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Microsatellite Polymorphism (microsatellite + polymorphism)
Selected AbstractsORIGINAL ARTICLE: Leptin Gene (TTTC)n Microsatellite Polymorphism as well as Leptin Receptor R223Q and PPAR,2 P12A Substitutions are not Associated with Hypertensive Disorders in PregnancyAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 4 2010Annette Wiedemann Citation Wiedemann A, Vocke F, Fitzgerald JS, Markert UR, Jeschke U, Lohse P, Toth B. Leptin gene (TTTC)n microsatellite polymorphism as well as Leptin receptor R223Q and PPAR,2 P12A substitutions are not associated with hypertensive disorders in pregnancy. Am J Reprod Immunol 2010; 63: 310,317 Problem, Pregnancy-induced hypertension (PIH) affects up to 15% of all pregnancies. Disturbed placentation is one factor associated with PIH. Leptin and peroxisome proliferator activator receptors (PPAR) seem to play an important role in placentation, fetal development, and blood pressure regulation. Therefore, we investigated polymorphisms in the genes encoding leptin, the leptin receptor, and PPAR,2 in patients with PIH. Method of study, In this retrospective case,control study, 103 patients with PIH [gestational hypertension (GH) n = 39; preeclampsia n = 27; eclampsia n = 5; HELLP n = 32] and 100 controls were analyzed for the LEP tetranucleotide repeat (TTTC)n and the leptin receptor (LEPR) R223Q and PPAR,2 P12A substitutions. Statistical analysis was performed using the chi-square, Mann,Whitney U -, and Kruskal,Wallis tests (P < 0.05 significant). Results, The frequency of the three possible genotypes did not differ significantly between patients and controls [LEP (TTTC)n: P = 0.43; LEPR R223Q: P = 0.94; PPAR,2 P12A: P = 0.94]. However, postpartal diastolic blood pressure of PIH patients was significantly higher in homozygous carriers of the LEPR Q223-encoding allele as compared with patients carrying the wild-type allele (P < 0.01). Conclusion, Hypertensive disorders in pregnancy were not associated with the LEP, LEPR, and PPAR,2 polymorphisms studied. The role of other variations in the LEP and PPAR genes in the pathophysiology of PIH and in exacerbations are the objective of ongoing research. [source] Microsatellite polymorphism and genetic distances between the dog, red fox and arctic foxJOURNAL OF ANIMAL BREEDING AND GENETICS, Issue 2 2003J. Klukowska Summary This study compared polymorphism of nine canine-derived microsatellites (MS) (CPH1, CPH3, CPH6, CPH11, 2004, 2010, 2140, 2168 and 2319) in three species of the family Canidae. The DNA samples of 151 dogs, 53 arctic foxes and 91 red foxes were examined. The canine-derived primers did not amplify two MS (CPH1 and CPH11) in genome samples of the arctic fox. The most polymorphic MS in the studied species was the one named 2319. For majority of the loci mean allele size was higher in the dog than in two fox species. The genetic distances between the species were estimated using three formulas: DS, Da and (,,)2. The estimated distances between both fox species were the smallest, while those between the dog and the arctic fox were the largest. Zusammenfassung Genetische Distanz zwischen Hund, Rotfuchs und arktischen Fuchs auf der Basis von Mikrosatelliten Diese Arbeit vergleicht genetische Polymorphismen an neun vom Hund abgeleiteten Mikrosatelliten (CPH1, CPH3, CPH6, CPH11, 2004, 2010, 2140, 2168 und 2319) in drei Arten der Familie der Canidae. Es wurden DNA-Proben von 151 Hunden, 53 arktischer Füchse und 91 Rotfüchse untersucht. Zwei der vom Hund übertragenen Primer (CPH1 und CPH11) führten zu keiner Amplifikation beim arktischen Fuchs. Die meisten Allele innerhalb der untersuchten Arten zeigte der Mikrosatellit 2319. An den meisten Genorten wurde beim Hund eine größere mittlere Allelgröße beobachtet als bei den beiden Fuchsarten. Die genetische Distanz zwischen den Arten wurde mit den drei Maßen Ds, Da und (,µ)2 geschätzt. Zwischen arktischem Fuchs und Rotfuchs wurde die geringste, zwischen Hund und arktischen Fuchs die größte genetische Distanz, geschätzt. [source] Association of vasopressin 1a receptor levels with a regulatory microsatellite and behaviorGENES, BRAIN AND BEHAVIOR, Issue 5 2005E. A. D. Hammock Vasopressin regulates complex behaviors such as anxiety, parenting, social engagement and attachment and aggression in a species-specific manner. The capacity of vasopressin to modulate these behaviors is thought to depend on the species-specific distribution patterns of vasopressin 1a receptors (V1aRs) in the brain. There is considerable individual variation in the pattern of V1aR binding in the brains of the prairie vole species, Microtus ochrogaster. We hypothesize that this individual variability in V1aR expression levels is associated with individual variation in a polymorphic microsatellite in the 5, regulatory region of the prairie vole v1ar gene. Additionally, we hypothesize that individual variation in V1aR expression contributes to individual variation in vasopressin-dependent behaviors. To test these hypotheses, we first screened 20 adult male prairie voles for behavioral variation using tests that measure anxiety-related and social behaviors. We then assessed the brains of those animals for V1aR variability with receptor autoradiography and used polymerase chain reaction to genotype the same animals for the length of their 5, microsatellite polymorphism in the v1ar gene. In this report, we describe the results of this discovery-based experimental approach to identify potential gene, brain and behavior interrelationships. The analysis reveals that V1aR levels, in some but not all brain regions, are associated with microsatellite length and that V1aR levels in those and other brain regions correlate with anxiety-related and social behaviors. These results generate novel hypotheses regarding neural control of anxiety-related and social behaviors and yield insight into potential mechanisms by which non-coding gene polymorphisms may influence behavioral traits. [source] Genetic susceptibility to tobacco smoke toxicity and chronic obstructive pulmonary diseaseGERIATRICS & GERONTOLOGY INTERNATIONAL, Issue 1 2002Shinji Teramoto Because elderly patients with chronic obstructive pulmonary disease are often overlooked, screening efforts are at the moment directed at higher risk subjects such as heavy smokers with obstructive airways disease. Because only 10,20% of heavy smokers developed symptomatic airflow obstruction, a different genetic susceptibility to cigarette smoke-lung injury is implicated in the pathogenesis of chronic obstructive pulmonary disease. Several candidate gene polymorphisms are proposed as the genetic risk for the development of chronic obstructive pulmonary disease. The current candidates are the polymorphisms in the 3, non-coding region of the ,1-antitypsin gene, ,1-antichymotrypsin gene, tumor necrosis factor- , gene, microsomal epoxide hydrolase gene, and glutathione S- transferase P1 gene, and microsatellite polymorphism in the heme oxygenase-1 gene promoter. However, the results are variously reported between Japanese and Caucasians. The association studies of the polymorphisms with chronic obstructive pulmonary disease require further confirmation in different ethnic groups by other researchers using a large population. The current strategy and pitfalls of the gene explorations of chronic obstructive pulmonary disease are discussed. [source] Association of MHC class I chain related gene-A microsatellite polymorphism with the susceptibility to T1DM and LADA in Czech adult patientsINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 5 2005P. Novota Summary The results in this study suggest that microsatellite polymorphism within the transmembrane region of MIC-A gene is associated with genetic susceptibility to adult-onset of type 1 diabetes mellitus (T1DM), MIC-A5.1 allele, corrected P = 0.001, whereas it is not associated with latent autoimmune diabetes in adults (LADA) in Czech population. According to our findings, we can hypothesize that adult-onset T1DM and LADA may have partly different immunogenetic aetiopathogenesis. [source] Optimization of novel polymorphic microsatellites in muskox (Ovibos Moschatus) leads to an increased estimate of muskox microsatellite diversityMOLECULAR ECOLOGY RESOURCES, Issue 4 2004PETER J. VAN COEVERDEN Abstract Initial microsatellite studies suggested that muskoxen display the lowest microsatellite polymorphism in a large ungulate. We optimized 17 di-nucleotide microsatellites with longer repeats from a muskox DNA library and surveyed 18 animals from across their natural range. Loci with perfect repeats were more variable than imperfect loci: Hperfect = 0.504 ± 0.045 (± SE) vs. Himperfect = 0.067 ± 0.055. Our Hperfect estimate is higher than previous low estimates of HE = 0.018 and HE = 0.059. [source] Identification and characterization of microsatellites in eggplantPLANT BREEDING, Issue 3 2003T. Nunome Abstract The potential of microsatellite markers for use in genetic studies in eggplant, Solanum melongena, has been evaluated. A genomic library of eggplant was screened for GA and GT repeat motifs to isolate microsatellite clones. The frequency of each repeat motif in the eggplant genome was found to be every 3200 kb for GA repeats and every 820 kb for GT repeats. Sixty-one per cent of GT repeats were found to directly flank AT repeats. A total of 37 polymerase chain reaction (PCR) primer pairs were designed, 23 of which amplified a single product or several products. The level of microsatellite polymorphism was evaluated by using S. melongena lines and related Solanum species. Two to six alleles per primer pair were displayed in the S. melongena lines and two to 13 alleles were displayed in the Solanum relatives. Seven microsatellites showed polymorphism between parental lines of the mapping population and segregated in a codominant Mendelian manner. These microsatellite loci were distributed throughout the linkage map. [source] Association study between cannabinoid receptor gene (CNR1) and pathogenesis and psychotic symptoms of mood disorders,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 3 2001Shih-Jen Tsai MD Abstract Cannabis can induce mood change and sometimes psychotic symptoms in normal persons. In brain, the main active ingredient of cannabis acts via the cannabinoid CB1 receptor (CNR1) which is located on chromosome 6q14-15. Linkage studies have suggested the presence of a bipolar disorder susceptibility locus on chromosome 6q. In this population based association study, we tested the hypothesis that a microsatellite polymorphism in the promoter region of the CNR1 gene confers susceptibility to mood disorders and psychotic features. We genotyped the CNR1 gene is 154 mood disorder patients and 165 normal controls. The results showed that the triplet repeat polymorphism in the promoter region of the CNR1 gene was not likely to be involved in the pathogenesis or in the psychotic symptoms of mood disorders. © 2001 Wiley-Liss, Inc. [source] ORIGINAL ARTICLE: Leptin Gene (TTTC)n Microsatellite Polymorphism as well as Leptin Receptor R223Q and PPAR,2 P12A Substitutions are not Associated with Hypertensive Disorders in PregnancyAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 4 2010Annette Wiedemann Citation Wiedemann A, Vocke F, Fitzgerald JS, Markert UR, Jeschke U, Lohse P, Toth B. Leptin gene (TTTC)n microsatellite polymorphism as well as Leptin receptor R223Q and PPAR,2 P12A substitutions are not associated with hypertensive disorders in pregnancy. Am J Reprod Immunol 2010; 63: 310,317 Problem, Pregnancy-induced hypertension (PIH) affects up to 15% of all pregnancies. Disturbed placentation is one factor associated with PIH. Leptin and peroxisome proliferator activator receptors (PPAR) seem to play an important role in placentation, fetal development, and blood pressure regulation. Therefore, we investigated polymorphisms in the genes encoding leptin, the leptin receptor, and PPAR,2 in patients with PIH. Method of study, In this retrospective case,control study, 103 patients with PIH [gestational hypertension (GH) n = 39; preeclampsia n = 27; eclampsia n = 5; HELLP n = 32] and 100 controls were analyzed for the LEP tetranucleotide repeat (TTTC)n and the leptin receptor (LEPR) R223Q and PPAR,2 P12A substitutions. Statistical analysis was performed using the chi-square, Mann,Whitney U -, and Kruskal,Wallis tests (P < 0.05 significant). Results, The frequency of the three possible genotypes did not differ significantly between patients and controls [LEP (TTTC)n: P = 0.43; LEPR R223Q: P = 0.94; PPAR,2 P12A: P = 0.94]. However, postpartal diastolic blood pressure of PIH patients was significantly higher in homozygous carriers of the LEPR Q223-encoding allele as compared with patients carrying the wild-type allele (P < 0.01). Conclusion, Hypertensive disorders in pregnancy were not associated with the LEP, LEPR, and PPAR,2 polymorphisms studied. The role of other variations in the LEP and PPAR genes in the pathophysiology of PIH and in exacerbations are the objective of ongoing research. [source] Genetic polymorphisms of the bovine Fatty acid binding protein 4 gene are significantly associated with marbling and carcass weight in Hanwoo (Korean Cattle)ANIMAL GENETICS, Issue 4 2010S. H. Lee Summary The objective of this study was to investigate an association between polymorphisms in the FABP4 gene and phenotypic variation for marbling and carcass weight (CWT) in a population of Hanwoo steers. We re-sequenced 4.3 kb of the FABP4 gene region in 24 Hanwoo bulls and identified 16 SNPs and 1 microsatellite polymorphism. Of these 16 SNPs, three SNPs [g.2774G>C (intron I), g.3473A>T (intron II) and g.3631G>A (exon III, creating a p.Met >Val amino acid substitution)] were genotyped in 583 steers to assess their association with carcass traits. The g.3473A allele showed a significant increasing effect on CWT (P = 0.01) and the g.3631G allele was associated with higher marbling score (P = 0.006). One haplotype of these three SNPs (CAG) was significantly associated with CWT (P = 0.02) and marbling score (P = 0.05) and could potentially be of value for marker assisted selection in Hanwoo cattle. The CAG haplotype effect for CWT was larger (11.14 ± 5.03 kg) than the largest single locus effect of g.3473A>T (5.01 ± 2.2 kg). [source] No linkage of the interleukin-4 receptor locus on chromosome 16p11.2-12.1 with sarcoidosis in German multiplex familiesINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 3 2002A. Bohnert Summary We typed 241 members of 62 sarcoidosis families with 136 affected siblings for three single nucleotide polymorphisms of the interleukin-4 receptor alpha-chain gene (IL4R). Allele frequencies in patients were compared to those of healthy unrelated control individuals. The segregation of the three-point IL4R haplotypes completed by two flanking highly polymorphic microsatellite polymorphisms revealed no evidence for linkage of the IL4R gene locus with sarcoidosis. [source] Genetic structure and differentiation of 12 African Bos indicus and Bos taurus cattle breeds, inferred from protein and microsatellite polymorphismsJOURNAL OF ANIMAL BREEDING AND GENETICS, Issue 1 2005E.M. Ibeagha-Awemu Summary Level of genetic differentiation, gene flow and genetic structuring of nine Bos indicus and three Bos taurus cattle breeds in Cameroon and Nigeria were estimated using the genetic information from 16 microsatellite, five blood protein and seven milk protein markers. The global heterozygote deficit across all populations (Fit) amounted to 11.7% (p < 0.001). The overall significant (p < 0.001) deficit of heterozygotes because of inbreeding within breeds (Fis) amounted to 6.1%. The breeds were moderately differentiated (Fst = 6%, p < 0.001) with all loci except CSN1S2 contributing significantly to the Fst value. The 12 populations belong to two genetic clusters, a zebu and a taurine cluster. While inferred sub-clusters within the taurine group corresponded extremely well to predefined breed categorizations, no real sub-clusters, corresponding to predefined breeds, existed within the zebu cluster. With the application of prior population information, cluster analysis achieved posterior probabilities from 0.962 to 0.994 of correctly assigning individuals to their rightful populations. High gene flow was evident between the zebu populations. Positive and negative implications of the observed genetic structure of the breeds on their development, improvement and conservation are discussed. The study shows that the breeds are threatened by uncontrolled breeding and therefore are at risk to become genetically uniform in the future. This situation can be avoided by putting in place effective breeding and management measures aimed at limiting uncontrolled mating between the breeds and to preserve special characteristics, genetic as well as breed biodiversity. The first step towards realizing these goals might be to geographically demarcate the breeds. [source] Identification of microsatellite polymorphisms in an expressed portion of the rye genomePLANT BREEDING, Issue 1 2002B. Hackauf Abstract For the purposes of genetics and application the number of simple sequence repeat (SSR) markers in rye has to be increased significantly to cover the entire genome. To this end, more than 8000 publicly accessible rye cDNA sequences from anthers, cold-stressed leaves, and aluminium-stressed and unstressed roots were exploited as a resource for SSR marker development. A total of 157 Secale cereale micro-satellite (SCM) loci out of 528 SSRs comprising di-, tri- and tetra-nucleotide motifs could be assayed on automated sequencers. One-hundred expressed sequence tag (EST)-derived SCM loci displayed a length polymorphism among a sample of 15 rye accessions. Of the SCM, 45% could be associated with proteins of known or unknown function. Recently published ESTs from different rye tissues proved to be a valuable resource for SSR marker development in rye. [source] |