上海地区汉族优秀游泳运动员mtDNA高变区Ⅰ单核苷酸多态性研究

目的探讨上海地区汉族优秀游泳运动员mtDNA高变区ⅠSNPs的分布特点,并与上海地区汉族普通人进行比较研究。方法分别以89名上海籍汉族优秀游泳运动员和71名普通人为研究对象,采用PCR产物纯化后直接测序的方法,应用DNASTAR6.10版序列分析软件对不同人群的序列多态性进行分析,并与剑桥序列进行比对,确定SNPs的位点、类型及频率。结果(1)游泳运动员和普通人mtDNA高变区ⅠSNPs分布频率高于10%的位点分别为15个和13个,大于20%位点分别有6个和7个,其它均为常见SNPs;其中位点C16168A为普通人所独有;(2)游泳运动员位点C16167A频率显著高于普通人(P<0.05~0.001);(3)游泳运动员独有插入位点(I-C16188),其频率为11.2%,同时,该位点健将和一级运动员的频率均大于10%;(4)上海地区汉族游泳运动员、我国优秀皮划艇运动员以及中国不同地区汉族人与亚洲人mtDNA的多态性无明显差异(P>0.05),但与欧美和非洲人群均存在明显差异(P<0.05~0.001)。提示(1)位点C16167A可能是上海地区汉族游泳运动员运动能力相关的基因标记,但仍需深入进行与运动能力表型关联的研究;(2)插入位点(I-C16188)可能成为新的标记上海汉族游泳运动员运动能力的SNPs位点;(3)不同种族间mtDNA高变区Ⅰ的多态性存在差异,从而相关的基因标记也可能不同。     

中国皮划艇耐力运动员线粒体高变区Ⅱ序列多态性与最大有氧能力的关联分析

目的:探讨线粒体基因高变区Ⅱ(mtDNA HVR-Ⅱ)与有氧运动能力的关联性。方法:国家皮划艇集训队汉族耐力运动员94人为耐力组;随机选取年龄、地域相当的汉族大学生92人为普通对照组。对所有受试者采用PCR扩增、测序确定mtDNA HVR-Ⅱ的序列多态性,采用跑台与气体代谢法测定最大摄氧量。结果:我国汉人和耐力运动员mtDNA HVR-Ⅱ的np150、np191-192、np194、np195和np317位点多态性在最大摄氧量上发现显著性差异。对照组女性np150位点C基因型VO2max/kg显著高于T基因型(P<0.05);耐力组男性np191-192位点"插入A"基因型的VO2max/kg显著高于"无插入"基因型(P<0.05);耐力组男性np194位点T基因型VO2max/kg显著高于C基因型(P<0.05);耐力组男性np195位点C基因型VO2max显著高于T基因型(P<0.05);对照组男性np317位点C基因型VO2max/kg高于G/C基因型(P<0.05)。结果提示:mtDNAHVR-Ⅱ的np150、np191-192、np194、np195和np317多态性与最大摄氧量可能关联,有可能成为人类运动能力的遗传标记。     

上海地区汉族优秀游泳运动员ACE基因I/D多态性研究

目的:探讨上海地区汉族不同水平优秀游泳运动员ACE(血管紧张素转化酶)基因I/D多态性的分布特点。方法:采用PCR方法,对上海地区85名汉族优秀游泳运动员和90名汉族普通人的ACE基因I/D多态性进行检测。结果显示,上海地区汉族优秀游泳运动员的ACE基因的基因型和等位基因频率与上海和成都地区汉族普通人无明显差异(P>0.05);上海地区汉族游泳运动员和普通人以及成都地区汉族普通人的基因型和等位基因频率均与高加索人群存在高度显著性差异(P<0.0001),表现出明显的种族差异性。7名上海地区汉族国际健将ACE基因均为II型,运动水平越高的组别,II基因型和I等位基因频率越高,提示具有II基因型或I等位基因频率高的运动员经过多年运动训练,具有成为优秀运动员的可能,特别是II基因型的运动员可能性更大。     

中国皮划艇运动员线粒体高变区Ⅱ序列多态性位点与有氧耐力的关系

为了探讨人类有氧耐力相关的基因标记与分子机制,本研究对线粒体基因(mtDNA)高变区Ⅱ(HVR-Ⅱ)作了序列多态性分析。所有受试者均为汉人,分为3组:耐力组123人,选自国家皮划艇集训队;力量组70人,选自国家举重集训队,作为项目对照;对照组132人选自年龄、地域相当的大学生,作为常人对照。通过特异性扩增mtDNAHVR-Ⅱ片段、测序,分析多态性,寻找不同基因型在三组人群中的分布差异。结果显示:在受试者的HVR-Ⅱ片段中,共检测到81个变异位点,平均每3.9个碱基就有一个变异位点。在一些重要功能区也不乏多态性位点分布,其中的部分位点多态性频率在10%以上。耐力组在np303-np309(携带C9)、np310(缺失T)、np320(携带T)和np332(携带A)位点多态性显著高于对照组和力量组(P<0.05)。结果提示:mtDNAHVR-Ⅱ功能区序列并非十分保守,部分位点多态性频率相当高。np303-np309(携带C9)、np310(缺失T)、np320(携带T)和np332(携带A)位点多态性有可能成为人类有氧耐力的相关基因标记。     

中国耐力运动员线粒体DNA高变区Ⅰ单核苷酸多态性分析

为了探讨人类运动能力相关的基因标记与分子机制 ,对线粒体基因 (mtDNA)高变区Ⅰ作了序列多态性分析。研究选取汉族耐力运动员 94人 ,相应汉人对照 92人 ,对其mtDNA高变区Ⅰ特异性片段进行扩增、测序 ,分析其单核苷酸多态性 (SNPs)改变 ,并对不同人群mtDNA高度区Ⅰ的基因多态性特点作了比较。结果显示 :中国汉族耐力运动员mtDNA高变区Ⅰ同质性SNPs频率大于 10 %的位点有 13个 ,大于 2 0 %的位点有 5个 ,属常见SNPs。C16 2 2 3T和T16 36 2C两个位点发生明显的同质性多态 ,其多态性频率明显高于其他SNP位点 (80 30 % ,4 7 6 2 % )。中国汉族耐力运动员mtDNA高变区Ⅰ异质性SNPs频率大于 10 %的位点有 4个 ,所有异质性多态频率均小于 2 0 % ,属稀有SNPs。位点C16 16 7A和C16 0 85G为运动员特有 ,位点T16 12 4A多态频率分布在汉族耐力运动员显著高于汉人对照 (P <0 .0 1)。结果提示 ,mtDNA高变区ⅠSNPs位点C16 16 7A、C16 0 85G及T16 12 4A可能成为人类运动能力相关的基因标记。不同人群间mtDNA高变区ⅠSNP存在明显差异 ,相关的基因标记可能也存有差异。     

中国皮划艇、举重运动员线粒体高变区Ⅱ同质序列多态性分析

目的:通过对线粒体基因(mtDNA)高变区Ⅱ(HVR-Ⅱ)作序列多态性分析,探讨与人类运动能力相关的基因标记及其分子机制。方法:受试者均为中国汉人,其中皮划艇运动员123人,举重运动员70人,对照组132人。通过特异性扩增mtDNAHVR-Ⅱ片段并测序,分析其序列多态性变化。结果与结论:中国皮划艇、举重运动员和普通汉人对照的mtDNAHVR-Ⅱ具有很高序列多样性,遗传变异性大,遗传多样性丰富。3组人群mtDNAHVR-Ⅱ同质性序列多态性无显著性差异,并具有共同特征:(1)碱基替换频率高于重排频率,碱基替换以转换为主,碱基转换中以嘌呤转换为主,嘌呤转换中以A-G频率最高;(2)重排以碱基插入为主,其中插入C频率最高,其次为CC;(3)3组人群mtDNAHVR-Ⅱ与HVR-Ⅰ具有相似的碱基替换频率。在HVR-Ⅱ中,np73位点的A-G多态性频率具有明显的种族和地域差异。     

中国皮划艇、举重运动员线粒体高变区Ⅱ异质序列多态性分析

目的:通过对线粒体基因(mtDNA)高变区Ⅱ(HVR-Ⅱ)作序列多态性分析,探讨与人类运动能力相关的基因标记与分子机制。方法:受试者均为中国汉人,其中皮划艇运动员(耐力组)123人;举重运动员(力量组)70人;普通汉人(对照组)132人。通过特异性扩增mtDNA HVR-Ⅱ片段并测序,分析其序列多态性变化。结果:三组人群的mtDNA HVR-Ⅱ中共发现27个位点存在异质多态现象,其中C317A/T/G、C330A/G和C332A/T呈现多种异质形式,C348G和T321G多态位点为皮划艇运动员独有。三组人群mtDNA HVR-Ⅱ异质性碱基替换均呈现颠换为主、转换次之的特征。耐力组和对照组mtDNA HVR-Ⅱ的碱基转换以C/T频率最高。力量组异质性碱基转换G/A频率显著高于非力量组(P<0.05),提示mtDNA异质性的多态可能与力量素质相关。     

西藏藏族mtDNA COⅡ/tRNALys 基因间区9-bp缺失多态性

目的通过对西藏拉萨和那曲两地区藏族群体线粒体DNA　COⅡ／tRNA^Lys基因间（V区）的研究，了解V区9-bp短串联重复序列的多态性。方法应用PCR法扩增163例（拉萨82例，那曲81例）藏族青少年标本后琼脂糖凝胶电泳进行检测，并对突变样本测序分析。结果共有9例缺失型（占5．52％），其中拉萨藏族中有4例（4．88％），那曲藏族中有5例（6．17％），其余为标准型，未发现3型和长型多态。结论研究结果表明西藏两地区藏族人群中只存在mtDNA V区的标准型和缺失型两种多态性，而且其缺失率经两样本率的X^2检验证明差别不大。     

中国耐力运动员线粒体DNA高变区I单核苷酸多态性分析

为了探讨人类运动能力相关的基因标记与分子机制,对线粒体基因(mtDNA)高变区Ⅰ作了序列多态性分析.研究选取汉族耐力运动员94人,相应汉人对照92人,对其mtDNA高变区Ⅰ特异性片段进行扩增、测序,分析其单核苷酸多态性(SNPs)改变,并对不同人群mtDNA高度区Ⅰ的基因多态性特点作了比较.结果显示:中国汉族耐力运动员mtDNA高变区Ⅰ同质性SNPs频率大于10%的位点有13个,大于20%的位点有5个,属常见SNPs.C16223T和T16362C两个位点发生明显的同质性多态,其多态性频率明显高于其他SNP位点(80.30%,47.62%).中国汉族耐力运动员mtDNA高变区Ⅰ异质性SNPs频率大于10%的位点有4个,所有异质性多态频率均小于20%,属稀有SNPs.位点C16167A和C16085G为运动员特有,位点T16124A多态频率分布在汉族耐力运动员显著高于汉人对照(P<0.01).结果提示,mtDNA高变区Ⅰ SNPs位点C16167A、C16085G及T16124A可能成为人类运动能力相关的基因标记.不同人群间mtDNA高变区Ⅰ SNP存在明显差异,相关的基因标记可能也存有差异.     

西藏藏族mtDNA COⅡ/tRNALys 基因间区9-bp缺失多态性

 目的 通过对西藏拉萨和那曲两地区藏族群体线粒体DNA COⅡ/tRNALys基因间(Ⅴ区)的研究,了解Ⅴ区9-bp短串联重复序列的多态性.方法 应用PCR法扩增163例(拉萨82例,那曲81例)藏族青少年标本后琼脂糖凝胶电泳进行检测,并对突变样本测序分析.结果 共有9例缺失型(占5.52%),其中拉萨藏族中有4例(4.88%),那曲藏族中有5例(6.17%),其余为标准型,未发现3型和长型多态.结论 研究结果表明西藏两地区藏族人群中只存在mtDNA Ⅴ区的标准型和缺失型两种多态性,而且其缺失率经两样本率的χ2检验证明差别不大.     

Sequence analysis of mitochondrial DNA hypervariable region I in Thai individuals

Nucleotide sequence analysis of hypervariable region I (HVRI) in human mitochondrial DNA (mtDNA) was investigated in 100 unrelated Thai individuals. A total of 85 variable sites and 423 base substitutions, which consisted of 390 nucleotide transitions and 33 nucleotide transversions were found. The following nucleotide substitutions were found: 48% at 16,223, 31% at 16,304, 30% at 16,332, and 26% at 16,129, respectively. Transition from T to C (43.7%) was the most frequent substitution. The nucleotide insertions were found at two sites with T at position 16,188 and C at position 16,194. Eighty-two haplotypes were investigated of which 72 haplotypes were unique. The most frequent haplotypes (16,108T-16,129A-16,162G-16,172C-16,304C and 16,260T-16,298C-16,355T-16,362C) were observed. From position 16,180 to 16,193, thirteen patterns of polycytosine or C-stretch were observed, whereas 68 Thai individuals were found to be similar to the references. The genetic diversity, random match probability, and discrimination power were estimated to be 0.9943, 0.0156, and 0.9844, respectively.     

我国耐力运动员线粒体DNA高变区I序列异质性多态特征

为了探讨人类运动能力相关的基因标记与分子遗传学机制 ,选取汉族耐力运动员 95人 ,相应汉人对照 92人 ,对其线粒体基因高变区I(mtDNAHVRⅠ )特异性片段进行扩增、测序 ,分析其序列多态性特征。结果显示 :中国汉人及其耐力运动员mtDNAHVRⅠ总共测得 14 0个多态位点 ,其中 ,异质性多态位点 2 7个。中国汉族耐力运动员mtDNAHVRⅠ异质性多态位点 2 0个 ,位点A16 132C ,A16 135C ,C16 0 85G ,T16 14 4A ,C16 111T ,C16 10 7T ,C16 10 8T ,T16 189C为其独有。异质性多态类型主要表现为碱基转换和碱基颠换两种 ,未见碱基缺失及插入改变。运动员T -A颠换频率显著高于常人对照 (P <0 .0 1) ,而A -G转换和T -G颠换频率则显著低于常人对照 (P <0 .0 1,P<0 .0 5 )。研究结果提示 ,mtDNAHVRⅠ异质性多态特征明显区别于同质性多态改变 ,mtDNAHVRⅠ作为良好的遗传标记 ,对于人类运动能力的分子遗传学探讨有重要意义     

Sequence polymorphisms of mtDNA HV1, HV2 and HV3 regions in eight population groups living in Taiwan

Analysis of human mitochondrial DNA (mtDNA) polymorphisms in the D-loop region has become a useful tool in forensic casework and matrilineal origin research. In this study, the mtDNA D-loop region including hypervariable region 1 (HV1), hypervariable region 2 (HV2), segment between HV1 and HV2 (7S DNA spanned region), and extended hypervariable region 3 (HV3ex) was sequenced in 539 unrelated individuals from eight population groups living in Taiwan. Combined analyses of the complete D-loop revealed a total of 383 haplotypes with 319 unique haplotypes. The probability of any two individuals sharing the same mtDNA haplotype decreased as the combination of control region segments extended and reached 0.48% with the combination of a complete D-loop region. Sequence variants in HV3ex can further discriminate the haplotypes in some population groups. Phylogenetic haplogroups of these subjects were analyzed. The multidimensional scaling plots of these population groups, constructed based on sequence of the complete D-loop, demonstrated a clear matrilineal genetic substructure in this area. In conclusion, this database of mtDNA complete D-loop sequence including HV3 can serve as a reference for forensic identification. Sequence polymorphisms of the D-loop located outside the HV1 and HV2 may be helpful in further haplogroup characterization.     

贵州思南黄牛线粒体DNA D-loop区全序列多态性分析

为了解贵州思南黄牛的遗传多样性及遗传背景,我们测定了21个个体线粒体DNA D-loop区序列。检测到8种单倍型,4种为普通牛血统的单倍型,4种为瘤牛血统的单倍型,表明思南黄牛同时受普通牛和瘤牛的影响。这对于思南黄牛的保种及持续利用有着重要的理论指导意义。     

中国优秀马拉松运动员ACE基因I/D多态性频率分布特征

通过分析中国马拉松运动员ACE基因I/D多态频率分布特征,探讨其作为杰出耐力基因标记的可行性。选择我国马拉松健将、国际健将级运动员26名作为马拉松运动员组,汉族学生216名作为对照组。对两组受试者进行ACE基因I/D多态性测定。结果显示:我国马拉松运动员组的等位基因频率和基因型频率与对照组比较无显著差异,其中15名国际健将中无一DD型纯合子,提示我国优秀马拉松运动员的纯合子DD型频率低下是其ACE基因多态频率分布的主要特征。     

Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population

Sequence polymorphisms of the hypervariable mitochondrial DNA (mtDNA) regions HVI and HVII, and coding region polymorphisms were investigated in 211 unrelated individuals from the Japanese population. Sequence comparison of the HVI and HVII regions led to the identification of 169 mitochondrial haplotypes defined by 147 variable positions. Among them 145 types were observed in only 1 individual; the other 24 types were shared by 2 or more individuals. The gene diversity was estimated at 0.9961, and the probability of two randomly selected individuals from the population having identical mtDNA types was 0.86%. We also established phylogenetic haplogroups in the Japanese population based on the coding and control region polymorphisms and compared the haplotypes with those in other Japanese, Korean and Chinese populations. As a result, three new subhaplogroups, G4a, G4b, and N9b, and several haplotypes specific for the Japanese and Korean populations were identified. The present database can be used not only for personal identification but also as an aid for geographic or phenotype (race) estimation in forensic casework in Japan.Electronic Supplementary Material Supplementary material is available for this article if you access the article at     

Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians

We have sequenced the entire mtDNA genome (mtGenome) of 241 individuals who match 1 of 18 common European Caucasian HV1/HV2 types, to identify sites that permit additional forensic discrimination. We found that over the entire mtGenome even individuals with the same HV1/HV2 type rarely match. Restricting attention to sites that are neutral with respect to phenotypic expression, we have selected eight panels of single nucleotide polymorphism (SNP) sites that are useful for additional discrimination. These panels were selected to be suitable for multiplex SNP typing assays, with 7–11 sites per panel. The panels are specific for one or more of the common HV1/HV2 types (or closely related types), permitting a directed approach that conserves limiting case specimen extracts while providing a maximal chance for additional discrimination. Discrimination provided by the panels reduces the frequency of the most common type in the European Caucasian population from ~7% to ~2%, and the 18 common types we analyzed are resolved to 105 different types, 55 of which are seen only once.