中国南方汉族群体MPSI型Kpn I酶切位点的遗传多态性

为研究中国汉族群体IDUA 基因Kpn I 酶切位点的遗传多态性以及该位点等位基因片段传递的规律, 采用PCR-RFLP技术, 对162例无血缘关系的健康中国汉人的324条 染色体进行检测,另又对5个家系16位成员进行同样的检测,然后用χ     

中国南方汉族群体MPSⅠ型KpnⅠ酶切位点的遗传多态性

为研究中国汉族群体IDUA基因球KｐｎⅠ酶切位点的遗传多态性以及该位点等位基因片段传递的规律,采用PCR－RFLP技术,对162例无血缘关系的健康中国汉人的324条染色体进行检测,另又对5个家系16位成员进行同样的检测,然后用X2检验进行统计学处理。结果表明,等位基因A1频率为0．17,等位基因A2频率为0．83,杂合率为29％;A1、A2的传递规律与理论上预计的完全符合。认为中国汉族群体IDUA基因KｐｎⅠ酶切位点也具有遗传多态性,并且与国外报道的无显著性差异;A1、A2在世代中的传递完全符合孟德尔遗传规律。     

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.     

重庆市汉族健康人群白细胞介素-1基因多态性的研究

为了了解白细胞介素-I基因在中国重庆市汉族健康人群中的分布及其与不同种族比较的特点,采用了聚合酶链反应-限制性片段长度多态（PCR—RFLP）的方法,对140名重庆市汉族健康者的IL-1B-511基因多态性和IL-1RN第2内含子可变数目串联重复序列多态性进行检测,并结合相关文献进行了不同种族间的分析比较。结果表明重庆市汉族健康人群中1L-1B-511的各基因型频率为C/T型0．58、形,型0．50、C/C型0,32,与西班牙白种人相比,重庆地区汉族人IL-1B,B-511等位基因频率存在明显差异（P〈0．05）。1L-1RN的各基因型频率为1／1型0．93、1／2型0．05、1／4型0．01、4／4型0．01,与西班牙白种人及南非黑种人相比,重庆地区汉族人,IL-IRN等位基因频率存在明显差异（P〈0．05）。由此可以得出重庆地区汉族人群IL-1B-511位点存在C／T多态性和IL-1RN基因的第2号内含子存在可变数目串联重复序列多态性．其在不同种族间的分布存在着差异．     

中国南方汉族人群6个Y-STR基因座 遗传多态性及法医学应用

为研究中国南方汉族人群DYS393等6个Y-STR基因座的遗传多态性并用于法医学鉴定,通过采用PCR复合扩增和基因测序仪荧光检测方法,检查204个无关男性个体,调查南方汉族的6个Y-STR基因座的单倍型频率,并对93对真父子和38对非父子的亲子鉴定样本进行检测。结果DYS393基因座检出5个等位基因,DYS19基因座检出6个等位基因,DYS389Ⅱ基因座检出8个等位基因,DYS390基因座检出6个等位基因,DYS391基因座检出4个等位基因,DYS385 基因座检出44个等位基因,共检出176种单倍型。93对真父子中,观察到2例分别有1个基因座突变。检测38对非父子,有1个或2个Y-STR基因座排除的案例各有1例（2.6%）;有3 个和3个以上的Y-STR基因座可以排除父子关系的案例为35例（92.1%）;6个Y-STR基因座不能排除父子关系的为1例。结果表明6个Y-STR基因座具有丰富的遗传多态性,可用于法医学个体识别和亲子鉴定。Abstract: To study the genetic polymorphisms of six Y-chromosome specific STR loci in the southern Chinese Han population and apply it in forensic science, six Y-STR loci were amplified by multiple PCR and the PCR products were detected by using ABI PrismTM 377 Sequencer. The haplotype frequencies at 6 Y-STR loci were determined in a total of 204 unrelated males from southern Han population of China. Ninety-three father/son pairs with demonstrated paternity and thirty-eight non-paternity father/son pairs were detected by using our Y-STR system. As a result, the number of alleles for DYS393、DYS19、DYS389Ⅱ、DYS390、DYS391and DYS385 were 5, 6, 8, 6, 4 and 44 , respectively. A total of 176 haplotypes at 6 Y-STR loci were found. Two father/son pairs with single Y-STR mutation were observed in the 93 father/son pairs with demonstrated paternity. Among the 38 non-paternity father/son pairs, one case with one Y-STR exclusion of paternity, one case with two Y-STR exclusions and 35 cases with 3 or more Y-STR exclusions were observed. Non-exclusion of paternity at 6 Y-STR loci was found only in one case. This result indicated that the six Y-STR loci were highly polymorphic and are suitable for personal identification and paternity testing.     

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     

北京地区汉族人群21号染色体上5个STR基因座的遗传多态性

阐明21号染色体上唐氏综合征关键区域内或附近的5个STR基因座（D21S1413、D21S1446、D21S1437、D21S1411、D21S1412）在北京地区汉族人群中的结构特征和群体遗传学数据。Chelex法提取血DNA,PCR扩增后,应用聚丙烯酰胺凝胶电泳和银染法或基因片段扫描检测法进行STR分型,测序后确定STR基因座的主型和进行等位基因的命名。结果该5个STR基因座具有简单重复序列和遗传多态性,杂合度和多态信息含量高。它为唐氏综合征的基因诊断和产前基因诊断提供理论依据,也为这些遗传标记在我国人群中进行亲子鉴定和个体识别提供概率计算依据。Abstract: To elucidate the genetic polymorphisms of five STR loci on chromosome 21 in Chinese Han population and construct a preliminary database,EDTA-blood specimens were collected from unrelated individuals in Beijing. The DNAs were extracted with Chelex method and were amplified by PCR. The PCR products were analyzed by the PAG electrophoresis or by the approach of the automated fluorescent detection. The five STR loci consist of simple repeat motif and its distributions of genotypes are agreement with Hardy–Weinberg equation. Its polymorphism information content is all over 0.50. The obtained data can not only be used as evidences for genetic diagnosis of Down Syndrome, but also for calculating the probabilities in the paternity test and individual identification.     

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。     

HLA－DRB1基因位点多态性的PCR－RFLP分析

设计并建立一套适合国内应用的改良ＰＣＲ－ＲＦＬＲ方法,分５组特异性扩增ＤＮＡ样品,随后进行酶切定型分析,准确检测了编码ＤＲ抗原特异性的ＨＬＡ－ＤＲＢ１基因位点的多态性,该法采用分组扩增,不发生与其它ＤＲＢ位点等位基因的交叉扩增,不仅适合纯合子的区分而且可以清楚准确地检测杂合子样品,已报道过的ＤＲＢ１位点编码的特异性组合都可以通过这个方法得到准确分析。所使用的Ⅱ类限制性内切酶均价格便宜、易购。     

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.     

中国人胃癌和正常组织基因组DNA中癌基因Ha-ras的限制性片段长度多态性研究

本文报道以PHS-49为探针,分析了中国人群中36例胃癌患者癌组织和25位正常人体组织基因组DNA中Ha-ras基因的BamHI限制性片段长度多态性(RFLPs)。发现了10种不同长度的片段和18种基因型。其中4种小于6kb的BamHI片段是迄今国外未见报道的,这可能是中国人群遗传多态性的一个特征。此外,在胃癌组织中发现Ha-ras的一些稀有等位基因和基因型的频率明显高于正常人群。对两名胃癌患者家系中的11名成员也作了RFLPs分析,发现有些成员出现3条和4条限制性片段的杂合个体,表明这些个体的染色体上含有的Ha-ras基因不只一份拷贝。对上述现象的可能原因作了分析和讨论。     

北京地区汉族群体D1S1612和D18S535基因座的遗传多态性

采用扩增片段长度多态性（Amp-FLP）分型技术,调查中国北京地区汉族群体D1S1612、D18S535 基因座的遗传多态性,获得等位基因频率分布。结果显示, D1S1612检出9个等位基因,25种基因型, D18S535检出9个等位基因,27种基因型。两个STR基因座的杂和度（H）分别为0.779、0.887;个人识别率（Dp）分别为0.901、0.927;非父排除率（PE）分别为0.564、0.770;多态信息容量（PIC）分别为0.723、0.796,卡方检验表明两个STR 基因座基因型频率分布符合Hardy-Weinberg平衡 (P>0.01 )。D1S1612和D18S535 基因座均属高杂合度、高识别能力的遗传标记,可用于法庭科学亲子鉴定和个人识别。 Abstract: To investigate the genetic polymorphism of D1S1612 and D18S535 in Han population of Beijing. Amp-FLP method was used. 9 alleles, 25 genotypes were observed for D1S1612 locus; and 9 alleles and 27 genotypes for D18S535 locus. All allele frequencies, heterozygosity (H), discrimination power (Dp), exclusion of paternity probability (PE) and polymorphism information content (PIC) were calculated. The allele distributions of the two loci were conformed to Hardy-Weinberg equilibrium (P>0.01). According to the results obtained in this study, it is suggested that both D1S1612 and D18S535 are useful genetic markers for individual identification and paternity testing in forensic science practice as well for genetic study.     

PCR-RFLP检测LDL受体基因TaqⅠ多态性位点的研究

应用聚合酶链反应(PCR)扩增人类LDL受体基因外显子4-内含子4-外显子5片段,PCR产物为1.55kb,DNA片段经序列鉴定后,进行TaqI酶切位点的RFLP分析。结果显示:中国汉族人群LDL受体基因中存在着TaqⅠ酶切位点多态性; 200个LDL受体等位基因中TaqⅠ酶切位点出现的频率为0.515,该点频率较为适中, 可作为中国汉族人群LDL受体基 因的遗传标志来进行家族性高胆固醇血症(FH)的基因诊断。所建立起的LDL受体基因TaqⅠ位点的PCR -RFLP方法具有快速、简便的特点,在FH的基因诊断上有应用价值。 Abstract:To develop rapid and sensitive technique for detectin the TaqI polymorphism at the human LDL receptor gene in Chinese,the exon4-intron4-exon5 of the human LDL receptor gene was amplified by polymerase chain reaction(PCR).The PCR products were directly analysed by restriction fragment length polymorphisms(RFLP).The results showed that the TaqI polymorphism is associated with the LDL receptor gene in Chinese of Han nationality;The frequency of T= allele (presence of TaqI cutting site)is 0.515 in 200 LDL receptor alleles.This technique may be used for rapid and sensitive screening of the LDL receptor gene for the TaqI polymorphism.     

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.     

青海湖裸鲤mtDNA遗传多样性的初步研究

本文用BclⅠ、AvaⅠ、BamHⅠ、PstⅠ、KpnⅠ、PvuⅡ共6种限制性内切核酸酶,分析了15尾青海湖裸鲤mtDNA的限制性片段长度多态性,共检测出20个酶切位点,发现BclⅠ、BamHⅠ和PvuⅡ三种酶切类型具有多态性.根据不同个体mtDNA的酶切类型,青海湖裸鲤存在4种mtDNA单倍型,计算mtDNA多态度π值为0.0043,初步认为青海湖裸鲤在线粒体DNA上存在较丰富的群体内变异、 Abstract:An analysis of patterns of cleavage of mtDNA by restriction endonucleases was performed for 15 Gymnocypris przewalskii przewalskii.Mitochondrial DNA polymorphisms were detected in the restriction patterns generated by the following 5 enzymes,BclI,AvaI,BamH],PstI,KpnI,PvuII.Only 3 of them (BclI,BantHI,PvuII) were found to be polymorphisms.Our results shorted that there were 4 mtDNA haplotypes in Gyrnnocypris przewalskii przewalskii and the genetic divergenec(π)was 0.0043,which indicated that mtDNA genetic diversity in Gymnocypris przewalskii przewalskii is higher.     

中国及荷兰人群vWF基因内含子40多态性分析

本文调查了中国汉族及荷兰高加索群体中人类vWF基因内含子40 nt 31/2 215～2 380 区域 HUMFA 31(C) 遗传多态性的基因频率及基因型频率分布。并对两群体之间的分布以拟然比方法进行比较。对9个等位基因片段测序的结果表明, 在nt 31/2 234～2 265区域也有变异存在。提示该座位当被测等位基因DNA片段长度相同时,仍可能存在遗传差异。 Abstract　The allele frequencies and phenotype distribution of humanvWFgene intron 40 in the region of nt 31/2 215～2 380 (HUMFA 31(C)) were investigated in the population of the Netherlands and China. The data between two populations were compared by likelihood ratio test. Nine alleles were sequenced and the polymorphism of region of nt 31/2 234～2 265 was revealed.     

中国人dystrophin基因RFLPs的初步研究

我们用dystrophin基因的cDNA全顺序(长14 kb)为核酸分子杂交探针,对中国人dystrophin基因内的RFLPs进行了初步研究。在结果中给出了PvuⅡ/1 a、Taq Ⅰ/2 b—3、PvuⅡ/2 b—3、TaqⅠ/5 b—7、Xba Ⅰ/10五种杂交中所见的六个RFLPs 的预期杂合频率和受检女性的实际杂合频率;其中PvuⅡ/2 b—3(A 1=26.0 kb,A 2=3.8 kb)和Taq Ⅰ/5 b—7(A 1=10.0 kb,A2=8.4 kb)的2个RFLPs为本文首次报道。PvuⅡ/1 a的2个RFLPs 的等位片段频率与日本人的同类研究结果比较,差异无显著性。但Taq Ⅰ/2 b—3、Taq Ⅰ/5 b—7、Taq Ⅰ/8、EcoR Ⅴ/9和Xba Ⅰ/10的5个RFLPs 与高加索人的数据比较,发现其中4个RFLPs 的等位片段频率的差异有极其显著性。这提示了东西方人在dystrophin 基因的分子结构上存在着较大的差别。在这些差异之中,Taq Ⅰ/2 b—3、Taq Ⅰ/8和EcoR Ⅴ/9检出的RFLPs 等位频率,中国人低于高加索人;而Xba Ⅰ/10检出的RFLPs 等位频率则显著高于高加索人;另外Taq Ⅰ/5 b—7检出的RFLPs的等位片段频率则与高加索人相近。实验结果还提示PvuⅡ/1 a、Taq Ⅰ/5 b—7和Xba Ⅰ/10这三种杂交,对于在中国人群中检测DMD/BMD 基因携带者以及产前诊断,具有很高的应用价值。     

广东汉族健康人载脂蛋白AⅠ-CⅢl-AⅣ基因簇DNA多态性及其单倍型分布

本文研究了中国广东汉族健康人群apoAI-CⅢ-AIV基因簇DNA限制性内切酶PstI、SstI和EcoRI片段长度多态性。其中等位基因P_1,P_2,S_1,S_2,R_1和R_2的频率分别为0.98,0.02,0.96,0.04,0.90和0.10。经卡方检验符合Hardy-Weinbery氏遗传平衡,与其他种族比较,本文结果显示中国广东汉族人P_2等位基因频率低于日本人、亚洲印第安人和高加索人,S_2等位基因频率低于日本人、菲律宾人、沙特阿拉伯人和亚洲印第安人,而与高加索人相近,R_2等位基因频率稍高于高加索人。不同种族间apoAI-CⅢ-AIV基因簇DNA多态频率无疑存在差异,这种差异可能是由于遗传漂变和自然选择单独或联合作用所致。对P_1、P_2,S_1、S_2和R_1、R_2构成的单倍型和连锁平衡程度进行了分析,结果显示这些单倍型处于连锁不平衡状态。     

组织蛋白酶D基因C224T多态与散发阿尔茨海默氏病的关联研究

组织蛋白酶D（Cathepsin D）是一种细胞核内体/溶酶体内的门冬酰胺蛋白酶。它有可能通过剪切淀粉样前体蛋白参与阿尔茨海默氏病（Alzheimer’s disease, AD）相关的神经退化。在以德国人为对象中的研究显示组织蛋白酶D基因（CTSD）C224T多态与AD发病风险紧密相关。然而,此结果未能在另一些群体中得到重复。为此,我们通过聚合酶链反应-限制性片段长度多态性方法分析了CTSD基因C224T多态性和载脂蛋白E（apolipoprotein E, ApoE）基因多态性在成都地区汉族老年人中的分布,探讨了CTSD C224T多态与散发AD的相关性。结果发现CTSD基因C224T多态分布在病例组与对照组之间没有显著性差异,提示成都地区汉族人群中CTSD基因C224T多态与散发AD不具有关联;但比值比的比较提示CTSD等位基因T和ApoEε4有弱的协同作用。Abstract: Cathepsin D is the major lysosomal/endosomal aspartic protease and exhibits β- and γ-secretase-like activity in vitro. Data from German suggest that the C224T polymorphism in the Cathepsin D gene (CTSD) exon 2 is strongly associated with the risk for Alzheimer’s disease (AD).Meanwhile other studies have not been able to replicate the result. It’s necessary to determine the genotype of the polymorphism in CTSD in Chinese sporadic AD patients and age-matched controls with normal cognition and examine possible association of the polymorphism with the disease. We find no strong evidence of association between the CTSD C224T polymorphism and Chinese sporadic AD. Whereas there may be a weak synergistic interaction between ApoE ε4 and CTSD T allele.     

载脂蛋白E基因多态性与2型 糖尿病脑梗死的关系

研究载脂蛋白E (ApoE) 基因多态性与中国东北汉族2型糖尿病合并脑梗死的关系。采用聚合酶链反应－限制性片段长度多态性（PCR-RFLP）技术,检测了208例个体的ApoE基因多态性,其中对照（CON）组69例,2型糖尿病无大血管病变（T2DM）组67例和2型糖尿病合并脑梗死（T2DMCI）组72例;同时测定了其中70例T2DMCI患者的血脂含量。CON组等位基因频率为：ε2 9.6％、ε3 82.4％、ε4 8.1％,基因型频率为：ε2ε3 13.2％、ε3ε367.6％、ε3ε416.2％;T2DM组等位基因频率为：ε2 10.5％、ε3 84.3％、ε4 5.2％,基因型频率为：ε2ε3 19.4％、ε3ε370.1％、ε3ε49％;T2DMCI组等位基因频率为：ε2 11.8％、ε3 84.7％、ε4 3.5％,基因型频率为：ε2ε3 15.2％、ε3ε375％、ε3ε44.2％。3组间等位基因和基因型频率的差异经检验无统计学意义。T2DMCI患者中各基因型之间的血浆总胆固醇 （TC）、甘油三酯 （TG）、高密度脂蛋白胆固醇（HDL-C）和低密度脂蛋白胆固醇（LDL-C）水平亦无显著性差异。在中国东北汉族人群中,未发现ApoE基因多态性与T2DMCI之间存在关联,亦未发现ApoE基因多态性与T2DMCI患者的TC、TG、 HDL-C和 LDL-C水平之间存在关联。Abstract: In order to explore the association of apolipoprotein E (ApoE) gene polymorphism with cerebral infarction in type 2 diabetic patients of Han nationality in Northeast China , the genotypes of ApoE gene were analyzed by polymerase chain reaction –restriction fragment length polymorphism (PCR-RFLP) in the 208 cases, including 69 cases in control (CON) group and 67 in type 2 diabetes mellitus (T2DM) group as well as 72 in type 2 diabetes mellitus with cerebral infarction (T2DMCI) group. Plasma lipid content in T2DMCI was also detected for 70 cases. The distribution of genotypes in ApoE gene,ε2ε3、ε3ε3 as well asε3ε4 was no significant difference in three groups (ε2ε3 : 13.2％、ε3ε3 : 67.6％、ε3ε4 : 16.2％in CON group;ε2ε3 : 19.4％、ε3ε3: : 70.1％ε3ε4 : 9％in T2DM group;ε2ε3 : 15.2％、ε3ε3 : 75％、ε3ε4 : 4.2％in T2DMCI group).The allele frequencies ofε2、ε3 andε4 were not significantly different in the three groups, either (ε2 : 9.6％、ε3 : 82.4％、ε4 : 8.1％in CON group; ε2 :10.5％、ε3 :84.3％、ε4 : 5.2％in T2DM group; ε2 :11.8％、ε3 :84.7％、ε4 : 3.5％in T2DMCI group). The levels of total cholesterol (TC), tryglyceride (TG), high density lipoprotein-cholesterol (HDL-C) and low density lipoprotein-cholesterol (LDL-C) were not significantly different among the different genotypes in T2DMCI group. The study confirmed that the polymorphisms of ApoE gene are neither associated with the T2DMCI, nor with the levels of plasma lipid in T2DMCI.