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.     

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.     

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.     

中国东乡族9个STR基因座遗传多态性研究

选择9个STR基因座,采用四色荧光标记STR基因扫描技术,对中国甘肃省特有民族——东乡族的群体遗传多态性进行研究。同时检测94个无关个体血液样本,共检出72种等位基因,基因频率的分布在0.0053~0.5825之间;检出182种基因型,基因型频率分布在0.0106~0.2660之间;9个STR位点基因型分布均符合Hardy-Weinberg平衡定律（P＞0.05）。9个STR位点多态信息量（polymorphism information content,PIC）均大于0.6378,杂合度(heterozygosity,H) 均大于0.6500,个体识别力(discrimination power,DP)均大于0.8216,非父排除率(probabilities of paternity exclusion,PPE) 均大于 0.4903。种族比较结果显示,甘肃东乡族与白种人及黑种人在绝大多数位点存在显著差异（P＜0.05）,而9个STR位点与汉族群体的遗传差异均不显著（P＞0.05）。研究结果丰富了中华民族基因数据库,在人类群体遗传学及法医学研究领域有重要应用价值。 Abstract:Genetic distribution for nine STR loci was determined in a Chinese Dongxing ethnic group based on STR genescan marked by fluorescence.Seventy-Two alleles and 182 genotypes were observed in 94 unrelated Chinese Dongxiang individuals,with the corresponding gene frequency and genotype frequency being 0.0053~0.5825 and 0.0106~0.2660 respectively.The genotypes of nine STR loci were in accordance with the Hardy-Weinberg equilibrium (P＞0.05).The statistical analysis of nine STR loci showed PIC( polymorphism information content,PIC)≥0.6378,H(heterozygosity,H) ≥0.6500,DP (discrimination power,DP) ≥0.8216,PPE(probabilities of paternity exculation,PPE) ≥0.4903.The result indicated that there was a significant difference between Dongxiang ethnic group and the white and the black.There was no significant difference in Han nationality.These result filled the Dongxiang ethnic group-a specific group of Chinese into the genetic database and played an important role in Chinese population genetic study and forensic medicine application.     

北京和东京人群MYO9B单核苷酸多态性差异比较分析

为探讨中国北京汉族人群(CHB)和日本东京人群(JPT)肌球蛋9B(MYO9B)单核苷酸基因多态性(SNP)、单体域和单体型的差异,我们利用人类基因组单体型图(Hap Map)公布的Ⅲ期MYO9B SNP数据,通过Haploview4.2软件选择合格SNP、标签SNP(tagSNP)、估计最小等位基因频率(minimum allele frequency,MAF)及构建单体域,并比较其差异。然后通过Phase2.1软件构建特殊tagSNP位点单体型并行置换检验以比较两个人群所构建单体型的差异。研究结果表明,从CHB及JPT MYO9B中分别筛选出52个及50个合格SNP,其中49个是一致的。两人群合格SNP MAF频数最高组段及最低组段相同,且整体比较无差别(p=0.07)。于两人群MYO9B各构建7个和5个单体域,其中两个基本相同,一个单体域为CHB独有,其余在两人群分布不同但互有重叠。从两人群MYO9B分别筛选出23个及17个tagSNP,其中17个tagSNP相同,另6个SNP在CHB单独成为tagSNP而不与其他SNP相关联。利用两人群MYO9B特殊tagSNP位点共构建10个频率2%的相同的单体型,累计频率分别为51.37%和51.99%,且两者均以TCTCG和TTTCG单体型为主。两人群MYO9B特殊位点单体型构成基本相同(p=0.765)。综上所述,CHB和JPT的MYO9B SNP及单体域特征以共性为主,与人群的地域和种族属性一致;北京汉族与东京人群特殊SNP位点构建的MYO9B单体型构成及频率无差别。     

钱塘江日本沼虾野生群体遗传变异的SSR分析

利用微卫星标记分析了钱塘江干流水域闻堰、富阳、场口、桐庐等7个野生日本沼虾群体的遗传多样性和遗传结构。结果表明:10个微卫星位点呈现高度多态性;闻堰、富阳、场口、新安江等中下游野生群体的遗传多样性水平有高于歙县和休宁两个上游群体遗传多样性水平的趋势。符号检验和Wilcoxon符号秩次检验的结果表明,钱塘江日本沼虾群体近期没有发生瓶颈效应,群体数量也没有下降。FST的范围介于0.0201～0.1069。分子方差分析结果显示,大部分的遗传变异(93.48%)存在于个体间,少部分遗传变异(6.52%)存在于群体之间。群体间FST及AMOVA分析表明,群体处于中等遗传分化水平;基于DA遗传距离构建的NJ聚类树显示,地理位置相邻的群体聚在一起。STRUCTURE分析413份参试的日本沼虾样本被分为2个理论种群,即上游歙县和休宁群体为一个理想种群,其余中下游的5个群体为另一个理想种群。日本沼虾的遗传多样性和遗传结构与所生存的地理位置具有相关性。     

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.     

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.     

基于ITS序列对栽培中国樱桃遗传多样性及其群体遗传结构的分析

该研究基于ITS序列对栽培中国樱桃[Cerasus pseudocerasus(Lindl.)G.Don]18个群体共154个个体的遗传多样性及其群体遗传结构进行了分析,以期从DNA序列水平上揭示栽培中国樱桃种质资源的遗传背景,为保护和利用中国樱桃种质资源提供理论依据。结果表明:(1)154条ITS序列比对后共定义了11个单倍型,表现出较低的遗传多样性(h=0.559 0,π=0.001 2),群体间遗传多样性也表现出较大差异(h=0~0.905 0,π=0~0.006 1)。(2)群体分析显示,群体间遗传分化水平较低(FST=0.140 0),只有14%的遗传变异来自群体间,而86%的遗传变异来自群体内部。研究认为,栽培中国樱桃在驯化过程中所产生的奠基者效应以及瓶颈效应可能是导致群体遗传多样性丢失的主要原因,而较长的世代周期及较短的分化时间可能导致了群体间低的遗传分化;因此,对栽培中国樱桃种质应采取就地保护策略;若需迁地保护种质建议减少采样群体数而增加群体内个体数量的采样策略。     

北京汉族群体30个常染色体InDel位点群体遗传学及法医学研究

为了调查30个 InDel 位点在中国北京汉族人群中的群体遗传学数据, 并评估其法医学应用价值, 文章采集210名北京汉族无关健康个体外周血样, 提取样本DNA, 采用Investigator ® DIPplex 体系对HLD77等30个InDel 位点进行复合扩增, ABI3130 XL 遗传分析仪进行基因分型, 计算常用法医学参数, 分析群体遗传差异。经 Bonferroni 校正, 30个InDel 位点不存在连锁不平衡现象, 基因型分布符合Hardy-Weinberg 平衡; 各位点DP值为0.2690~0.6330, 累积个体识别力(TDP)为0.999999999985; 三联体累积非父排除率(CPEtrio)为0.98771049, 二联体累积非父排除率(CPEduo)为0.94579456。32例 STR 基因座发生突变的家系样本调查证实上述 InDel 位点未发现突变。结果表明, Investigator® DIPplex 试剂盒中包含的30个InDel 位点在北京汉族群体中具有较好的遗传多态性, 在 STR 存在突变及微量DNA检材等特殊检案中可作为有效的补充检测体系。     

山西汉族17个Y-STR基因座遗传多态性及遗传关系

为了调查山西汉族群体17个Y-STR基因座的多态性分布,探讨其群体遗传学及法医学应用价值,文章应用Y-filer TM试剂盒检测222名山西汉族无关男性个体的17个Y-STR基因座,用ABI3130遗传分析仪进行基因分型,计算等位基因频率及单倍型多样性,并结合已公开发表的国内其他13个群体相关数据资料,分析山西汉族群体遗传距离和聚类关系。结果:山西汉族个体中共检出219种单倍型,单倍型多样性为0.9999;基因多样性GD值在0.3894(DYS391)~0.9755(DYS385a/b)。从遗传距离分析发现,山西汉族与吉黑汉族之间的遗传距离最近(?0.0001),与台湾群体(0.0152)之间的遗传距离相对较远。结果表明该17个Y-STR基因座在山西汉族群体中具有丰富的遗传多态性,对建立Y染色体STR数据库、研究群体遗传学和进行法医学应用有重要意义。     

肖四海湖野生和人工放流鳜群体遗传结构分析

采用微卫星标记研究天然封闭型水体肖四海内鳜放流群体与野生群体的遗传差异,试图从分子水平探讨人工增殖放流群体与野生群体遗传结构的差异。结果表明:鳜两个群体在10对微卫星座位共发现有50个等位基因。其中,放流群体发现有22个等位基因,野生群体发现37个等位基因;通过He和PIC统计发现,野生群体遗传多样性明显高于放流增殖鳜,野生鳜群体表现出更丰富的遗传多样性;由杂合度检验可以看出,两个群体都呈现杂合过剩现象,经哈代-温伯格平衡检验,显示两个群体均显著偏离哈代-温伯格平衡(P0.001),属于连锁不平衡群体;群体间的FST检验,可以看出群体间的FST高于0.25,反映遗传变异主要存在于群体间,而不是群体内部,这充分反映近交及瓶颈效应会引起养殖群体遗传结构的改变,从而导致群体间的遗传分化。       

强直性肌营养不良症DMPK基因CTG重复序列与Alu±1kb单倍型研究

强直性肌营养不良(myotonic dystrophy,DM)是由于DMPK基因3′非翻译区CTG重复序列异常扩展所致的、主要累及神经肌肉系统的常染色体显性遗传病。在该基因的第8内含子中还存在一个Alu重复序列的1kb插入/缺失多态性,即Alu±1kb多态性。为了帮助阐明汉族人群中DM突变的起源,并为解释DM在不同群体中发病率的差异提供更多依据,本文从300例已知CTG拷贝数的正常汉族群体中随机挑选60例,首先通过PCR扩增确定其Alu±1kb多态性,然后对Alu±1kb和CTG双杂合的标本,采用长PCR方法先行扩增含Alu±1kb和CTG重复序列的DNA片段,再分别对含Alu(＋)和Alu(－)的DNA片段中的CTG拷贝数进行常规PCR分析,以确定二位点的单倍型。结果表明60例正常人中二位点间呈连锁不平衡。其单倍型为:（CTG）5均与Alu(＋)连锁;多数(CTG)11～14与Alu(－)连锁;在两个(CTG)≥19的等位基因中一个与Alu(＋)连锁,另一个与Alu(－)连锁。各民族相关资料的比较提示,汉族人群中(CTG)11～14与非洲黑人的起源可能不同;(CTG)19～30/Alu－1kb在汉族人群中的频率远比欧洲人群的高;(CTG)19～30/Alu－1kb与(CTG)19～30/Alu＋1kb在汉族人群中是以一定比例共存的;(CTG)19～30在不同民族间的起源不尽相同;如果从(CTG)5到(CTG)19～30的假设成立的话,则很可能是一个较为复杂的过程。 Abstract：Myotonic dystrophy(DM),an autosomal dominant disease of the neuromascular system,is caused by expansion of the CTG repeats in the 3＇untranslated region of the DMPK gene.In the eighth intron of this gene,there is another polymorphism－the insertion/deletion of 1kb Alu repeat(Alu±1kb).In order to help elucidate the origin of DM mutation in Chinese Han patients,and explain the difference of incidence of DM in different populations,60 normal Han individuals were randomly chosen from 300 Chinese,whose CTG copy number had been previously ascertained.The polymorphism of Alu±1kb of the 60 cases were firstly analyzed by in vitro amplification;then the 22 cases in which both sites were heterozygous were analyzed as following:the fragments containing both Alu±1kb and CTG repeat sequence were first amplified by long PCR method;and then the CTG copy numbers were analyzed in the Alu(＋)and Alu(－)alleles.In the 60 cases studied,a remarkable linkage disequilibrium between CTG triplet repeats and Alu±1kb were observed.All the(CTG)5 alleles were linked with Alu(＋),and most of the(CTG）11－14 alleles were linked with Alu(－);one of the two alleles of(CTG）≥19 was linked with Alu(＋),the other was linked with Alu(－).This suggests that the origin of(CTG)11－14 in Chinese Han may be different from that of African Blacks;the frequency of (CTG)19－30 /Alu－1kb in Chinese Han might be much higher than that in Europeans Caucasians.The(CTG)19－30/Alu－1kb and(CTG)19－30/Alu＋1kb coexist in Chinese Han in some proportion;the origin of (CTG)19－30 in different population may be different;if the hypothesis of(CTG)5 to(CTG)19－30 is true,then the progress should have been a relatively complicated process.     

强直性肌营养不良症DMPK基因CTG重复序列与Alu±1kb单倍型研究

强直性肌营养不良(myotonic dystrophy,DM)是由于DMPK基因3′非翻译区CTG重复序列异常扩展所致的、主要累及神经肌肉系统的常染色体显性遗传病。在该基因的第8内含子中还存在一个Alu重复序列的1kb插入/缺失多态性,即Alu±1kb多态性。为了帮助阐明汉族人群中DM突变的起源,并为解释DM在不同群体中发病率的差异提供更多依据,本文从300例已知CTG拷贝数的正常汉族群体中随机挑选60例,首先通过PCR扩增确定其Alu±1kb多态性,然后对Alu±1kb和CTG双杂合的标本,采用长PCR方法先行扩增含Alu±1kb和CTG重复序列的DNA片段,再分别对含Alu(＋)和Alu(－)的DNA片段中的CTG拷贝数进行常规PCR分析,以确定二位点的单倍型。结果表明60例正常人中二位点间呈连锁不平衡。其单倍型为:（CTG）5均与Alu(＋)连锁;多数(CTG)11～14与Alu(－)连锁;在两个(CTG)≥19的等位基因中一个与Alu(＋)连锁,另一个与Alu(－)连锁。各民族相关资料的比较提示,汉族人群中(CTG)11～14与非洲黑人的起源可能不同;(CTG)19～30/Alu－1kb在汉族人群中的频率远比欧洲人群的高;(CTG)19～30/Alu－1kb与(CTG)19～30/Alu＋1kb在汉族人群中是以一定比例共存的;(CTG)19～30在不同民族间的起源不尽相同;如果从(CTG)5到(CTG)19～30的假设成立的话,则很可能是一个较为复杂的过程。 Abstract：Myotonic dystrophy(DM),an autosomal dominant disease of the neuromascular system,is caused by expansion of the CTG repeats in the 3＇untranslated region of the DMPK gene.In the eighth intron of this gene,there is another polymorphism－the insertion/deletion of 1kb Alu repeat(Alu±1kb).In order to help elucidate the origin of DM mutation in Chinese Han patients,and explain the difference of incidence of DM in different populations,60 normal Han individuals were randomly chosen from 300 Chinese,whose CTG copy number had been previously ascertained.The polymorphism of Alu±1kb of the 60 cases were firstly analyzed by in vitro amplification;then the 22 cases in which both sites were heterozygous were analyzed as following:the fragments containing both Alu±1kb and CTG repeat sequence were first amplified by long PCR method;and then the CTG copy numbers were analyzed in the Alu(＋)and Alu(－)alleles.In the 60 cases studied,a remarkable linkage disequilibrium between CTG triplet repeats and Alu±1kb were observed.All the(CTG)5 alleles were linked with Alu(＋),and most of the(CTG）11－14 alleles were linked with Alu(－);one of the two alleles of(CTG）≥19 was linked with Alu(＋),the other was linked with Alu(－).This suggests that the origin of(CTG)11－14 in Chinese Han may be different from that of African Blacks;the frequency of (CTG)19－30 /Alu－1kb in Chinese Han might be much higher than that in Europeans Caucasians.The(CTG)19－30/Alu－1kb and(CTG)19－30/Alu＋1kb coexist in Chinese Han in some proportion;the origin of (CTG)19－30 in different population may be different;if the hypothesis of(CTG)5 to(CTG)19－30 is true,then the progress should have been a relatively complicated process.     

赣南地区汉族人群29个Y-STR基因座的遗传多样性及系统进化分析

研究赣南地区汉族人群29个Y-STR基因座的遗传多态性以及与国内多个民族群体的遗传关系,探讨其在群体遗传学和法医学中的实际应用价值。采用DNATyperTM Y29试剂盒对1532例赣南地区健康男性无关个体进行Y-STR基因座扩增,3730型遗传分析仪进行毛细管电泳检测,运用GeneMapper IDX1.4软件对数据结果进行Y-STR分型,计算29个Y-STR基因座的等位基因频率及单倍型频率等遗传学参数。应用Mega-X软件对选取的群体构建进化树,用YHRD在线工具软件的分子方差分析(AMOVA),计算群体间遗传距离,同时构建多维尺度图(MDS)。经分析,29个Y-STR基因座在赣南汉族人群中的基因多样性(GD)值范围为0.3815~0.8766,除了DYS508、DYS437、DYS391和DYS438基因座外,其余25个基因座GD值均高于0.5,且单倍型多样性为0.999924,表明29个Y-STR基因座在赣南汉族人群中有较高的遗传多态性。与其他地区汉族人群比较,赣南汉族与福建汉族遗传距离最近(遗传距离Rst值是0.0002),与黑龙江汉族遗传距离最远(Rst值是0.0249);与其他地区少数民族人群比较,赣南汉族与云南白族遗传距离最近(Rst值是0.0059),与甘孜藏族遗传距离最远(Rst值是0.4689)。研究表明,这29个Y-STR基因座在赣南汉族人群中具有较好的遗传多态性分布,能够满足家系排查及法医学检案的要求,所得的数据可为该地区的群体遗传学和法医学研究与应用提供基础数据支持。     

闽江水系绒螯蟹的表型性状差异与分子遗传差异的比较与分析

表型性状差异(differentiation in phenotypictraits,PST)和分子遗传差异(differentiation at neutral molecular markers,FST)是近期进化生物学的研究热点之一。闽江水系是我国中华绒螯蟹与合浦绒螯蟹的主要混杂地域,是研究绒螯蟹遗传与进化的理想地之一。为探讨闽江水系绒螯蟹的PST和FST,以2009和2010年度闽江水系的133个绒螯蟹样本为材料,进行了14个表型数量性状差异分析和6个微卫星标记的遗传差异分析。结果发现:除3个表型性状不存在显著差异外,其他表型性状在不同年份间均存在极显著差异(P<0.01);2009年绒螯蟹的平均期望杂合度极显著高于2010年绒螯蟹(P=0.008),而平均等位基因丰富度、观测杂合度和近交系数均不存在显著差异(P=0.136～0.675);年份间的平均FST为0.1429;通过对PST与FST的比较发现,除第二步足掌节长度(F2)性状外,其他表型数量性状的PST值均高于FST值,表明这些性状均受到了较明显的选择压力。该文研究结果为绒螯蟹的分子进化研究积累了资料,也为其他水产生物的PST和FST比较研究提供了参考。     

Human leukocyte antigen-DP loci are associated with the persistent infection of hepatitis B virus in Chinese population

A genome-wide association study recently showed that genetic variants in human leukocyte antigen (HLA)-DP loci were strongly associated with a risk of persistent infection of hepatitis B virus (HBV) in Japanese and Thai individuals and variants in interleukin 28B (IL-28B) have been associated with responses to anti-hepatitis C virus (HCV) treatment. The aim of this study was to investigate whether the HLA-DP loci and IL-28B were associated with different outcomes of chronic HBV infection (CHB) in Chinese subjects. The rs9277535 near HLA-DPB1,rs3077 near HLA-DPA1, and rs12979860 genotype near IL28B were genotyped by direct sequencing in 185 CHB patients and 193 self-limited hepatitis B virus (SLHBV)-infected subjects who recovered from HBV infection. The rs9277535 near HLA-DPB1 was strongly associated with CHB (P=0.0000181, OR=1.905). This association was observed independent of HBV e antigen (HBeAg) status and HBV viral loads in HBeAg-positive patients (P=0.0004, OR=1.956), in HBeAg-negative patients (P=0.0009, OR=1.857), and in HBeAg-negative individuals without detectable levels of HBV DNA in serum (P=0.0011, OR=2.05). The rs3077 near HLA-DPA1 was associated with CHB (P=0.0206, OR=0.6865) and HBeAg-positive infection status (P=0.0143, OR=0.6047). Meanwhile, a genetic variation of insertion-deletion (INDEL) polymorphism (rs361527, -/ATAAATGTTGA) near HLA-DPA1 was found to be associated with CHB (P=0.0307, OR=0.7028) and HBeAg-positive CHB infection status (P=0.0233, OR=0.619). However,the rs12979860 genotype near IL28B had no correlation with CHB. This study demonstrated that in the Han Chinese populations, HLA DP loci, but not IL-28B, was associated with persistence of infection in different outcomes of HBV infected patients; however, the mechanism needs to be further investigated.     

基于nad5的西施舌漳州群体遗传分化水平分析——以蛤蜊属2个物种差异水平为参照

扩增了西施舌日照、连云港、北海、漳州4个野生群体、四角蛤蜊和中国蛤蜊各1个群体共73个样本的NAD5基因片段,测序获得了480bp核苷酸序列,分析核苷酸的多态性,旨在评估福建漳州西施舌与日照、连云港、北海西施舌之间的分化水平。结果:从73个序列中共检测到44种单倍型(Hap),其中西施舌4个群体有29种Haps,四角蛤蜊和中国蛤蜊分别有10种和5种Haps,漳州群体与北海、日照、连云港群体单倍型有明显差异;将西施舌分为北海、日照、连云港组(GP1)和漳州组(GP2)2个组,分析核苷酸差异,GP1与GP2间的T、A、G含量差异极显著(P0.01)。GP1与GP2间的遗传距离与组内(GP1、GP2)遗传距离之比为25.1—41.8,四角蛤蜊与中国蛤蜊之间的遗传距离与种内个体间遗传距离之比为24.4—36.7,GP1、GP2间的差异达到了四角蛤蜊和中国蛤蜊种间差异水平,而日照、北海群体间的遗传距离只有0.009,北海与日照群体地理位置虽远,但遗传差异则很小;AMOVA分析显示漳州西施舌发生了极显著遗传分化(FST=0.966—0.978,P0.01)。     

北方汉族人群8个多拷贝Y-STR基因座的遗传多态性

为分析8个多拷贝Y-STR基因座在北方汉族群体中的遗传多态性和突变率,并同其他群体进行群体间差异分析,探讨其法医学和群体遗传学研究的应用价值。采用复合扩增体系对508名北方汉族无关男性个体和156对父子的8个多拷贝Y-STR基因座进行扩增,应用ABI3730分析仪进行基因分型,采用相应软件计算基因(单倍型)频率、基因多态性和突变率并对群体间差异进行分析;北方汉族群体的8个多拷贝Y-STR基因座的基因多态性普遍较高,基因多态性在0.673 8(DYS389I)~0.968 8(DYS464)之间,共检出484个单倍型,单倍型多态性为0.9998,家系调查中共发现5次基因突变,其中,各个基因座的每代突变率在0~9.62×10~(-3)(DYS535)之间,总平均突变率为1.60×10~(-3)(95%CI 0.5-3.7×10~(-3));群体间比较显示:8个基因座的遗传多态性在群体间存在差异,遗传距离在0.001 64~0.098 02之间。北方汉族群体的8个多拷贝Y-STR基因座的基因多态性普遍较高,适合应用于法医学个体识别和亲权鉴定中。