腺苷酸激酶在我国九个民族中的多态分布

用淀粉胶电泳及特异染色的方法,对我国9个民族的腺苷酸激酶(AK)多态分布进行了测定。9个民族中维吾尔族AK表型分布具有多态性。维吾尔族中AK_1~1基因频率为0.965,AK_1~2基因频率为0.035,而侗、回、白、土家、苗、彝、藏、满等8个民族的AK_1~2均未达到多态水平。在9个民族中AK_1表型分布均符合Hardy-Weinberg平衡,并且未发现其它罕见表型。     

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。     

云南苗族EAP、ADA和AK1的分布及其基因频率

DistributionandGeneFrequcnciesofEAP,ADAandAK1intheMiaoEthnicGroupofYunnan,ChinaouJiongwenShenBinZhouLangpingZhaoLipingZhaoYonghe(DepartmentofForensicMedicine,KunmingMedicalCollege,Kunming650031)我们对居住于云南的苗族人红细胞EAP、ADA和AK1的分布进行了调查。138例苗族人血样采自云南省屏边苗族自治县民族小学的学生,各取措梢血少许,涂于干净纱布上自然晾干,制成血痕样品,低温干燥保存。按文献[3]所述方法对样品进行EAP－AK1同步电泳分型检测,对所得数据进行统计处理。本次调查所检测的EAP、ADA…     

蒙古族、朝鲜族和壮族中腺苷酸激酶、腺苷脱氨酶、血清触珠蛋白、α_1-抗胰蛋白酶的多态性

调查了中国内蒙古的蒙古族、吉林的朝鲜族和广西壮族的红细胞腺苷酸激酶(AK)、腺苷脱氨酶(ADA)及血清触珠蛋白(Hp)、a_1-抗胰蛋白酶(a_1-AT)的遗传多态性。蒙古族、朝鲜族、壮族的基因频率:AK_1~1分别为0.9843、1.0000、1.0000;ADA~1分别为0.9529、0.9468、0.9573;Hp~1分别为0.2597、0.3152、0.3571;在a_1-AT中Pi~M分别为0.9953、0.9953、0.9928,Pi~s分别为0.0000、0.0000、0.0072,Pi~F分别为0.0047、0.0047、0.0000。x~2检验表明,三个民族各项指标的表型观察值都符合Hardy-Weinberg法则。     

中国广东汉族人群核苷酸修复基因hMTH1 遗传多态性研究

为研究中国南方汉族人群核苷酸修复基因hMTH1遗传多态性,应用聚合酶链反应-单链构象多态性技术检测172名健康人外周血白细胞hMTH1基因启动子及全部5个外显子多态性,并进行DNA测序。结果发现hMTH1基因启动子及外显子1序列保守,未见突变;外显子2第73位碱基存在T→C杂合型突变,基因型TT和TC频率分别为93.02%、6.98%,等位基因T和C频率分别为96.51%、3.49％;外显子3第45位遗传密码存在T→C杂合型突变,基因型TT和TC频率分别为95.35%、4.65%,等位基因T和C频率分别为97.67%、2.33%,该多态性为首次发现;外显子4第83位遗传密码存在G→A杂合型突变,基因型GG和GA频率分别为89.53%、10.47%,等位基因G和A频率分别为94.77%、5.23％;外显子5第119位氨基酸遗传密码存在C→T杂合型突变,基因型CC和CT频率分别为95.93%、4.07%,等位基因C和T频率分别为97.97%、2.03％。Abstract: In order to study the genetic polymorphisms of nucleotide repair gene hMTH1 in southern Chinese Han population, the polymorphisms of the gene’s promoter and its five exons among peripheral blood lymphocytes of 172 Chinese Han people were analyzed with polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing. The sequences of the promoter and exon 1 of hMTH1 gene were conserved. A T to C polymorphism was detected at the 73th base in exon2. The genotype frequencies of TT and TC were 93.02% and 6.98%, respectively. The allelic frequencies of T and C were 96.51% and 3.49％, respectively. A T to C polymorphism was detected at codon 45 in exon3, which was first reported. The genotype frequencies of TT and TC were 95.35% and 4.65%, respectively. The allelic frequencies of T and C were 97.67% and 2.33%, respectively. A G to A polymorphism was detected at codon 83 in exon4. The genotype frequencies of GG and GA were 89.53% and 10.47%, respectively. The allelic frequencies of G and A were 94.77% and 5.23％, respectively. A C to T polymorphism was detected at codon 119 in exon5. The genotype frequencies of CC and CT were 95.93% and 4.07%, respectively. The allelic frequencies of C and T were 97.97% and 2.03％, respectively.     

中国20个民族中PGM_1及其亚型EsD、GLO1、AK、ADA和6-PGD酶型分布调查

调查了汉族、鄂伦春、赫哲、朝鲜、蒙古、羌、土家、苗、侗、畲、壮、纳西、傈僳、白、彝、景颇、哈尼、傣、维吾尔和塔吉克等20个民族的PGM_1及其亚型,EsD、GLO_1、AK、ADA和6-PGD等酶型的分布及基因频率。PGM_1及其亚型、EsD和GLO_1在中国各民族中是分布较好的,个人识别能力较高的酶。有12个民族查出有PQM_1~6基因,壮族的频率最高,PGM_1 6-1表型达4.15％。对在4174份血样中所检出的带有PGM_1~6基因的68份血样做亚型分析,在凝胶上PGM_1~6谱带均在同一位置上。EsD_1基因频率的总趋向是北方各民族高于南方。哈尼、傈僳、傣、纳西、畲、壮、侗和苗等民族EsD2-2表型达15％以上,哈尼族高达32.4％。GLO1~1基因频率塔吉克和维吾尔族为0.2927和0.2112,羌族为0.0583,其它各族在0.0714—0.1527。各民族AK~1、ADA和6-PGD~(?)基因频率均甚高。     

中国汉族人群原纤维蛋白-1基因(FBN1)第27内含子G/A多态性

采用PCR-ASO方法, 对日本筑波大学101名中国汉族留学人员的DNA样品进行了原纤维蛋白-1基因(FBN1)第27内含子G/A多态性测定。结果发现,A等位基因频率为0.5396,G等位基因频率为0.4604。与Tynan等人报道的数据(A和G等位基因的频率分别为0.1675和0.8325)相比,有非常显著差异(P<0 .01),提示两样本间有不同的遗传背景。 Abstract:The G/A polymorphisms in intron 27 of fibrillin-1 gene in 101 Chinese Hans who were studying and working in University of Tsukuba,Japan were analyzed with PCR-ASO method.The frequencies of A and G alleles,were 0.5396 and 0.4604 respectively.In a population sample reported by Tynan the frequency of A allele was 0.1675 that of G allele was 0.8325.The distribution of G/A polymorphism was significantly different between the two population sample(P<0.01),suggesting different genetic backgrounds.     

贵州地区汉族人群THO1、TPOX、CSF1PO基因座的遗传多态性

为了解贵州地区汉族群体中THO1、TPOX、CSF1PO基因座的遗传多态性,获得这3个基因座的群体遗传学数据和法医学相关数据。采自贵州地区汉族无关个体的110份EDTA抗凝血样用Chelex法提取DNA,应用PCR复合扩增技术扩增样本后,聚丙烯酰胺凝胶电泳分型。对3个STR基因座的等位基因频率进行了调查分析,并与其他汉族人群的等位基因频率进行了比较。在贵州汉族群体中,3个基因座的基因型分布符合Hardy-Weinberg平衡。3个STR基因座总个体识别率为0.9986,累积非父排除率为0.832。表明这3个基因座在法医学个体识别及亲子鉴定中是很有价值的遗传标记系统。 Abstract:To understand the genetic polymorphism at THO1,TPOX,CSF1PO STR loci for Han population in Guizhou Province,and construct a preliminary database,EDTA-blood specimens were collected from the 110 unrelated individuals in Han population from Guizhou.The DNA samples were extracted with Chelex method and amplified by multiplex polymerase chain reaction.The PAGE was used to type the PCR products.The allele frequencies were compared with other Han populations.The genotype distributions of THO1,TPOX and CSF1PO were in accordance with Hardy-Weinberg equilibrium.The combined PD and PE were 0.9986 and 0.832 respectively.All of the three loci in this study provide useful marker for forensic paternity test and individual identification.     

云南汉族人群D17S30位点扩增片段长度多态性A

应用PCR技术和小型聚丙烯酰胺凝胶电泳银染法, 对云南汉族人群D17S30位点扩增片段长度多态性进行了分析。在被检的105名无关个体中,共检出12个等位基因,41种基因型。等位基因频率范围在0.0048-0.2190之间,杂合度为83.81%,DP值为0.9647。观察的基因型分布符合Hardy-Weinber g定律。 Abstract:A study on amplified fragment length polymorphism(Amp-FLP)at locus D17S30 in Han nationality of Yunnan was carried out by using PCR followed by a high-resolution PAGE technique and silver staining.In a sample of 105 unrelated individuals,a total 12 different alleles and 41 genotypes were detected.The heterozygosity was 83.81% and the probability of discrimination(DP) was 0.9647.The distribution of observed genotypes obeyed the Hardy-Weinberg equilibrium.     

三系杂交稻亲本随机扩增多态性DNA(RAPD)分析

选用9个随机引物对31份杂交水稻亲本材料进行了RAPD分析, 共检测到60条多态性带。聚类分析结果表明,所有供试材料可以被明确地区分。在9个随机引物中,有8个具有较高的多态性检测能力。以这8个引物为基础,选用任两个引物即可在任一对材料中检测出多态性的频率在96.13%以上,而选用任3个引物则该频率在99.21%以上。这显示了运用RAPD鉴定稻种具有简便、灵敏、高效的优点,在鉴定杂交稻种的实践中有着良好的应用前景。 Abstract:Seven rice sterile lines,12 maintainer lines and 12 restorer lines were analyzed by RAPD with 9 primers.Altogether,118 fragments were generated,of which 60 detected polymorphisms among rice marker.Eight of nine primers can detect high polymorphism.The frequencies of polymorphism in any primers were used,the frequencies would be higher than 99.21%.The eight primers were therefore recommended as candidates for the identification of hybrid rice seeds.     

云南10个民族红细胞酸性磷酸酶型分布调查

用淀粉凝胶电泳法对云南省汉族及9个少数民族的红细胞酸性磷酸酶(ACP_1)的表型分布进行了调查,检出A、BA和B3种表型,计算得云南汉、彝、白、傣、瑶、佤、哈尼、布朗、基诺和拉祜族ACP_1~A、ACP_1~B的基因频率依次为0.2067、0.7933;0.2406、0.7594;0.2341、0.7659;0.3750、0.6250;0.2300、0.7700;0.2727、0.7273;0.3594、0.6406;0.3036、0.6964;0.2381、0.76119和0.4474、0.5526。未发现ACP_1~C基因及其它稀有基因。研究表明,ACP_1表型的分布存在着一定的种族与民族差异。     

云南省15个民族红细胞PGM1亚型分布调查

采用超薄层聚丙烯酰胺凝胶等电聚焦电永地,对云南省汉族、彝族、白族、苦聪人、哈尼族、傣族、瑶族、基诺族、布郎族、瓦族、拉祜族、回、傈僳族、纳西族和普米族等１５个民族红细胞ＰＧＭ１亚型分布进行了调查。计算出上述１５个民族的ＰＧＭ１亚型分布的基因频率及ＤＰ值,经统计学检验表明：ＰＧＭ１亚型的分布上述１５个民族中存在着明显的民族间差异,但在北京、辽宁、西安、云南４个不同地区的汉族人群中ＰＧＭ１型分布却无显     

云南苗族人红细胞EsD、PGM1和GLOI分布的调查

采用EsD-PGM1-GLOI同步电泳分型法,对云南省屏边苗族自治县138例苗族人红细胞EsD、PGM1和GLOI作了分型调查,计算出这3种红细胞同功酶的基因频率是:EsD1 0.6014、PGM11 0.6304(PGM61 0.0109),GLO1 0.1123;根据这3种同功酶的表型频率计算出DP值分别为EsD 0.6206 ,PGM1 0.6315,GLOI 0.3377,累积DP值0.9074。     

彝族、藏族与哈尼族血清胆硷酯酶的遗传多态性

按照Kalow等的方法对中国3个人群的血清胆硷酯酶(简称ChE)的遗传多态性进行了研究。3个人群是四川省布拖县彝族(197人)、西藏自治区拉萨市藏族(100人)及云南省元江县哈尼族(170人)。根据每一个体的地布卡因值和氟化钠值,按Motulsky的分型标准进行分型。结果表明,在彝族中有3人属一般型+抗氟化物型(UF);在藏族中有2名UF;在哈尼族中也有3名UF,未发现不典型型(即抗地布卡因型的纯合子与杂合子),也未发现抗氟化物型的纯合子。因此,E_1~f基因频率在彝族、藏族与哈尼族中分别为0.0076、0.0100及0.0088。正常的常见等位基因E_1~(?)的频率分别为0.9924、0.9900及0.9912。这3个人群ChE表型分布均符合Hardy-Weinberg平衡法则。他们的基因频率与蒙古人种其他人群是一致的。     

Pituitary Adenylate Cyclase-activating Polypeptide Type 1 Receptor (PAC1) Gene Is Suppressed by Transglutaminase 2 Activation

Pituitary adenylate cyclase-activating polypeptide (PACAP) functions as a neuroprotective factor through the PACAP type 1 receptor, PAC1. In a previous work, we demonstrated that nerve growth factor augmented PAC1 gene expression through the activation of Sp1 via the Ras/MAPK pathway. We also observed that PAC1 expression in Neuro2a cells was transiently suppressed during in vitro ischemic conditions, oxygen-glucose deprivation (OGD). Because endoplasmic reticulum (ER) stress is induced by ischemia, we attempted to clarify how ER stress affects the expression of PAC1. Tunicamycin, which induces ER stress, significantly suppressed PAC1 gene expression, and salubrinal, a selective inhibitor of the protein kinase RNA-like endoplasmic reticulum kinase signaling pathway of ER stress, blocked the suppression. In luciferase reporter assay, we found that two Sp1 sites were involved in suppression of PAC1 gene expression due to tunicamycin or OGD. Immunocytochemical staining demonstrated that OGD-induced transglutaminase 2 (TG2) expression was suppressed by salubrinal or cystamine, a TG activity inhibitor. Further, the OGD-induced accumulation of cross-linked Sp1 in nuclei was suppressed by cystamine or salubrinal. Together with cystamine, R283, TG2-specific inhibitor, and siRNA specific for TG2 also ameliorated OGD-induced attenuation of PAC1 gene expression. These results suggest that Sp1 cross-linking might be crucial in negative regulation of PAC1 gene expression due to TG2 in OGD-induced ER stress.     

云南纳西族HLA—DRB1基因多态性研究及其族源分析

首次在国内采用本室改进的高分辨率的基于内含子的PCR－SBT分型方法,检测云南纳西族HLA－DRB1基因多态性。在60例纳西族个体中共检出37种HLA－DRB1等位基因,其显著特点是等位基因的类型检出较多,频率分布比较平均,除12021（17.50%）外其他的等位基因频率均低于8％,其他较常见的等位基因（＞5％）还有1404（7.50%）,1504（5.83%0,04051（5.83%0,08032（5.83%）,09012（5％）,03011（5％）。这几种中频等位基因共占可检出等位基因的35％,与12021一起共占52.49%,其中DRB1＊0305、0438、1123、1132、1310、0812为首次在我国人群中检出,并且在世界各地人群中也比较罕见。以纳西族和世界各地人群的HLA－DRB1频率进行了聚类分析。比较分析的结果显示纳西族明显属于中国南方族群,未显示出其族源来自北方的痕迹。根据遗传数据,并参照民族学、历史学研究,对其民族起源做了初步的分析。     

阴道毛滴虫氢化酶体腺苷酸激酶基因的克隆及序列分析

目的-克隆阴道毛滴虫氢化酶体腺苷酸激酶(AK)基因,并测定其序列,进行序列分析。方法-根据AK基因已知序列设计合成一对引物,应用PCR技术从阴道毛滴虫基因组DNA中扩增出AK基因,并将其克隆入pMD18-T simple载体。阳性克隆的重组质粒经酶切及PCR鉴定后,用双脱氧链末端终止法进行基因序列测定。应用BLAST软件辅助分析所测基因与Genbank中阴道毛滴虫氢化酶体AK序列的同源性。结果-PCR扩增得到特异的阴道毛滴虫氢化酶体腺苷酸激酶基因序列。酶切及PCR鉴定获得了正确的PT-AK重组质粒。测序表明,所克隆的AK基因大小为690bp,编码229个氨基酸。序列分析表明,所测基因与Genbank中阴道毛滴虫氢化酶体AK序列具有高度同源性(99．9％)。结论-克隆了阴道毛滴虫氢化酶体腺苷酸激酶基因,序列测定及同源性分析表明,所测基因与Genbank中阴道毛滴虫氢化酶体AK序列具有高度同源性。