Endothelial nitric oxide synthase gene intron 4, 27 bp repeat polymorphism and essential hypertension in the Kazakh Chinese population

To investigate the relationship between 27 bp repeat polymorphism in intron 4 in the endothelial nitric oxide synthase (eNOS4) gene and essential hypertension in the Kazakh Chinese population, 151 patients with essential hypertension and 138 healthy people were selected from the Boertonggu countryside of Shawan region in the Xinjiang Uygur Autonomous Region of China in 2006. The polymorphism of eNOS in the two groups was detected with polymerase chain reaction assays and the genotype frequencies in each group were calculated following the Hardy-Weinberg law. Four and five tandem 27 bp repeats were designated as "a" and "b", respectively. It was found that the frequencies of b/b, b/a and a/a genotypes of the eNOS4 gene were 84.06%, 15.22% and 0.72% in the control group, and 81.46%, 15.89% and 2.65% in the hypertension group, respectively. The frequencies of gene "b" and "a" were 91.67% and 8.33% in the control group and 89.40% and 10.60% in the hypertension group, respectively. It was found that plasma eNOS activity was not associated with genotypes and alleles of eNOS gene. Plasma eNOS activity in the hypertension group was significantly decreased compared with the control group (P<0.01). The results suggest that eNOS4 gene polymorphisms are unlikely to be the major genetic susceptibility factors for essential hypertension in the Xinjiang Kazakh population. However, a positive association between plasma eNOS activity and essential hypertension has been revealed.     

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.     

蒙古绵羊和哈萨克绵羊MHC-DRB3基因外显子2的多态性

采用PCR RFLP方法对蒙古绵羊和哈萨克绵羊MHC DRB3 基因第 2外显子 2 85bp的扩增产物进行多态性分析 ,共检测到 17种基因型 ,由A、B、C、D、E、F和H共 7个复等位基因控制。通过酶切图谱分析表明 ,蒙古绵羊和哈萨克绵羊的MHC DRB3 基因第 2外显子的第 15 4、16 8和 2 2 0位的碱基表现出多态性。统计分析表明 ,MHC DRB3 基因的部分基因型频率和等位基因频率在两个群体之间差异显著或极显著 (P <0 10、P <0 0 5或P <0 0 1)。χ2 适合性检验结果表明 ,蒙古绵羊和哈萨克绵羊的MHC DRB3 基因第 2外显子的HaeⅢ酶切位点均未达到Hardy Weinberg平衡状态 (P <0 0 1)。     

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χ2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 Kpn I 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。 Abstract:To investigate the genetic polymorphism of the Kpn I site in the α-L-iduronidase(IDUA) gene from a Han population in southern China and to study the mode of transmission of alleles, PCR-RFLP was used to analyze 324 chromosomes from 162 Chinese unrelated healthy Han individuals, and the analysis of the genotypes of 16 members in five families. To compare the frequencies and heterzygosity between Chinese Han population and Caucasians in Western by using χ2test. The frequency of allele 1 (450bp) was 0.17,allele 2 (390 plus 60 bp) 0.83, the heterozygosity was 29%.The genotypes of each member of all families detected was completely agreement with the theorical assessment. The locus of Kpn I in the IDUAgene from Han population has polymorphism. There is no significant difference between Chinese Han population and Caucasians in Western countries. The transmission of alleles was agreement with the Mendelian genetic law.     

IGFBP3基因多态性与秦川牛部分屠宰性状的相关性 Polymorphisms of Insulin-like Growth Factor Binding Protein 3 Gene and Its Associations with Several Carcass Traits in Qinchuan Cattle

以IGFBP3基因作为秦川牛（Bos taurus）部分屠宰指标的侯选基因,在对60头秦川牛的IGFBP3基因进行PCR-RFLP和序列分析的基础上,对秦川牛群体中IGFBP3基因座等位基因和基因型频率的分布及其与秦川牛部分屠宰性状的关系进行了分析。结果发现,在秦川牛群体中,651 bp的PCR 产物经过限制性内切酶HaeIII消化后,表现出3种基因型,其中等位基因A、B及3种基因型AA、AB、BB的频率分别为0.84、0.16和070、0.28、0.02。经序列分析发现,第299位的C→A颠换（GGCC变成了GGAC）导致了1个HaeIII限制性酶切位点的丢失而产生了该基因座多态性。在所研究的群体中,该多态基因座处于Hardy-Weinberg平衡状态（P＞005）。对13头24月龄秦川牛进行屠宰分析,发现不同基因型对秦川牛部分屠宰指标有一定影响,AA、AB及BB型个体的屠宰率、净肉率及西冷、牛柳、眼肉和嫩肩肉的产率逐渐降低,但差异不显著（P＞0.05）;AA型个体的眼肌面积大于BB型个体（P＜0.05）,AB型和BB型个体胴体脂肪含量高于AA型个体（P＜0.01）。 Abstract:DNA samples from 60 Qinchuan cattle (Bos taurus) were analyzed with PCR-RFLPs and sequencing for insulin-like growth factor binding protein 3 (IGFBP3) gene.Fragments of 651 bp were amplified with two primers and the products of PCR were digested with restriction endonuclease HaeIII.The produced fragments showed three genotypes,namely AA,AB and BB after electrophoresis.Frequencies of the genotype AA,AB,BB and allele A,B were 0.7,0.28,0.02,and 0.84,0.16,respectively.Sequence analysis showed that a transversion of C→A at 299 nt resulted in loss of the cleaved site of restriction endonuclease HaeIII and produced this polymorphism.This polymorphic locus of IGFBP3 gene was at Hardy-Weinberg equilibrium (P＞0.05).The genotypes of AA,AB,BB slightly affected several slaughter and carcass traits of Qinchuan cattle.Dressing percentage,net meat percentage,striplion percentage,tenderloin percentage,ribeye percentage and tender shoulder percentage were decreased with the genotypes of AA,AB and BB in Qinchuan cattle,but it was not significant (P＞0.05).Average ribeye area in individuals of AA genotype was significantly higher than that in individuals of BB genotype (P＜0.05),and beef fat content in individuals of genotype AB and BB was significantly higher than that in individuals of AA genotype (P＜0.01).     

猪Mu阿片受体基因单核苷酸多态性分析

Mu阿片受体（简称MOR）属于G蛋白藕联受体,分布在痛觉传导区,以及与情绪和行为有关的区域,影响动物的神经反应和行为表现。该研究以长白猪、大白猪和杜洛克猪为试验材料, 用8对引物对Mu阿片受体基因的5′ UTR区域、整个编码区和3′ UTR区域用PCR-SSCP方法进行了扫描,发现5处突变基因座（GenBank登录号：AF521309）。统计结果发现基因型频率分布与品种有关,大白猪突变基因型频率显著高于长白和杜洛克,本研究推测分布上的差异可能是由于长期的选择压力造成的。 Abstract:Mu opioid receptor (MOR) is a member of G protein-coupled receptor family,distributed in the pain transduction region in the brain and related to emotion and behaviour.This study was designed to investigate the Single Nucleotide Polymorphism (SNP) of Mu opioid receptor gene in various breeds,including duroc,landrace and Yorkshire.5′ UTR ( untranslate region),coding region and 3′ UTR of Mu opioid receptor gene were amplified by eight pairs of primers,and the Single Nucleotide Polymorphism (SNP) were detected by SSCP.Five polymorphisms were found (Genebank Accession number:AF521309).The results of χ2 test showed that the frequencies of genotypes in different breeds were significantly different (P＜0.01).The frequencies of mutation genotypes in Yorkshire were significantly higher than Duroc and Landrace.According to the above results,we can speculate the difference of the frequencies of genotypes may be the results of long term choice pressure.     

新疆四个民族八对遗传性状的基因频率

在调查新疆维吾尔、哈萨克、柯尔克孜、塔吉克族8对遗传性状的基础上分别计算出8对遗传性状在上述4个民族中的基因频率, 并进行了4个民族之间基因频率的比较。比较结果表明:塔吉克与其他3个民族之间基因频率的差异显著,而哈族与柯族之间的差异不显著。 Abstract:Acoording to the investigation of eight pairs of genetic traits among four minorities in Xinjiang (Uygur,Kazak,Kirgiz and Tajik),the gene frequencies of these traits were respectively calculated and compared.The results indicated that the difference of gene frequencies between Tajik and other three populations significant,while it is insignificant between kazak and Kirgiz.     

载脂蛋白E基因多态性与动脉粥样硬化性脑梗塞关系的研究

应用聚合酶链反应(PCR)扩增ApoE基因外显子4中编码112位和158位氨基酸的 DNA片段,将该长为292bp的PCR产物以HhaI酶切,根据其限制性片段长度多态性图谱确定ApoE基因型。对广东汉族人群的50例动脉粥样硬化脑梗塞(ACI)患者和50例健康对照者的ApoE基因多态性频率的研究结果表明:所研究的人群中,ApoE基因多态性频率与ACI没有关联。ACI患者中各基因型亚组之间血清TG和TC浓度无显著性差异。 Abstract:The polymerase chain reaction(PCR)and restriction fragment length polymorphism techniques(RFLPs)were used to study the relation between apolipoprotein E gene polymorphism and atherosclerotic cerebral infarction(ACI).A 292 bp DNA fragment containing codes for the 112 and 158 amino acid residues in the fourth exon of ApoE gene was amplified by PCR.The PCR products were digested with HhaI.The polymorphism patterns of Apo E gene,allele frequencies in 50 Chinese healthy and 50 patients with ACI,and the serum levels of TG and TC in the different subgenotypes of 50 patients with ACI were detected.,no statistical significant differences of alleles frequencies were found between the cases with ACI and the control,and no statistical significant differences of the serum levels of TG and TC were found among the different subgenotypes of 50 patients with ACI.These results suggested that ApoE gene polymorphism was not associated with the development of ACI.     

广东少数民族Morquio综合征StuI位点的RFLP分析

研究广东少数民族群体GALNS基因StuI位点的遗传多态性以及该位点等位基因片段传递的规律,为今后的连锁分析打下基础。采用PCR-RFLP方法,对72例无血缘关系的健康广东少数民族个体的144条染色体和3个家系9位成员的18条染色体进行检测,然后用χ2检验进行统计学处理。等位基因片段D1的频率为0.70, D2为0.30,杂合率为29%,D1、D2的传递规律与理论上预计的完全符合。广东少数民族群体中StuI位点具有多态性,其基因频率（D1和D2）与国外高加索群体的有显著差别,与日本群体及中国南方汉族群体的则无显著差别;而杂合率与高加索群体及日本群体的均有显著差异,但与中国南方汉族群体的则无显著差异。 Abstract:To investigate the genetic polymorphism of the StuI site in the GALNS gene from a national minority population in Guangdong and to study the mode of transmission of alleles,PCR-RFLP was used to analyze 144 chromosomes from 72 Guangdong unrelated healthy national minority individuals,and the genotypes of members in three families.To compare the frequencies and heterzygosity between Guangdong national minority people and Caucasians,Japanese and Chinese Han people by using χ2 test.The frequency of allele D1(295bp) was 0.70,allele D2(138 plus 157 bp)0.30,the heterozygosity was 29%.The genotypes of each member of all families detected were completely agreement with the theorical assessment.The site of StuI in the GALNS gene from national minority population in Guangdong has polymorphism.There is significant difference between Guangdong national minority population and Caucasians in Western countries,but no significant difference was found between Guangdong national minority population and Japanese and Chinese Han population.In addition,there is significant difference between Guangdong national minority population and Caucasians and Japanese in the heterzygosity,but no significant difference between Guangdong national minority population and Chinese Han population.The transmission of alleles was completely in agreement with the Mendelian genetic law.     

磺酰脲类受体基因多态性与2型糖尿病的相关性研究

研 究磺酰脲类受体1（SUR1）基因外显子16-3c/t多态性在中国某南方汉族人群中是否为2型糖尿病的致病基因座。采用聚合酶链反应-限制酶酶切片段长度多态性（PCR-RFLP）方法对南方汉族46个2型糖尿病高发家系成员的SUR1基因外显子16的多态性进行分析。利用Mantel-Haenszel分层分析研究该基因座多态性与2型糖尿病的关系。在高发家系人群中,SUR1基因外显子16-3c/t多态性的基因型频率为：cc型29.3%、ct型507%、tt型20%,c等位基因频率为54.7%;患者组基因型频率为：cc型30.2% 、ct型53.8%、tt型16.0% ,c等位基因频率为57.1% ;未患病亲属组基因型频率为：cc型28.3% 、ct型47.2%、tt型24.5%,c等位基因频率为519%,两组间基因型和等位基因的差异经检验无统计学意义（分别为χ2=3.224,P=0.199;χ2=1.250,P=0264）。在性别、吸烟、饮酒、肥胖、高血压等混杂因素中的频率差异亦无显著性。c等位基因频率低于北方汉族人。在中国某南方汉族2型糖尿病高发家族人群中,未发现SUR1基因外显子16-3c/t多态性与2型糖尿病存在关联,该基因座可能不是该人群的致病基因。 Abstract:To study whether the 3c/t polymorphism of the sulfonylurea receptor 1 (SUR1) gene exon16 increased the risk of type 2 diabetes mellitus in type 2 diabetes mellitus pedigrees in Han population in south area of China.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used in 46 type 2 diabetes mellitus pedigrees.The polymorphism in SUR1 was tested and analyzed by Mantel-Haenszel χ2 test.Frequencies of SUR1-3c/t polymorphism had no significant difference between type 2 diabetes mellitus and normal relatives（genotypes χ2=3.224,P=0.199;frequency of allele χ2=1.250,P=0.264）.In all subjects,type 2 diabetes mellitus and normal relatives,SUR1-3c/t genotypes were listed (cc:29.3%,30.2%,28.3%;ct:50.7%,53.8%,47.2%;tt:20%,16.0%,24.5% respectively).The frequencies of c were 54.7%,57.1% and 51.9% respectively.The frequency of c is lower than Han population in northern China.The results show that SUR1 exon16-3c/t polymorphism is not associated with type 2 diabetes mellitus in the population.     

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.     

短串联重复序列D7S2201基因座的群体遗传学研究

用扩增片段长度多态性技术分析短串联重复序列D7S2201基因座的遗传多态性,在262个中国成都地区汉族无关个体及119个泰国曼谷地区泰人无关个体中分别发现7个和5个等位基因,首次获得该基因座在两群体中的频率分布,其等位基因片段大小范围为100～124bp。两群体的基因型频率分布均符合Hardy Weinberg平衡。该基因座在两群体中的个人识别能力（PD）、杂合度（H）、多态性信息含量（CPI）及非父排除率（PE）分别为0.7038、0.5992、0.4789、0.2900和0.7351、0.5882、0.5012、0.2770。家系调查证实了等位基因的传递遵循孟德尔遗传规律。χ2检验表明两群体间等位基因频率分布无显著性差异。 Abstract：The polymorphism of a new short tandem repeat (STR) locus D7S2201 was analyzed by using AmpFLP. Seven alleles were observed in 262 unrelated Chinese individuals living in Chengdu and five alleles in 119 unrelated Thai individuals living in Bangkok, the ranges of fragment size were 100～124bp. The genotypes distributions of D7S2201 locus in the two populations were in accordance with Hardy Weinberg equilibrium. The discriminating power (PD), observed heterozygosity (H), polymorphism information content (CPI) and power of exclusion (PE) were 0.7038, 05992, 04789, 02900 in Chinese population and 0.7351, 0.5882, 0.5012, 0.2770 in Thai population respectively. Family studies confirmed Mendelian inheritance of alleles. No significant difference was observed between the two populations.     

飞行员中血管紧张素转换酶基因插入或缺失多态性研究

为了解飞行员血管紧张素转换酶(ACE)基因插入或缺失（I/D）多态性情况,探讨ACE基因多态性与飞行员耐力可能的关系,用聚合酶链反应（PCR）扩增技术检测118例飞行员和96例健康对照者的ACE基因I/D多态性。 结果位于ACE基因内含子16的I/D多态性经PCR扩增后呈三种基因型：纯合子插入型（II）、纯合子缺失型（DD）和杂合子插入或缺失型（I/D）。飞行员组II基因型（44.07%）和I等位基因频率（0.65）显著高于健康对照组(分别为31.25%和0.52)。 结果表明ACE I基因有可能在飞行员的飞行耐力中起重要作用。 Abstract:In order to understand insertion/delation (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene in pilots,and to explore the relationship between ACE gene I/D polymorphism and the perfomance of the pilots,the polymerase chain reaction (PCR) was used to determine the genotypes for an I/D polymorphism in intron 16 of the ACE gene in 118 pilots and 96 healthy subjects as controls.The result showed that the I/D polymorphism in intron 16 of the ACE gene was categorized into three genotypes: two deletion alleles (genotype DD),heterozygous alleles (genotype ID),and two insertion alleles (genotype II).The genotype II and I allele frequency were significantly higher in pilots (44.07% and 0.65) than that in healthy subjects (31.25% and 0.52).It is suggested that I gene of ACE may play a role in perfomance of the pilots.     

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.     

广东省汉族人群的亚群分析

为调查广东地区汉族人群中是否存在着亚群结构,对来自广州、佛山、东莞、江门和中山-珠海5个不同地区的471随机个体血样本进行15个STR的基因分型,并作Hardy-Weinberg平衡检验,比较群体之间的等位基因频率,计算这个5个地区人群间的共祖系数。结果显示,广东汉族人群没有明显的Hardy-Weinberg不平衡,5个地区人群的等位基因分布均没有差异,他们之间的共祖系数小于0.01。因此,广东地区汉族人群中没有明显的亚群结构。 Abstract:To investigate the subpopulation structure within the Han Population in Guandong area,a total of 471 DNA samples from five populations in Guandong Province,including Guangzhou,Foshan,Dongguan,Jiangmen and Zhongshan-Zhuhai region,were genotyped at 15 STR(short tandem repeats) markers.Hardy-Weinberg tests were performed,allele frequencies were compared,and the genetic coancestry coefficient(FST ) was estimated.The results did not show significant departure from Hardy-Weinberg equilibrium in the total population.Difference of allele frequencies among these populations was not observed,and the coancestry coefficient(FST)was less than 0.01.Subpopulation structure within Han Population in Guandong Province could not be detected.     

中国17个人群中的耵聍基因频率及干型基因地理分布图

报道了中国17个人群的干型耵聍基因频率,其中汉族人群8个,少数民族人群8个,还有一个未识别民族,即西藏聂拉木县的夏尔巴人。发表了我国汉族人群中以及汉族与少数民族中干型耵聍基因频率的地理分布图。干型耵聍基因在17个人群中的频率及两张基因频率地理分布图都进一步证明,中国汉族与少数民族 (新疆信仰伊斯兰教的少数民族除外)之间有许多基因流动、干型耵聍基因起源于东北亚。中国人群中干型耵聍基因的Fst应在0.1057与0.1602之间。 Abstract:Gene frequencies of serumen type of 17 populations in China are reported,including 8 Han subpopulations,8 ethnic minorities and 1 un-identified ethnic group,the Sherpas in Nyalam County,Tibet.Gene-frequency-distribution maps of dry serumen in Han,as well as in Han and ethnic minorities of China were also published.The gene frequency data of 17 populations and their distribution maps once again showed that there was a large-scale gene exchange between Han and ethnic minorities,my be,with the exception of Moslem ethnic groups in Xinjiang,and that the dry serumen gene originated in Northeast Asia.The Fst of dry serumen gene in Chinese populations as a whole was estimated to be between 0.1057 and 0.1602.     

采用RAPD标记探讨瓣蕊唐松草(毛茛科唐松草属)的遗传多样性及其地理分布格局(英文)

Random amplified polymerphic DNA(RAPD)method was applied to assessg enetic variation and population structure of Thahctrum petalotdeum L(Ranunoulaceae),Two hundred and forty-six individuals from 11 populations of the species were investigated by RAPD profiles Twenty selected RAPD primers generated 125 bands．in which 120 were polymorphic Ther esults revealed a high level of genetic variation(ercentage of polymorphIc bands(PPB was 96％．Nei’s gene diversity(りwas 03502 and shannon’s information index(I) was 0．5199 at the species level) The differentiation among the populations was high(Gst=0．3511)in this species．Result of analyzing of molecularvariance(AMOVA)showedthat38．88％of genetic variance was found among the populations Positive correlation withr r=01945(P=00002)was found between genetic distance and geographic distance amongpo pulations Two populations distributed in the drainage basin of YanELz River affined genedcally and formed one clada and the rest nine populations formed the other clade in both unweighted pair-group method using arithmetic average(UPGMA)trees made by two different method different methods. It was yen/clear that these two populations were very special, andmust be closely related in history, despite the fact that they now share quite weak link to the restpopulations through gene communication.     

新疆维吾尔族HLA-Cw基因座遗传多态性调查 The Study of HLA-Cw Polymorphism in Uygur Population

采用序列特异性寡核苷酸探针杂交技术（PCR-SSOP）对146位新疆维吾尔族无关个体HLA-Cw基因座进行基因分型,研究该民族HLA-Cw基因座遗传多态性,建立新疆维吾尔族HLA-Cw基因频率数据库。检出18种等位基因,基因频率分布在0.0069~02460,其中HLA-Cw*04、07、08、14基因频率比较高,基因频率分别为02460、0.1151、0.1010、0.1202,共占新疆维吾尔族可检出等位基因的58.23%,PCR-SSOP分型技术使新疆维吾尔族HLA-Cw基因座空白基因频率降至0.0064。经χ2检验,基因型分布符合Hardy-Weinberg平衡定律。建立民族HLA-Cw基因座基因频率数据库,为临床器官移植配型、人类学、法医学提供重要的群体遗传学资料。 Abstract:The HLA-Cw loci polymorphism in Uygur population was investigated using the PCR- sequence specific oligonucleotide probe (SSOP) method,and the genetic database on the distribution of gene frequency of the HLA-Cw loci was established.From 146 individuals of Uygur population,18 HLA-Cw alleles were detected.The gene frequency was from 0.0069 to 0.2460.The four most common alleles were HLA-Cw*04(24.60%)、07(11.51%)、08(1010%)、14(12.02%),and they covered 58.23% of total alleles detected from Uygur population.We have made a survey of HLA-Cw alleles frequencies in a Uygur population,with blank frequency being lowered to 0.0064.The distribution of genotype frequencies met the law of Hardy-Weinberg equilibrium by hi-square test.The frequency data can be used in forensic and paternity tests to estimate the frequency of a DNA profile in the Uygur population,transplant matching and anthropology.     

猪LHβ亚基基因的单核苷酸多态性研究

本研究对猪LHβ亚基基因除上游调控区以外的序列进行了SSCP分析,结果发现在该基因的3个外显子和3′调控区内没有任何SNPs位点,仅在内含子1的1367位点和内含子2的1823位点发现2个多态性位点,并对这两个位点在二花脸、约克夏和长白猪3个群体中的基因频率进行了初步分析。 Study on the Single Nucleotide Polymorphisms of the Porcine LHβ Gene WANG Ai-hua1,LI Ning2,WU Chang-xin1 1.College of Animal Science and Technology,China Agricultural University,Beijing 100094; 2.National Laboratory of AgroBiotechnology,China Agricultural University,Beijing 100094 Abstract:SSCP analysis was commanded on the whole sequence of porcine LHβ gene except the upstream control region.No polymorphic site was found in the 3 exons and 3′control region.But there were 2 polymorphic sites in the 1367 site of intron 1 and 1823 site of intron 2.The gene frequencies of the 2 sites in the Erhualian,Yorkshire and Landrace populations were analyzed. Key words：LHβ gene;SNPs;intron;SSCP     

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.