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常用实验用近交系小鼠粒体DNA遗传变异的分析 总被引:5,自引:0,他引:5
应用PCR-RFLP和PCR-SSCP技术,研究了分析了国内常用的实验用近交系小鼠线粒体DNA(mtDNA)的品种间遗传变异。PCR-RFLP分析发现,小鼠mtDNA的D-loop、tRNA^Met Glu Ile及ND3基因核酸序列,在46个限制性内切酶酶切位点上均无差异;用PCR-SSCP分析方法对这些小鼠mtDNA的高变异区D-Loop的5′及3′端作进一步分析,亦未发现品种间遗传变异。结合mtDNA具有的母系遗传方式的特点,这一结果提示:常用的实验用近交系小鼠形成中可能只有1种雌性血统起了作用。 相似文献
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玉米CMS材料线粒体DNA遗传多型性的研究 总被引:19,自引:0,他引:19
选用11×4=44个探针/酶组合,50个(10mer)随机序列引物对25种不同胞质来源的CMS玉米,5种正常胞质玉米线粒体DNA进行RFLP和RAPD研究。研究结果表明:(1)45%的探针/酶组合可检测到玉米线粒体DNA的多型性,共表现15种RFLP类型,其中S组CMS材料内有7种,正常胞质材料内有2种;80%的随机引物可检测到RAPD。(2)基于RFLP资料的聚类分析结果,可将30种胞质明确地划分为T、C、S、N4组,其结果与恢复专效性测定结果一致。其中pHJ2-7-1/BamHI的RFLP类型可成为利用RFLP技术进行胞质分组的鉴定体系。(3)“双”型胞质线粒体DNA常表现S+C胞质的RFLP图谱。 相似文献
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用RFLP和PCR—RFLP技术研究东北虎和华南虎线粒体DNA多态性 总被引:5,自引:0,他引:5
采用mtDNARFLP和PCRRFLP技术研究了东北虎和华南虎的mtDNA的多态性。在mtDNARFLP研究中,分离纯化了东北虎和华南虎肝、肾和心脏组织的mtDNA,用20种识别6碱基对的限制性内切酶消化,结果只有1种限制性内切酶(XbaⅠ)检测到多态性片段,其余19种限制性内切酶消化产生的限制性格局在东北虎和华南虎完全一致。在PCRRFLP研究中,用PCR技术分别扩增了东北虎和华南虎mtDNA的控制区(controlregion),用8种识别4碱基对的限制性内切酶分别对扩增产物进行消化,结果只有1种限制性内切酶(RsaⅠ)检测到多态性片段。mtDNARFLP及PCRRFLP的结果均提示东北虎和华南虎之间的遗传距离极小。这可能与下列因素有关:两者分布区间无天然隔离屏障;具有强扩散能力;近几百年才被相互隔离。 相似文献
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AFLP分子标记及其在植物育种上的应用 总被引:64,自引:0,他引:64
扩增酶切片段多态性(AmplifiedRstricitonfragmentpolymorphism,简称AFLP)是由Zabeau等1992年发明的一项新的DNA指纹技术,它结合了RFLP和PCR技术的特点,具有RFLP技术的可靠性和PCR技术高效性,其基本原理是对基因组DNA酶切片段的选择性扩增,AFLP扩增片段的谱带数取决于采用的内切酶及引物3′端选择碱基的种类数目和所研究基因组的复杂性,实验 相似文献
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AFLP标记及在植物中的应用 总被引:9,自引:0,他引:9
AFLP是 1 992年由荷兰Keygene公司Zabeau、Vos在PCR和RFLP的基础上发展起来的一种检测DNA多态性的新方法[1] ,并于1 993年获得欧洲专利局专利。与RFLP类似 ,AFLP也是通过限制性内切酶片段的不同长度检测DNA多态性的一种DNA分子标记技术。由于RFLP是以传统的Southern杂交为基础的 ,操作繁琐 ,对DNA多态性的检出的灵敏度不高 ,在连锁图上有很多大的空间区。随着PCR技术广泛应用 ,对分子标记技术的发展产生了巨大的推动作用。除了RFLP(限制性内切酶酶切片段长度多态性标记 … 相似文献
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用分子生物学技术对草菇进行菌株鉴别 总被引:4,自引:0,他引:4
利用AP-PCR和RAPD技术对三个草菇菌株进行鉴别,其结果与用草菇菌株V34基因文库中的中等重复序列为探针进行限制性内切酶长度多态性分析(RFLP),及对编码核糖体5.8SrRNA的DNA(rDNA)进行PCR扩增后的产物进行限制性内切酶长主多态性分析(PCR-RFLP)的结果相一致。这一结果显示出用这四种方法对草菇菌株进行鉴别具有相似的效果。同时用这四种方法构建的分子生物学标记显示出这三个菌株 相似文献
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用PCR—RFLP方法研究藏族HLA0—DQA1和—DQB1基因多态性 总被引:4,自引:1,他引:3
应用目前HLA研究领域中成熟的、有效的PCR-RFLP基因分型技术,从DNA水平对藏族健康群体进行了HLA-DQA1(49人)和-DQB1(49人)基因分型,这在国内外属首次。所采用的PCR-RFLP基因分型技术是在HLA-DQA1和-DQB1各等位基因全部序列已知的情况下,对其第2个外显子碱基序列扩增进而进行RFLP分析的方法。这种方法得到的RFLP的所有片段都是已知序列,因而精确度很高,同时为 相似文献
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Nogales-Gadea G Pinós T Ruiz JR Marzo PF Fiuza-Luces C López-Gallardo E Ruiz-Pesini E Martín MA Arenas J Morán M Andreu AL Lucia A 《Mitochondrion》2011,11(6):905-908
There is increasing evidence regarding the association between mitochondrial DNA (mtDNA) and aerobic capacity; however, whether mtDNA haplogroups are associated with the status of being an elite endurance athlete is more controversial. We compared the frequency distribution of mtDNA haplogroups among the following groups of Spanish (Caucasian) men: 102 elite endurance athletes (professional road cyclists, endurance runners), 51 elite power athletes (jumpers, throwers and sprinters), and 478 non-athletic controls. We observed a significant difference between endurance athletes and controls (Fisher exact test = 17.89, P = 0.015; Bonferroni's significant threshold = 0.017), yet not between power athletes and controls (Fisher exact test = 47.99, P = 0.381) or between endurance and power athletes (Fisher exact test = 5.53, P = 0.597). We observed that the V haplogroup was overrepresented in endurance athletes (15.7%) compared with controls (7.5%) (odds ratio: 2.284; 95% confidence interval: 1.237, 4.322). In conclusion, our findings overall support the idea that mtDNA variations could be among the numerous contributors to the status of being an elite endurance athlete, whereas no association was found with elite power athletic status. 相似文献
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T Yvert ZH He C Santiago Y Hu YC Li F Gómez-Gallego C Fiuza-Luces Z Verde CA Muniesa J Oliván A Santalla JR Ruiz A Lucia 《PloS one》2012,7(7):e41268
The aim of this study was to determine the association between the rs6552828 polymorphism in acyl coenzyme A synthetase (ACSL1) and elite endurance athletic status. We studied 82 Caucasian (Spanish) World/Olympic-class endurance male athletes, and a group of sex and ethnically matched healthy young adults (controls, n=197). The analyses were replicated in a cohort of a different ethnic origin (Chinese of the Han ethnic group), composed of elite endurance athletes (runners) [cases, n=241 (128 male)] and healthy sedentary adults [controls, n=504 (267 male)]. In the Spanish cohort, genotype (P=0.591) and minor allele (A) frequencies were similar in cases and controls (P=0.978). In the Chinese cohort, genotype (P=0.973) and minor allele (G) frequencies were comparable in female endurance athletes and sedentary controls (P=0.881), whereas in males the frequency of the G allele was higher in endurance athletes (0.40) compared with their controls (0.32, P=0.040). The odds ratio (95%CI) for an elite endurance Chinese athlete to carry the G allele compared with ethnically matched controls was 1.381 (1.015-1.880) (P-value=0.04). Our findings suggest that the ACSL1 gene polymorphism rs6552828 is not associated with elite endurance athletic status in Caucasians, yet a marginal association seems to exist for the Chinese (Han) male population. 相似文献
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目的:研究碘代甲状腺氨酸脱碘酶(DIO)基因多态性与有氧耐力的相关性,寻找与有氧耐力表型相关的分子标记。方法:应用基质辅助激光解吸电离飞行时间质谱检测技术,对123名中国北方汉族优秀长跑运动员(EEA)与127名中国北方汉族普通大学生(CG)DIO1基因C785T位点及DIO2基因的Thr92Ala和Gly3Asp位点进行解析并分析比较,其中优秀运动员又根据运动等级和运动项目分为国际健将与健将组(43vs80),及5/10km和马拉松组(92vs31)。结果:在DIO1的C785T位点及DIO2的Thr92Ala位点,各组间基因型和等位基因频率均无显著性差异(P>0.05);在DIO2的Gly3Asp位点,三种基因型在CG组与国际健将组、CG组与马拉松组间的分布均差异显著(P<0.05),其中TT基因型在CG组中不表达,仅存在于EEA组,但频率很低。DIO2的Thr92Ala及Gly3Asp位点处于强连锁不平衡,CT单体型在男CG组与女CG组、男CG组与男EEA组间分布均差异显著(P<0.05),在男CG组与男健将组、男马拉松组间的分布也均差异显著(P<0.05),TC单体型则在女CG组与女国际健将组、女5000m和10000m组间的分布差异显著(P<0.05)。结论:DIO2基因Thr92Ala及Gly3Asp位点的CT单体型分布具有性别差异,是男子EEA有氧耐力素质的分子标记,可用于男子长跑健将级运动员及马拉松运动员的分子选材,TC单体型则是女子长跑国际健将运动员和5000m、10000m运动员有氧耐力素质的分子标记。 相似文献
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Scott RA Wilson RH Goodwin WH Moran CN Georgiades E Wolde B Pitsiladis YP 《Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology》2005,140(3):497-503
Previous studies have hypothesised that mitochondrial DNA (mtDNA) polymorphisms may influence aerobic performance. The matrilineal inheritance and accumulation of polymorphisms in mtDNA means that mtDNA haplogroups, characterised by key polymorphisms, are often represented at different frequencies in different populations. The present study aimed to compare the mtDNA haplogroup distribution of elite Ethiopian athletes relative to the general Ethiopian population. The haplogroup distribution of 76 endurance athletes (E), members of the Ethiopian national athletics team, was compared to 108 members of the general Ethiopian population (C). DNA was extracted from buccal swabs and haplogroups assigned by sequencing part of the hypervariable sequence (HVS-I), followed by analysis of key coding-region polymorphisms. A high proportion of African 'L' haplogroups was found in athletes and controls (C=53%; E=55%). Haplogroup distribution of endurance runners did not differ from that of C (P=0.63). Elite Ethiopian athletes are not a mitochondrially distinct group relative to the Ethiopian population. It appears that environment and, perhaps, polymorphisms in the nuclear genome are more important determinants of Ethiopian running success than mtDNA polymorphisms. 相似文献
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SSCP analysis of pig mitochondrial DNA D-loop region polymorphism 总被引:10,自引:0,他引:10
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. 相似文献
16.
N Eynon JR Ruiz P Femia VP Pushkarev P Cieszczyk A Maciejewska-Karlowska M Sawczuk DA Dyatlov EV Lekontsev LM Kulikov R Birk DJ Bishop A Lucia 《PloS one》2012,7(8):e43132
The ACTN3 R577X polymorphism (rs1815739) is a strong candidate to influence elite athletic performance. Yet, controversy exists in the literature owing to between-studies differences in the ethnic background and sample size of the cohorts, the latter being usually low, which makes comparisons difficult. In this case:control genetic study we determined the association between elite athletic status and the ACTN3 R577X polymorphism within three cohorts of European Caucasian men, i.e. Spanish, Polish and Russian [633 cases (278 elite endurance and 355 power athletes), and 808 non-athletic controls]. The odds ratio (OR) of a power athlete harbouring the XX versus the RR genotype compared with sedentary controls was 0.54 [95% confidence interval (CI): 0.34–0.48; P = 0.006]. We also observed that the OR of an endurance athlete having the XX versus the RR genotype compared with power athletes was 1.88 (95%CI: 1.07–3.31; P = 0.028). In endurance athletes, the OR of a “world-class” competitor having the XX genotype versus the RR+RX genotype was 3.74 (95%CI: 1.08–12.94; P = 0.038) compared with those of a lower (“national”) competition level. No association (P>0.1) was noted between the ACTN3 R577X polymorphism and competition level (world-class versus national-level) in power athletes. Our data provide comprehensive support for the influence of the ACTN3 R577X polymorphism on elite athletic performance. 相似文献
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No association between the angiotensin-converting enzyme ID polymorphism and elite endurance athlete status. 总被引:8,自引:0,他引:8
T Rankinen B Wolfarth J A Simoneau D Maier-Lenz R Rauramaa M A Rivera M R Boulay Y C Chagnon L Pérusse J Keul C Bouchard 《Journal of applied physiology》2000,88(5):1571-1575
Several studies have reported that the insertion (I) allele of the angiotensin-converting enzyme (ACE) I/deletion (D) polymorphism is associated with enhanced responsiveness to endurance training and is more common in endurance athletes than in sedentary controls. We tested the latter hypothesis in a cohort of 192 male endurance athletes with maximal oxygen uptake >/=75 ml. kg(-1). min(-1) and 189 sedentary male controls. The ACE ID polymorphism in intron 16 was typed with the three-primer polymerase chain reaction method. Both the genotype (P = 0.214) and allele (P = 0.095) frequencies were similar in the athletes and the controls. Further analyses in the athletes revealed no excess of the I allele among the athletes within the highest quartile (> 80 ml. kg(-1). min(-1)) or decile (>83 ml. kg(-1). min(-1)) of maximal oxygen uptake. These data from the GENATHLETE cohort do not support the hypothesis that the ACE ID polymorphism is associated with a higher cardiorespiratory endurance performance level. 相似文献
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Jerzy Eider Krzysztof Ficek Mariusz Kaczmarczyk Agnieszka Maciejewska-Karłowska Marek Sawczuk Paweł Cięszczyk 《Central European Journal of Biology》2014,9(3):260-267
The NOS3 gene has been associated with athletic endurance performance and elite power athletic status. With respect to NOS3 G894T and its relation to athletic performance or status, results across various studies have not been consistent. Therefore, the lack of consistency among previous studies prompted us to design a case-control study in a Polish Caucasian population to examine the relationship between the NOS3 G894T polymorphism and athletes' status, i.e. type and intensity of exercise performed (poweroriented, “mixed” power/endurance activity, endurance-oriented) and the possible association between the G894T variant and athletic performance. The case-control study was performed in a group of 360 Polish athletes (cases) of the highest nationally competitive standard (male n=156 and female n=67) and 191 unrelated, sedentary control subjects. The G894T genotype and allele distributions differed significantly between power-oriented (P=0.009, P=0.003), “mixed” (P=0.021, P=0.009), endurance (P=0.043, P=0.014) athletes when compared to control subjects (P values for genotypes and alleles, respectively). There were no significant differences between elite and sub-elite athletes in any group. The over-representation of the GG genotype and G allele in all athletes suggests that the G894 allele may favour all types of sports, however, the strongest predisposition was seen among power-oriented athletes. 相似文献
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《PloS one》2016,11(1)
There are strong genetic components to cardiorespiratory fitness and its response to exercise training. It would be useful to understand the differences in the genomic profile of highly trained endurance athletes of world class caliber and sedentary controls. An international consortium (GAMES) was established in order to compare elite endurance athletes and ethnicity-matched controls in a case-control study design. Genome-wide association studies were undertaken on two cohorts of elite endurance athletes and controls (GENATHLETE and Japanese endurance runners), from which a panel of 45 promising markers was identified. These markers were tested for replication in seven additional cohorts of endurance athletes and controls: from Australia, Ethiopia, Japan, Kenya, Poland, Russia and Spain. The study is based on a total of 1520 endurance athletes (835 who took part in endurance events in World Championships and/or Olympic Games) and 2760 controls. We hypothesized that world-class athletes are likely to be characterized by an even higher concentration of endurance performance alleles and we performed separate analyses on this subsample. The meta-analysis of all available studies revealed one statistically significant marker (rs558129 at GALNTL6 locus, p = 0.0002), even after correcting for multiple testing. As shown by the low heterogeneity index (I2 = 0), all eight cohorts showed the same direction of association with rs558129, even though p-values varied across the individual studies. In summary, this study did not identify a panel of genomic variants common to these elite endurance athlete groups. Since GAMES was underpowered to identify alleles with small effect sizes, some of the suggestive leads identified should be explored in expanded comparisons of world-class endurance athletes and sedentary controls and in tightly controlled exercise training studies. Such studies have the potential to illuminate the biology not only of world class endurance performance but also of compromised cardiac functions and cardiometabolic diseases. 相似文献
20.
KENT M. REED MICHAEL O. DORSCHNER THOMAS N. TODD & RUTH B. PHILLIPS 《Molecular ecology》1998,7(9):1091-1096
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. 相似文献