贵州汉族,苗族,布依族和水族人群线粒体DNA多态性研究

本文运用１６种限制性内切酶对来自贵州的汉族、苗族、布依族和水族的１５０个样本进行了ｍｔＤＮＡ的限制性片段长度多态性（ＲＦＬＰ）分析。共检测到３１种限制性格局（Ｒｅｓｔｒｉｃｔｉｏｎｐａｔｔｅｒｎ）,其中ＨａｅＩＩ－１３型、ＥｃｏＲＶ－３型和ＰｓｔＩ－４型３种限制性格局为新报道综合这些限制性格局,共得出２８种ｍｔＤＮＡ类型（ｍｔＤＮＡｔｙｐｅ）。运用ＵＰＧ法和简约法分析了各ｍｔＤＮＡ类型之间、各人群之间的聚类关系,结果表明：水族人群的ｍｔＤＮＡ变异度较大;汉族和苗族的亲缘关系最近,布依族和水族有着较远的亲缘关系。     

中国蒙古马与国外纯血马mtDNA D-Loop高变区序列比较

比较分析了4匹中国蒙古马和4匹国外纯血马的线立体DNA（mtDNA）D-Loop高变区400bp核苷酸序列的变异情况。结果发现,4匹中国蒙古马mtDNA D-Loop高变区的平均核苷酸变异率为3.69%,而纯血马的为4.00%,其核苷酸变异类型均包括转换、颠换和缺失3种形式,其中以转换最为常见。核苷酸变异基因座多,并且存在长度变异,不同变异在个体之间差异也很大,因此说明中国蒙古马和国外纯血马的mtDNA D-Loop高变区都具有丰富的多态性。Abstract：Mitochondrial DNA D-Loop varied region 400bp sequence variations in 4 Chinese Mongolian horses and 4 External Thoroughbred horses were analyzed in this experiment. The results showed that the average nucleotide mutational rate of mtDNA D-Loop varied region in 4 Chinese Mongolian horses was 3.69%,while External Thoroughbred horses were 4.00%. Three types of mutations including transition,transversion and deletion were all found in the investigated mtDNA D-Loop regions,of which transition was the most frequent. Nucleotide mutational loci were abundant,length mutations were found and great differences were all observed among the 8 horses. It showed there existed much polymorphism in the mitochondrial DNA D-Loop varied region of Chinese Mongolian horses and External Thoroughbred horses.     

北京汉族群体39个短串联重复序列基因座多态性及其遗传关系

本文首次对北京地区汉族人群的13个CODIS(Combined DNA index system)和26个非CODIS系统STR基因座的遗传多态性进行了研究,建立了北京地区汉族人群39个STR基因座的群体遗传多态性数据库并对其法医学应用价值进行了评价。39个STR基因座的基因型分布均符合Hardy-Weinberg平衡且各基因座之间均不存在连锁现象,个体鉴别力(Power of discrimination, DP)在0.7740~0.9818之间,期望杂合度(Expected heterozygosity, He)在0.6000~0.9350之间,多态性信息含量(Polymorphism information content, PIC)在0.5317~0.9047之间,非父排除率(Power of exclusion, PE)在0.2909~0.8673之间,累积个体鉴别力(Cumulative probability of discrimination, CDP)为0.999999999999999999999999999999999999999964971,累积非父排除率(Cumulative probability of exclusion, CPE)为0.999999999973878。另外,结合已公开报道的国内其他11个群体相应基因座的遗传资料,根据等位基因频率计算遗传距离,构建了系统发生树。本研究可为中国法医DNA数据库和群体遗传学数据库提供重要的基础数据,对北京地区汉族人群开展法医学个体识别、亲权鉴定和遗传学研究具有重要的意义。     

贵州汉族人群HLA-DM基因多态性分析

为了探讨贵州汉族人群HLA-DM基因多态性的分布情况, 采用PCR-RFLP法对125 例贵州汉族人进行HLA-DM基因分型。结果显示, 贵州汉族人群DMA*0101~0103等位基因频率依次是0.720、0.244、0.036, DMB*0101~0104等位基因频率分布依次是0.620、0.156、0.188和0.036; 贵州汉族人群中DMA的基因型以DMA*0101/0101和0101/0102为主, 而DMB的基因型以DMB*0101/0101、0101/0102和0101/0103为主。结果表明, HLA-DM基因多态性具有地区性、民族性的遗传特征。     

条纹原海豚mtDNA控制区序列变异分析

条纹原海豚( Stenella coeruleualba )是一种暖水性的小型鲸类,在50°N～40°S之间有分布,在其分布区内的许多水域,均受到渔业误捕或直接捕捞的影响(Jefferson et al .,1993).但由于缺乏该物种全面而系统的种群生物学知识,IUCN红皮目录将其保护生物学地位定为\"不清楚\"(Hilton-Taylor,2000),需要进一步开展保护生物学研究.     

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。     

中国汉族群体(西安)DNA HaeⅢ系统遗传多态性

建立了Ｄ２Ｓ９２、Ｄ２Ｓ４４、Ｄ１０Ｓ２８、Ｄ１７Ｓ７９ ４个位点的荧光检测ＲＦＬＰ技术,准确、快速、安全。同时,对尼龙膜ＤＮＡ固定、剥脱尼龙膜再杂交进行了实验,结果表明,碱性磷酸酶标记寡核苷酸探针和荧光检测技术具有很高灵敏度和稳定性,检测样本ＤＮＡ的最小量约３－２５ｎｇ。它将在法医鉴定、基因诊断和遗传研究等领域中发挥越来越大的作用。采用严格地随机抽样,对西安汉族群体进行遗传学调查,用ＡＬＩ８７４     

河南汉族群体6个STR基因座遗传多态性研究

对河南省河南籍汉族群体的6个短串联重复序列（Short tandem repeats,STR)基因座等位基因频率进行研究,得到河南汉族群体F13A1,F13B,D8S1179,CSF1PO,D5S818,TPOX基因座的群体遗传学依据。EDTA抗凝血样采自河南122名无血缘关系的汉族个体,采用Chelex法抽提DNA,PCR扩增,非变性聚丙烯酰胺垂直凝胶电泳,银染显色分析,得到6个基因座的等位基因频率,各基因座的杂合度分别为：0.62,0.46,0.83,0.59,0.78,0.65;人体识别率分别为0.78,0.66,0.95,0.79,0.92,0.82。6个STR基因座具有较高的杂合度,等位基因分布符合Hardy-Weinberg平衡,是较理想的遗传标记,可用于法医学个本识别和亲权鉴定。     

中国水域瓶鼻海豚的mtDNA控制区序列变异性分析

测定了30头中国水域瓶鼻海豚（Tursiops sp.)mtDNA控制区5′端424bp的序列,结合已发表的中国水域其它瓶鼻海豚的mtDNA控制区序列,共发现54个变异位点,定义了37种单元型。中国水域瓶鼻海豚的两个形态型之间没有共享单元型,且具有8个鉴别位点。基于最大似然法和邻接法的系统发生分析均把单元型聚类为分别代表两个形态型的支系。形态型之间的核苷酸歧异度为5.58%,超过了其它海豚类种间的序列歧异水平,支持把这两个形态型划分为两个独立的种,即T.truncatus和T.aduncus的观点。虽然两种瓶鼻海豚的分布区在台湾海峡一带出现重叠,但相互之间缺乏基因流动,提示两者可能已出现了显著的生殖隔离。     

Sequence analysis of the mitochondrial DNA control region of ciscoes (genus Coregonus): taxonomic implications for the Great Lakes species flock

Sequence variation in the control region (D-loop) of the mitochondrial DNA (mtDNA) was examined to assess the genetic distinctiveness of the shortjaw cisco ( Coregonus zenithicus ). Individuals from within the Great Lakes Basin as well as inland lakes outside the basin were sampled. DNA fragments containing the entire D-loop were amplified by PCR from specimens of C. zenithicus and the related species C. artedi , C. hoyi , C. kiyi , and C. clupeaformis . DNA sequence analysis revealed high similarity within and among species and shared polymorphism for length variants. Based on this analysis, the shortjaw cisco is not genetically distinct from other cisco species.     

Single nucleotide polymorphisms in the mitochondrial control region are associated with metabolic phenotypes and oxidative stress

Objective

To identify the mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) in the control region and elucidate their role in metabolic phenotypes and oxidative stress.

Methods

A total of 861 nondiabetic subjects were enrolled, including 250 impaired fasting glucose (IFG) and 370 obese subjects (body mass index [BMI] > 25 kg/m²). Antioxidant status presented as total free thiol level was determined from serum samples. DNA was extracted from peripheral blood leucocytes, and the sequences were analyzed using the DNASTAR software. SNPs were identified by comparison with the Cambridge Reference Sequence.

Results

After adjusting odds ratios for age, sex, and BMI, the selected independently significant SNPs indicated 4 susceptible SNPs: SNP-16126C and SNP-16261T, which were related to abdominal obesity (P = 0.009; 0.06); SNP-16390A, related to hypertension (HTN) (P = 0.007); and SNP-16092C, related to decreased antioxidant capacity (P = 0.015). In the obese subgroup, 3 susceptible SNPs included SNP-16189C and SNP-16260T, which showed significantly higher IFG prevalence (P = 0.016 and 0.024, respectively), and SNP-16519C, which was significantly higher in the HTN group (P = 0.036). As to protective SNPs, 5 protective SNPs were identified in all subjects but only one SNP-16093C is consistent in obese group, which showed a significantly lower prevalence in patients with abdominal obesity and was associated with a higher antioxidant status (P < 0.001).

Conclusion

SNPs in the mtDNA control region are associated with metabolic phenotypes and oxidative stress markers. Some SNPs are relating to the interaction between obesity and genetic factors. The beneficial effects of these protective SNPs were insignificant and some susceptible SNPs became dominant within the obese subgroup. Subjects harboring these SNPs should avoid excessive weight gain.     

Complete nucleotide sequence of the mitochondrial DNA from a liverwort,Marchantia polymorpha

Libraries of cosmid and plasmid clones covering the entire region of mtDNA from the liverwortMarchantia polymorpha were constructed. These clones were used for the determination of the complete nucleotide sequence of the liverwort mtDNA totally 186,608 bp (GenBank no. M68929) and including genes for 3 species of ribosomal RNAs, 29 genes for 27 species of transfer RNAs, and 30 genes for functionally known proteins (16 ribosomal proteins, 3 subunits of cytochromec oxidase, apocytochromeb protein, 3 subunits of H⁺-ATPase, and 7 subunits of NADH ubiquinone oxidoreductase). The genome also contains 32 unidentified open reading frames. Thus the complete nucleotide sequences from both chloroplast and mitochondrial genomes have been determined in the same organism. Plasmid clones are available upon the request. Gene names are represented according to Lonsdale and Leaver (1988) with modifications recommended by Lonsdale (personal communication).     

扬子鳄饲养种群线粒体DNA控制区的序列多态性

扬子鳄(Alligator sinensis)是中国特有的珍稀爬行动物,至2000年,野生扬子鳄的个体数已不足150条,作为保护这一物种的措施之一,先后于80年代初建起了2个养殖场,现人工繁殖的扬子鳄总数已达9000余条。为揭示扬子鳄种群遗传多样性,从两个饲养种群中采集了42个个体的样品,其中宣州样品33个(xZSP),长兴样品9个(CxSP),用PCR方法扩增mtDNA控制区,扩增产物纯化后直接用ABI310全自动遗传分析仪荧光标记测序,得到其中39个个体的血DNA控制区5’端462bP的序列。经比对发现,39个个体间的5’端mtDNA控制区没有任何变异位点,共享一种单元型,提示扬子鳄饲养种群的遗传多样性非常贫乏,造成这一结果的主要原因是近50年来,扬子鳄种群衰退和数量迅速减少导致的遗传多样性丢失,其次是人工繁殖的群体同时受到始创者数量较少产生的瓶颈效应影响。针对扬子鳄遗传多样性的现状,作者最后就这一濒危动物遗传多样性的保护对策提出3点建议。     

Evolutionary history of the honey bee Apis mellifera inferred from mitochondrial DNA analysis

Variability of mitochondrial DNA (mtDNA) of the honey bee Apis mellifera L. has been investigated by restriction and sequence analyses on a sample of 68 colonies from ten different subspecies. The 19 mtDNA types detected are clustered in three major phylogenetic lineages. These clades correspond well to three groups of populations with distinct geographical distributions: branch A for African subspecies (intermissa, monticola, scutellata, andansonii and capensis), branch C for North Mediterranean subspecies (caucasica, carnica and ligustica) and branch M for the West European populations (mellifera subspecies). These results partially confirm previous hypotheses based on morphometrical and allozymic studies, the main difference concerning North African populations, now assigned to branch A instead of branch M. The pattern of spatial structuring suggests the Middle East as the centre of dispersion of the species, in accordance with the geographic areas of the other species of the same genus. Based on a conservative 2% divergence rate per Myr, the separation of the three branches has been dated at about 1 Myr BP.     

SSCP analysis of pig mitochondrial DNA D-loop region polymorphism

The sequence polymorphism that occurs in the mitochondrial DNA (mtDNA) displacement (D)-loop region is useful as a cytoplasmic DNA marker. We cloned the mtDNA D-loop regions of five breeds of pig by polymerase chain reaction (PCR) and determined their sequences. The sequence diversities in D-loop regions among five breeds of pig were located in the starting area of heavy-strand replication. From these sequences, we designed primers for PCR-mediated single-strand conformation polymorphism (PCR-SSCP) analysis that amplified the most polymorphic 227 bp fragment of the D-loop region. The results of PCR-SSCP analysis clearly showed that four types of polymorphism (A to D) are found in Landrace (A), Large White (A, B), Duroc (A), Göttingen miniature pig (B) and Meishan (C, D). The same polymorphisms were also detected from each porcine embryo by this method. Our results show that PCR-SSCP analysis is useful in detecting polymorphisms in the D-loop region of pigs and pig embryos.     

Sequence diversity of the control region of mitochondrial DNA in Tuscany and its implications for the peopling of Europe

The control region of mitochondrial DNA has been widely studied in various human populations. This paper reports sequence data for hypervariable segments 1 and 2 of the control region from a population from southern Tuscany (Italy). The results confirm the high variability of the control region, with 43 different haplotypes in 49 individuals sampled. The comparison of this set of data with other European populations allows the reconstruction of the population history of Tuscany. Independent approaches, such as the estimation of haplotype diversity, mean pairwise differences, genetic distances and discriminant analysis, place the Tuscan sample in an intermediate position between sequences from culturally or geographically isolated regions of Europe (Sardinia, the Basque Country, Britain) and those from the Middle East. In spite of the remarkable genetic homogeneity in Europe, a degree of variability is shown by local European populations and homogeneity increases with the relative isolation of the population. The pattern of mitochondrial variation in Tuscany indicates the persistence of an ancient European component subsequently enriched by migrational waves, possibly from the Middle East. © 1996 Wiley-Liss, Inc.     

Sequence analysis of the entire mitochondrial genome in Parkinson's disease

The pathogenesis of Parkinson's disease (PD) is largely unknown. Indirect evidence suggests that mutations in mitochondrial DNA (mtDNA) might play a role, but previous studies have not consistently associated any specific mutations with PD. However, these studies have generally been confined to limited areas of the mitochondrial genome. We therefore sequenced the entire mitochondrial genome from substantia nigra of 8 PD and 9 control subjects. Several sequence variants were distributed differently between PD and control subjects, but all were previously reported polymorphisms. Several secondary LHON mutations were found, as well as a number of novel missense mutations, but all were rare and did not differ between PD and control subjects. Finally, PD and control subjects did not differ in the total number of all mutations, nor the total number of missense mutations. Thus, mtDNA involvement in PD, if any, is likely to be complex and should be reconsidered carefully.