中国不同民族人群中PrP蛋白基因第129位氨基酸多态性分析

目的 研究人类PrP基因（PRNP）第129位氨基酸多态性在中国汉族及维吾尔族人群中的分布。方法 从抽样人群外周血中提取白细胞DNA，进行聚合酶链反应－限制性片段长度多态性分析（PCR－RFLP），使用SAS for Windows 6.12对结果进行分析。结果 83例汉族人群129 Met基因频率为97．0％，129 Val为3．0％；35例维吾尔族人群129 Met基因频率为91．4％，129 Val为8．6％。分别比较不同人群PRNP第129位氨基酸基因型的分布情况，结果显示汉族人群和维吾尔族人群（P＝0．0490）、汉族人群和高加索人群（P＝0．0005）、维吾尔族人群和高加索人群间（P＝0．0010）差异有显著性，而汉族人群与大和民族人群间差异无显著性（P＝0．5040）。结论 中国汉族人群PRNP第129位氨基酸基因型的分布与大和民族人群相似，但与维吾尔族人群有差异。     

新疆维吾尔族人群ABO基因多态性的研究

目的研究中国新疆维吾尔族人群ABO基因多态性分布。方法对新疆维吾尔族随机群体160人份血样进行DNA抽提,采用聚合酶链反应-序列特异性引物方法对ABO血型定型,疑难的ABO基因采用直接序列测定。结果160人中检出A101、A102、A201、A205、B01、O016种等位基因,其基因频率分别为0.2062、0.0563、0.0156、0.0031、0.1875、0.5312。结论阐明中国新疆维吾尔族人群的ABO基因结构的特点,提示中国维吾尔族人群与汉族人群间遗传多态性存在着较大程度的区别,既具有差异性又具有融合性。     

凝血因子V169G→A基因突变的研究分析

目的 研究分析中国新疆地区健康人群中FV1691G→A基因突变的发生率。方法 凝血因子V(coagulation factor V)在凝血过程中是一种重要的辅因子,其基因中一个点突变1691G→A,使它对抗凝血系统中的一种血浆蛋白质C(APC)的失活作用而产生抗性,从而使血栓发生风险增大。应用多聚酶链反应-限制性片段长度多态性分析(PCR-RFLP),对新疆地区98例汉族、67例维吾尔族和54例哈萨克族健康个体进行研究分析。结果 哈萨克族人群中检出2例FV Leiden 1691G→A突变杂合子;汉族和维吾尔族人群中均未发现该突变类型。结论 中国新疆地区哈萨克族人群中存在FV Leiden基因突变,而汉族和维吾尔族人群中未检测到该类型突变,FV Leiden的发生存在着地区、种族差异,FV Leiden突变可能不是新疆地区人群静脉血栓(VT)发病的主要危险因素。     

NRAMP1基因3'UTR多态性与新疆维吾尔族人群结核病易感性的相关性研究

目的 研究人类自然抵抗相关巨噬细胞蛋白1(NRAMP1)基因3'UTR多态性与新疆维吾尔族人群结核病易感性的相关性.方法 选取新疆维吾尔族人群活动性结核病患者224例,正常对照225例,用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法对NRAMP1基因3'UTR进行基因分型,根据基因型对样本分组,经统计学处理,研究NRAMP1基因3'UTR多态性与结核病易感性的相关性.结果 在新疆维吾尔族人群活动性结核病患者中3'UTR TGTG/TGTG基因型159例(71.1%),TGTG/TGTG缺失基因型56例(24.9%),TGTG缺失/TGTG缺失基因型9例(4.0%);正常对照TGTG/TGTG基因型则为185例(82.2%),TGTG/TGTG缺失基因型36例(16.0%),TGTG缺失/TGTG缺失基因型4例(1.8%).正常对照组TGTG/TGTG基因型频率明显高于结核患者(X2=7.94,P<0.01).研究发现TGTG的等位基因频率为0.87,TGTG缺失的等位基因频率为0.13.结论 在新疆维吾尔族人群中NRAMP1基因3'UTR多态性与结核病易感性有明显相关性.     

中国新疆汉族和维吾尔族Rh阴性表型的分布特征研究

目的 对比研究新疆汉族和维吾尔族Rh阴性表型的分布特征.方法 选取新疆医科大学第一附属医院住院治疗的Rh阴性患者样本,其中汉族有效样本91例和维吾尔族有效样本231例.分别采用Anti-C、Anti-c、Anti-E、Anti-e单克隆抗体鉴定Rh阴性表型,及采用人类红细胞RhD基因分型试剂盒(筛查型)(PCR-SSP法)测定Rh阴性的基因分型.结果 新疆汉族和维吾尔族Rh阴性人群中以ccee表型最为常见,且维吾尔族ccee表型频率高于汉族(P<0.05).在RhC/c表型分布上,两族均大部分为cc表型,维吾尔族人群cc表型频率高于汉族,Cc表型频率低于汉族(P<0.05).在RhE/e表型分布上,两族均大部分为ee表型,而维吾尔族人群ee表型频率高于汉族,Ee表型频率低于汉族(P<0.05),均存在统计学差异.在Rh阴性的基因分布上,两族均以d/d最为多见,维吾尔族d/d远远高于汉族(90.58 %比45.05 %),而汉族的DEL型高于维吾尔族(19.78 %比1.35 %),两组比较(P<0.05),差异具有统计学意义.结论 新疆维吾尔族人群Rh阴性表型分布特征与汉族人群相比既有相似之处,又有其自身分布特点,可为后续的血型遗传学及血型基因进化研究提供参考,临床RhD抗体导致的新生儿溶血病的防治提供参考依据.     

新疆汉族和维吾尔族健康人群VKORC1启动子区基因多态性研究

目的了解VKORC1—1639A／G基因多态性在新疆汉族和维吾尔健康人群中的分布及其与国外其他不同民族之间的差异。方法采用PCR—RFLP技术对205名汉族和204名维吾尔族乌鲁木齐地区体检健康者VKORC1—1639A／G基因多态性进行检测，计算其基因型和等位基因频率，并与国外多个民族VKORC1—1639A／G基因多态性分布进行比较。结果新疆汉族和维吾尔族健康人群中共检测到2种等位基因：A和G。汉族A和G等位基因频率分别为87％和13％，维吾尔族A和G等位基冈频率分别为62％和38％。新疆汉族和维吾尔族健康人群VKORC1—1639A／G基因多态性共检测到3种基因型，新疆汉族健康人群以AA基因型常见，基因型频率74％。其次是AG基因型，基因型频率分别为26％。GG基因型的个体仅检测到1例，基因型频率小于1。新疆维吾尔族健康人群以AG基因型常见，基因型频率58％。其次是AA基因型，基因型频率分别为33％。GG基因型频率为9％。结论新疆汉族VKORC1—1639A／G基因多态性以AA基因型为主。维吾尔族VKORC1—1639A／G基因多态性以AG基因型为主，新疆汉族VKORC1—1639A／G基因多态性分布与维吾尔族人群和欧美人群存在较大差异。新疆维吾尔族人群VKORC1—1639A／G基因多态性分布与欧关人群接近。     

HLA-DQB1基因多态性与新疆维吾尔族人群结核病易感性的相关性研究

目的:探讨人类白细胞抗原(HLA)-DQB1基因多态性与新疆维吾尔族人群结核病易感性的关联.方法:采用病例一对照的研究方法,应用聚合酶链反应一序列特异性引物(PCR-SSP)技术对226例新疆维吾尔族肺结核病患者(肺结核病例组)和231例新疆维吾尔族健康对照者(健康对照组)进行HLA-DQB1基因分型,比较其等位基因频率(GF),并计算其比值比(OR).结果:肺结核病例组中HLA-DQB1*0201基因频率显著高于健康对照组,两组的GF分别为40.13%、19.15%,差异有统计学意义(P<0.05);肺结核病例组中HLA-DQB1*0301/4基因频率显著低于健康对照组,两组的GF分别为6.16%、10.27%,但P值经过校正后无显著性差异(P0.05).结论:HLA-DQB1*0201等位基因与新疆维吾尔族人群结核病强相关,DQB1*0201可能是其易感基因.     

新疆乌鲁木齐市与喀什市维吾尔族和汉族居民MMPI测试

目的:在新疆乌鲁木齐市(简称乌市)与喀什市两地选取维汉人群完成人格测评,初步探索社会发展与人群人格特点分布变化的关系。方法:采用明尼苏达多相人格量表对维吾尔族、汉族普通人群进行测试,有效问卷585份,乌市地区295人[维吾尔族160人,汉族135人;平均年龄(38±10)岁];喀什地区290人[维吾尔族165人,汉族125人;平均年龄(35±9)岁]。结果:乌市地区维汉人群F、Pd、Sc、Ma、Pa等量表分均高于喀什地区(P0.05或P0.001);乌市与喀什地区维吾尔族人群的D分均高于汉族(P0.01或P0.001),而汉族人群的Pd分均高于维吾尔族(P0.05或P0.001)。结论:本研究提示社会发展对人群人格特点可能存在塑造作用,但这一结论需进一步数据来佐证。     

中国新疆维吾尔族、云南彝族KIR多态性分析

分析中国新疆维吾尔族、云南彝族健康人群的KIR基因多态性及单倍型特点。采用序列特异性引物PCR方法(PCR-sequencespecificprimer,PCR-SSP)对维吾尔族、彝族人群基因多态性进行低分辨率检测和单倍型分析。维吾尔族中共检出15种基因型,以AH(5,2)型最常见,频率为22.7%,其次为AF(1,2)和M(2,8),频率分别为13.7%,9.09%。在彝族中共检出19种基因型,以AJ(2,2)型最常见,频率为33.3%,其次为AF(1,2),频率为17.5%。此外,在维吾尔族、彝族中共发现8种新基因型,提示中国少数民族有着自己独特的KIR基因分布频率、单倍型频率和基因型频率。     

新疆地区汉族及维吾尔族居民巯嘌呤甲基转移酶基因多态性研究

目的 研究新疆地区巯嘌呤甲基转移酶基因型分布及新疆地区汉族与维吾尔族基因突变频率的差异.方法 采用等位基因特异性的聚合酶链反应(allele specific-PCR,AS-PCR)方法和聚合酶链反应-限制性片段长度多态性(PCR-restrition fragment length polymophism,PCR-RFLP)方法检测新疆地区健康人群4种常见TPMT突变等位基因TPMT*2(G238C) 、TPMT* 3A (A719G/G460A)、TPMT*3B(G460A)和TPMT* 3C(A719G)进行检测.结果 192名新疆地区人群中发现8例TPMT*3C(A719G)杂合子,其中汉族5人,维吾尔族3人,没有发现TPMT*2、TPMT*3A、TPMT*3B.新疆地区人群中杂合子TPMT*3C的基因突变频率为2.08％.结论 TPMT*3C是新疆地区主要的突变类型,其等位基因频率2.08％;新疆地区汉族和维吾尔族人群中TPMT等位基因的频率差异无统计学意义.     

Copy number variations and genetic admixtures in three Xinjiang ethnic minority groups

Xinjiang is geographically located in central Asia, and it has played an important historical role in connecting eastern Eurasian (EEA) and western Eurasian (WEA) people. However, human population genomic studies in this region have been largely underrepresented, especially with respect to studies of copy number variations (CNVs). Here we constructed the first CNV map of the three major ethnic minority groups, the Uyghur, Kazakh and Kirgiz, using Affymetrix Genome-Wide Human SNP Array 6.0. We systematically compared the properties of CNVs we identified in the three groups with the data from representatives of EEA and WEA. The analyses indicated a typical genetic admixture pattern in all three groups with ancestries from both EEA and WEA. We also identified several CNV regions showing significant deviation of allele frequency from the expected genome-wide distribution, which might be associated with population-specific phenotypes. Our study provides the first genome-wide perspective on the CNVs of three major Xinjiang ethnic minority groups and has implications for both evolutionary and medical studies.     

HBV/D1: a major HBV subgenotype circulating in Uyghur patients with chronic HBV infection in Xinjiang, China

Each hepatitis B virus (HBV) genotype and subgenotype is associated with a particular geographic distribution, ethnicity, and anthropological history. The present study investigated the genomic characteristics of HBV from Uyghur patients with chronic HBV infection in Xinjiang, China. Among the 53 Uyghur patients enrolled, HBV/D was found to be the dominant strain, with 64.2 % (34/53), 60.4 % (32/53) with HBV/D1 and 3.8 % (2/53) with HBV/D3. In addition to these findings, 3.8 % HBV/B (2/53), 5.7 % HBV/C (3/53), 11.3 % C+D (6/53), 7.5 % B+D (4/53), 3.8 % B+C (2/53) and 3.8 % B+C+D (2/53) were also detected. The full-length genome of seven HBV/D1 isolates and 144 reference sequences retrieved from GenBank were compared and analyzed by biological information methods. These results demonstrate that the D1 isolates from Xinjiang and Central Asia show a close genetic proximity (0.013±0.0007). Furthermore, four unique amino acid substitutions (sp82(Asn), sp89(His), rt129(Leu), rt151(Leu)) representing background polymorphisms rather than drug resistance mutations or immune escape variants were found in the Uyghur patients of Xinjiang, but these were seldom found in HBV/D1 strains from other regions (0 %-14.3 %). This study indicates that in Xinjiang, unlike HBV-infected Han patients, HBV/D1 is the predominant strain among HBV-infected Uyghur people. Although genetic distance analysis suggests that the HBV/D1 isolates from Xinjiang are closely related to those from Central Asia, unique amino acid substitutions suggest independent evolution of HBV in the Uyghur patients of Xinjiang.     

中国新疆维吾尔族人群MNS、Duffy和Kell等稀有血型的基因分子遗传分析

BACKGROUND: Screening of fare blood types has been successively implemented and completed in Europe, America and Japan, but there is a large gap in China. Previous studies have mainly focused on the southern Han populations, and little is reported on PCR-SSP systematic analysis of gene frequencies of rare blood groups in Xinjiang Uygur populations. OBJECTIVE: To investigate the gene frequency distribution of RBC MNS, Duffy, Kell, Dombrock, Diego, Kidd, Scianna, Colton and Lutheran blood groups from Xinjiang Uygur populations, thereby providing a strategic support for human population genetics and clinical blood deployment. METHODS: PCR-SSP method was used to make genotyping and statistical analysis in 158 Xinjiang Uygur persons from nine rare blood groups. RESULTS AND CONCLUSION: Gene frequencies of these nine rare blood groups were M=0.579 1, N=0.420 9, S=0.174 3, s=0.800 9, Fya=0.699 4, Fyb=0.300 6, K1=0.015 8, K2=0.984 2, Doa=0.234 2, Dob=0.765 8, Dia=0.047 4, Dib=0.952 6, JKa=0.541 2, JKb=0.452 6, Sc1=1.000, Sc2=0, Coa=0.994, Cob=0.005 9, Lua=0, Lub=1.000, Aua=0.810 2, Aub=0.189 9. Results from chi-square test showed that the observed value and expected value of genotypes were in line with the law of Hardy-Weinberg equilibrium (P > 0.05), and in the MNS blood group of Xinjiang Uygur population, it was rarely found that S-s- frequency was 0.025 3 in four cases and Jka-b- frequency was 0.006 3 in one case. This study demonstrates that the frequency distribution of MNS, Duffy, Dombrock and Diego blood groups in the Xinjiang Uygur population, with its own unique frequency distribution characteristics, is different from that in other ethnic populations; the gene distribution of Kell, Kidd and Colton blood groups shows either similarity or difference between the Xinjiang Uygur population and reported Tibet and Han populations; Scianna and Lutheran blood groups show a monomorphic distribution in the Xinjiang Uygur population, which is similar to that in the Tibet and Han populations. These findings provide the basic data for exploring the origin and evolution, ethnic hematology and construction of rare blood database of the Xinjiang Uygur population.       

新疆维吾尔族患者HPV感染型别临床分析

目的分析新疆维吾尔族妇女子宫颈HPV感染类型及其分布的规律。方法采用导流杂交基因分型技术对318名妇科维吾尔族就诊患者进行HPV基因分型检测。结果 HPV-DNA检测阳性者占21.70%（69/318）。低危型感染12例（20.69%）,以HPV 6和HPV 1l为主;高危型感染46例（79.31%）,以HPV 16、HPV58和HPV68感染为主。多重感染11例,感染率为3.46%。从年龄分布来看,≤25岁的患者占31.48%,HPV感染率最高,其次为50~55岁年龄段的患者占25.71%。结论 HPV分布存在地域和种族差异,加强对新疆各年龄人群,多种型别HPV的筛查,有助于预防宫颈癌的发生及了解HPV感染的转归,并为新疆地区宫颈癌干预提供理论基础。     

Seroprevalence of Kaposi's sarcoma‐associated herpesvirus and risk factors in Xinjiang,China

Xinjiang, China is an endemic area for Kaposi's sarcoma (KS) but the seroprevalence of Kaposi's sarcoma‐associated herpesvirus (KSHV) and risk factors remain undefined. In this study, antibodies to one KSHV latent protein (ORF73) and two KSHV lytic proteins (ORF65 and ORF‐K8.1) were examined in 2,228 subjects from the general population and 37 subjects infected with HIV‐1 in Xinjiang, and 560 subjects from the general population in Hubei, a low KS incidence region. The serostatus of a serum sample was defined based on positive results in any one of the three serologic assays. The seroprevalence of KSHV in the general population was higher in Xinjiang than in Hubei (19.2% vs. 9.5%; odds ratios [OR], 2.28; 95% confidence interval [CI], 1.68–3.08; P < 0.001). Among the ethnic groups in Xinjiang, 68 (15.8%) Han, 182 (20.7%) Uygur, 140 (19.9%) Hazakh, 9 (33.3%) Xibo, and 29 (16.8%) Hui were KSHV‐seropositive, respectively. Compared to the Han, the latter groups had an increase in the risk of KSHV of 62.2%, 63.8%, 180.1%, and 30.2% (P = 0.003, 0.004, 0.018, and 0.286, respectively). Subjects aged <20, 20–50, and >50 had a seroprevalence of KSHV of 11.8%, 17.9%, and 24.6%, respectively. Compared to subjects aged <20, the latter groups had an increase in the risk of KSHV of 63.3% and 144.5% (P = 0.009 and <0.001, respectively). Subjects infected with HIV‐1 in Xinjiang had a seroprevalence of KSHV of 43.2%, and a 220% increase in the risk of KSHV compared to the general population (P < 0.001). Similar results were obtained when the seroprevalence of KSHV was analyzed with any single or two of the three serologic assays alone. Genotyping identified three unique sequences clustered in the A clade. This study indicates that Xinjiang has a high seroprevalence of KSHV. Geographic location, ethnicity, age and HIV‐1 infection are risk factors. Serologic and genotyping results suggest the introduction of KSHV into Xinjiang by specific ethnic groups. J. Med. Virol. 81:1422–1431, 2009. © 2009 Wiley‐Liss, Inc.     

Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation

The two common polymorphisms (385A > G: M129V and 655G > A: E219 K) in the human prion gene (PRNP) play important roles in the pathogenesis of Creutzfeldt-Jakob diseases. We screened a total of 626 individuals, who represent three ethnic populations of China, Han, Hui, and Uyghur, for the two polymorphisms. The frequencies of M/M homozygote at residue 129 in these three groups differ significantly. The Han has a much higher frequency (98%) than Hui (85%) and Uyghur (60%). On the other hand, the frequencies of the E/E at residue 219 are higher in Uyghur (98%) and Hui (96%) than in Han (90%). We also investigated two other less common variants of PRNP, a silent substitution at residue 117 (351A > G: A117A), and one octapeptide-repeat deletion (1-OPRD) in the octapeptide-coding region. We found three Uyghur individuals with silent substitution at residue 117. Four Hui (2.0%) and one Han (0.5%) donors were found to be heterozygous for 1-OPRD. A novel three extra-repeat (72 bp) insertion within the octapeptide-coding region was identified in one healthy 11-years-old Hui. Identical mutation was also found in her mother but not her father.     

Associations between genetic variations in the FURIN gene and hypertension

Background  

Hypertension is a complex disease influenced by multiple genetic and environmental factors. The Kazakh ethnic group is characterized by a relatively high prevalence of hypertension. Previous research indicates that the FURIN gene may play a pivotal role in the renin-angiotensin system and maintaining the sodium-electrolyte balance. Because these systems influence blood pressure regulation, we considered FURIN as a candidate gene for hypertension. The purpose of this study was to systematically investigate the association between genetic variations in the FURIN gene and essential hypertension in a Xinjiang Kazakh population.     

和田地区维吾尔族人群线粒体DNA遗传多样性分析

目的:分析和田维吾尔族人群线粒体DNA遗传多样性。方法:运用基因芯片技术对411个(高变区Ⅰ、编码区、高变区Ⅱ)SNP位点进行了检测和分型。结果:所测411个SNP位点中83个位点发生了突变,其中A750G、A8860G、T10873C、A25326G、T16189C5个位点的突变率为100%。依据突变位点共划分出25种单倍型。其中,单倍型H2a2a、M、G2a、HV和A有较高的频率(11.36%、9.09%、6.82%、6.82%、6.82%)。52.2%的单倍型属于亚洲单倍型,47.8%的单倍型属于欧洲单倍型,不同地区维吾尔族群体线粒体DNA单倍型有较大差异。结论:和田维吾尔族mtDNA-SNP具有较丰富的遗传多样性,具有明显的亚欧混合现象。维吾尔族母系遗传库较丰富,适用于个体识别、亲子鉴定、疾病诊断。