component/vitamin-D-binding protein subtypes in six populations from north-eastern China

On six populations from North-Eastern China the frequencies of Gc subtypes were studied by isoelectric focusing on ultra-thin polyacrylamidegel followed by the improved sulfosalicylic acid precipitation. The following Gc subtype allele frequencies could be observed in the Han (Harbin), Ewenki, Tahur, Mongolian, Oroquen and Xibe populations: Gc*1F = 0.4246, 0.4941, 0.4479, 0.4077, 0.4606 and 0.4503; Gc*1S = 0.2587, 0.2936, 0.3151, 0.2822, 0.3370 and 0.3035; Gc*2 = 0.3065, 0.2064, 0.2266, 0.3006, 0.2022 and 0.2388. In addition to this 16 individuals of five populations showed rare Gc variant alleles (1A3, 1A8, 1A9, 1A14, 1C?).     

五个汉族及三个少数民族人群的腺苷脱氨酶分布

用淀粉胶电泳及特异性酶染色方法测定了五个汉族及三个少数民族人群的红细胞腺苷脱氨酶(ADA)分布。ADA~2基因频率分别为:成都汉族0.0492,漳州汉族0.0240,哈尔滨汉族0.0386,贵阳汉族0.0343,西安汉族0.0302,布依族0.0584,瑶族0.0190,哈尼族0.0136。南方人群的ADA~2基因频率一般低于北方人。未发现罕见变异型。     

九个汉族群体和四个少数民族群体中腺苷酸激酶的遗传多态性

用淀粉凝胶电泳及特异的染色方法,调查了我国九个汉族和四个少数民族群体的腺苷酸激酶-1(AK1)的遗传多态性在这十三个群体中AK1*2频率都远低于AK1*1频率,未达到0.01的多态水平,分别为：兰州汉族0.0096,郑州汉族0.0023,呼和浩特汉族0.0024,西安汉族0.0025,漳州汉族0.0024,羌族0.0024;而在广东客家人、成都汉族、哈尔滨汉族、贵阳汉族以及哈尼族、瑶族、布依族中均为0。在兰州汉族群体中观察到国内第一例AK1*2-2表型。     

Serum protein polymorphisms in Arab Moslems and Druze of Israel: BF, F13B, AHSG, GC, PLG, PI, and TF.

We report results of typing two population samples, Israeli Arab Moslems and Arab Druze, for seven serum protein genetic variants. Data are presented in comparison with results for the same markers in a sample of Jordanian Arabs. In Israeli Moslems gene frequencies for BF (n = 169) were BF*S = 0.6361, BF*F = 0.3343, BF*S07 = 0.0296, and BF*1 = 0, and for TF (n = 90) the gene frequencies were: TF*C1 = 0.7167, TF*C2 = 0.2611, and TF*C3 = 0.0222. Allele frequencies for AHSG in Israeli Moslems (n = 155) and Druze (n = 192) were AHSG*1 = 0.9129 and 0.8750 and AHSG*2 = 0.0806 and 0.1250, respectively. Gene frequencies for PLG in Moslems (n = 149) and Druze (n = 190) were PLG*A = 0.4597 and 0.5288 and PLG*B = 0.5101 and 0.4188, respectively. The typing of Israeli Arab Druze (n = 194) for F13B resulted in F13B*1 = 0.8454, F13B*2 = 0.0387, F13B*3 = 0.0979, and F13B*4 = 0.0180. Results on the same population for PI (n = 192) were PI*M1 = 0.7839, PI*M2 = 0.1276, PI*M3 = 0.0781, PI*M4 = 0.0026, and PI*M5 = 0.0026. Observed rare alleles in various systems indicate gene flow from Europe, Africa, and Asia into the Middle East. The results on Arab populations were considered in relation to available population data in the three adjacent continents. The emerging gene frequency profile for Arabs seems to fit with the central geographic and climatic position of the Middle East.     

HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people

Human leukocyte antigen (HLA) system is the most polymorphic region known in the human genome. In the present study, we analyzed for the first time the HLA-A gene polymorphisms defined by the high-resolution typing methods-sequence-based typing (SBT) in 161 Northern Chinese Han people. A total of 74 different HLA-A gene types and 36 alleles were detected. The most frequent alleles were A*110101 (GF=0.2360), A*24020101 (GF=0.1646), and A*020101 (GF=0.1553); followed by A*3303 (GF=0.1180), A*3001 (GF=0.0590),     

Genetic link between Chaoshan and other Chinese Han populations: Evidence from HLA-A and HLA-B allele frequency distribution

The genetic polymorphism of HLA-A and HLA-B loci was investigated in 505 Chaoshanese using PCR-SSP method. Among the HLA-A alleles detected, A*11 (35.64%) was most frequent, followed by A*02 (31.78%). Of 34 HLA-B alleles tested, 30 were observed, in which B*60 (21.68%), B*46 (14.46%), and B*58 (10.69%) were highly predominant. Comparison was made with other nine Chinese Han ethnic groups covering the Mainland China, Taiwan, Hong Kong, and Singapore. The high frequent alleles found in Chaoshanese were also common in other Chinese groups compared though the frequency levels varied from group to group. The phylogenic tree analysis based on the HLA-A and -B allele frequencies of all the 10 Chinese ethnic groups revealed that Chaoshanese, while clustering in general with the southern China-related Han Chinese, had the highest affinity to the Mainland Minnanese, but separated distinctively from the northern Han Chinese. The study, however, was yet to confirm the hypothesis of the Central Plains Han origin of Chaoshanese. Interestingly, the alleles (B*46, B*38, and B*58) and the related haplotypes (A*02-B*46 and A*33-B*58) that are positively associated with nasopharyngeal carcinoma (NPC), a disease prevailing predominantly among southern Chinese, were always at much higher frequencies among southern Chinese than among northern Chinese, whereas A*31 and B*13, the two alleles with highly protective effects for NPC, and the associated haplotype A*30-B*13 were predominantly high in northern Chinese. The different genetic background between northern and southern China may explain, at least partially, the prevalence of NPC among southern Chinese.