Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Genetic Markers”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed1992

[Biological alcohol markers. Genetic markers for familial alcoholism and markers for the detection of harmful alcohol consumption].

Existing biological markers of alcoholism and excessive alcohol consumption are of poor sensitivity and specificity, and new, improved markers are needed. Owing to the genetic contribution to the development of alcoholism, as demonstrated in family and adoption studies, a search has been initiated for 'preventive' or genetic markers. In addition, other new biochemical markers have been introduced, and results so far obtained with CDT (carbohydrate deficient transferrin) in the detection of alcoholics have been promising. However, the clinical and scientific implications of these new markers need to be elucidated in greater detail.

Adenylyl Cyclases↗
PubMed1995

Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers.

Genetic markers based upon PCR amplification of short tandem repeat-containing sequence tagged sites (STSs) have become the standard for genetic mapping. We have completed a survey based on the direct isolation of representative members of each of the 10 trinucleotide repeat classes to determine their relative abundance, repeat size distribution, and general utility as genetic markers. Trinucleotide repeats, depending on the repeat class, are one to two orders of magnitude less frequent than (AC)n repeats. The average size of trinucleotide repeats sequenced was less than 15 repeat units in length, and only three of the STSs developed for this study demonstrated more than 25 repeats units. The (AAT)n class of repeats are the most abundant and also the most frequently polymorphic. Other classes of trinucleotide repeat classes observed to be frequently polymorphic include (AAC)n, (ACT)n, (ATC)n and (AAG)n; however, the relative abundance of these classes is less than that observed for the (AAT)n class of repeats. Based upon this initial survey, we have initiated saturation cloning of the (AAT)n class of repeats. At the time of submission of this manuscript, we have developed, as part of the Cooperative Human Linkage Center (CHLC), more than 415 new high heterozygosity (AAT)n genetic markers (more than two alleles in four individuals) and 200 new low heterozygosity (AAT)n STSs from this larger screening effort combined with the initial survey.

Base Sequence↗
PubMed1999

Speed congenics: accelerated genome recovery using genetic markers.

Genetic markers throughout the genome can be used to speed up 'recovery' of the recipient genome in the backcrossing phase of the construction of a congenic strain. The prediction of the genomic proportion during backcrossing depends on the assumptions regarding the distribution of chromosome segments, the population structure, the marker spacing and the selection strategy. In this study simulation was used to investigate the rate of recovery of the recipient genome for a mouse, Drosophila and Arabidopsis genome. It was shown that an incorrect assumption of a binomial distribution of chromosome segments, and failing to take account of a reduction in variance in genomic proportion due to selection, can lead to a downward bias of up to two generations in the estimation of the number of generations required for the formation of a congenic strain.

Animals↗
PubMed1999

Discriminating among cattle breeds using genetic markers.

Genetic markers provide a potentially powerful means of identifying the breed of individual animals. In this study diallelic and microsatellite loci were compared for their efficiency in discriminating among cattle breeds. Data were simulated for seven European cattle breeds using allele frequencies estimated at 20 microsatellite and 30 diallelic markers. Animals were assigned to the breed for which their genotype had the highest probability, and the power of the method assessed by estimating the error rate or proportion of animals misclassified. The number of markers required for discriminating among pure, or both pure and crossbreed, animals was investigated using either randomly sampled markers or markers selected on individual error rate. The relationship between individual marker variability and discriminatory power was also investigated. Microsatellite markers were found to be more powerful than diallelic markers for distinguishing among the breeds. The most discriminatory markers were those with the highest average heterozygosity and observed number of alleles. The number of markers needed to achieve a particular error rate could be reduced by selecting markers with the lowest individual error rates. Discrimination among both crossbreeds and pure breeds required approximately three times as many markers as discrimination among pure breeds alone.

Animals↗
PubMed1995

Linkage and association to genetic markers.

Genetic markers that are sufficiently polymorphic (as measured by their heterozygosities) can be used in linkage and association analyses to detect Mendelian segregation underlying disease phenotypes. Each type of analysis can either be based on a specific genetic model or not make any assumptions about the mode of inheritance of the disease. Principles underlying these methods are reviewed, and the assumptions underlying them stressed. Association analyses are more powerful, provided there is linkage disequilibrium between the marker and disease loci; however, only linkage analyses have power in the absence of such disequilibrium. For this reason, models that allow for both kinds of tests are preferred, and such models must adequately approximate the complexity of the disease being studied.

Chromosome Mapping↗
PubMed1976

Human tumors studied with genetic markers.

Genetic marker systems have been employed to investigate the origin and development of many human tumors. The type of information already gained with such systems includes the probable single cell origin of chronic myelocytic leukemia in a marrow stem cell. The G-6-PD system has also confirmed the hypothesis that at least some hereditary and viral tumors have multiple cell origin. However, Burkitt lymphoma, the malignancy in man for which there is a great amount of circumstantial evidence for a viral cancer, has a clonal origin. Of particular interest is the demonstration that early relapses after remissions of Burkitt lymphoma represent reemergence of the original malignant cell lines, whereas some late recurrences may be the result of newly induced malignant clones. Similarly, some recurrences of acute lymphoblastic leukemia in patients treated with marrow transplantation may be new occurrences of disease. These observations have important implications for the etiology and pathogenesis of Burkitt lymphoma and acute lymphoblastic leukemia.

Burkitt Lymphoma↗
PubMed2005

Genetic evaluation using parentage information from genetic markers.

Genetic evaluation relies on pedigree information to account for the trait information on individuals and their relatives. Recording pedigrees may place unfavorable restrictions on the management of breeding populations, such as the use of single-sire mating groups and the observation of parturition. The use of DNA marker information is an alternative method to identify parents, but it is difficult to assign the parents unambiguously for all progeny in extensively farmed livestock without the use of very many markers. We present methods that use DNA information on parentage within a genetic evaluation system that allow for genotyping errors and for the parentage information to be incomplete, with probabilities assigned to possible parent pairs (i.e., fractional parentage assignment). Two of these methods use a computing strategy that circumvents the high memory requirements associated with the application of previous methods designed for use with fractional parentage assignment. This strategy has an additional advantage of allowing the same statistical models to be used in the evaluation as with recorded pedigrees. The use of DNA marker-based parentage for genetic evaluation is associated with lower genetic gain (at the same survival levels) than by using the true pedigree. This decrease in gain depends on a number of factors, including trait heritability and the DNA markers used. The methods we have described show how DNA marker information could be used to replace traditional pedigree recording.

Animals↗
PubMed2005

Intron-flanking EST-PCR markers: from genetic marker development to gene structure analysis in Rhododendron.

With a long-term goal of constructing a linkage map of Rhododendron enriched with gene-specific markers, we utilized Rhododendron catawbiense ESTs for the development of high-efficiency (in terms of generating polymorphism frequency) PCR-based markers. Using the gene-sequence alignment between Rhododendron ESTs and the genomic sequences of Arabidopsis homologs, we developed 'intron-flanking' EST-PCR-based primers that would anneal in conserved exon regions and amplify across the more highly diverged introns. These primers resulted in increased efficiency (61% vs. 13%; 4.7-fold) of polymorphism-detection compared with conventional EST-PCR methods, supporting the assumption that intron regions are more diverged than exons. Significantly, this study demonstrates that Arabidopsis genome database can be useful in developing gene-specific PCR-based markers for other non-model plant species for which the EST data are available but genomic sequences are not. The comparative analysis of intron sizes between Rhododendron and Arabidopsis (made possible in this study by aligning of Rhododendron ESTs with Arabidopsis genomic sequences and the sequencing of Rhododendron genomic PCR products) provides the first insight into the gene structure of Rhododendron.

Arabidopsis↗
PubMed2005

[The multiplex analysis of epigenetic markers and genetic markers by post-digestion mutagenically separated PCR].

OBJECTIVE: To establish a novel method for the multiplex analysis of the methylation and single nucleotide polymorphism (SNP). METHODS: The imprinted SNP rs220028 was chosen as a model. Genomic DNA, after being digested with methylation sensitive restriction enzyme, were typed by mutagenically separated PCR (MS-PCR). The polymorphism of restriction site was excluded by PCR-RFLP. RESULTS: By post-digestion MS-PCR, the methylated allele was detected selectively, the maternal origin of which was confirmed by pedigree analysis; A=0.5085, G=0.4915,PIC=0.3749. CONCLUSION: The multiplex analysis of methylation markers and SNP can be achieved by post-digestion MS-PCR. The imprinted SNP locus rs220028 is a potentially useful marker in screening Prader-Willi/Angelman syndrome.

DNA Methylation↗
PubMed2006

Distribution of microsatellites in the genome of Medicago truncatula: a resource of genetic markers that integrate genetic and physical maps.

Microsatellites are tandemly repeated short DNA sequences that are favored as molecular-genetic markers due to their high polymorphism index. Plant genomes characterized to date exhibit taxon-specific differences in frequency, genomic location, and motif structure of microsatellites, indicating that extant microsatellites originated recently and turn over quickly. With the goal of using microsatellite markers to integrate the physical and genetic maps of Medicago truncatula, we surveyed the frequency and distribution of perfect microsatellites in 77 Mbp of gene-rich BAC sequences, 27 Mbp of nonredundant transcript sequences, 20 Mbp of random whole genome shotgun sequences, and 49 Mbp of BAC-end sequences. Microsatellites are predominantly located in gene-rich regions of the genome, with a density of one long (i.e., > or = 20 nt) microsatellite every 12 kbp, while the frequency of individual motifs varied according to the genome fraction under analysis. A total of 1,236 microsatellites were analyzed for polymorphism between parents of our reference intraspecific mapping population, revealing that motifs (AT)n, (AG)n, (AC)n, and (AAT)n exhibit the highest allelic diversity. A total of 378 genetic markers could be integrated with sequenced BAC clones, anchoring 274 physical contigs that represent 174 Mbp of the genome and composing an estimated 70% of the euchromatic gene space.

Alleles↗
PubMed2001

Use of a genetic marker to examine genetic interaction among subpopulations of pink salmon (Oncorhynchus gorbuscha).

In 1979 and 1981, a genetic marker was bred into one of the five identifiable subpopulations of pink salmon [Oncorhynchus gorbuscha (Walbaum)] in the Auke Lake drainage in Southeast Alaska. As a result of the marking effort, the frequencies of two malate dehydrogenase (MDH-B1, 2*) alleles were changed in the marked subpopulation, but not in other subpopulations that spawn at different times or places. Between 1983 and 1989, the marker allele frequencies were monitored in many of these subpopulations and in early- and late-run pink salmon spawning in nearby Waydelich Creek, located approximately 1 km away. Changes in allele frequencies at MDH-B1, 2*, used to obtain direct estimates of average migration rates (m) from the marked to the unmarked subpopulations, revealed little or no introgression into early subpopulations or into nearby Waydelich Creek. Moreover, spatially distinct late-run Auke Creek subpopulations were not immediately overrun by the more abundant marked subpopulation. These observations suggest that genetic isolation exists between temporally distinct spawning runs and that small temporal and spatial (or ecological) differences contribute to population structure. These observations should be considered in taking actions that affect conservation and harvest management or extensive culture of salmonids.

Alleles↗
PubMed1996

Genetic markers and quantitative genetic variation in Medicago truncatula (Leguminosae): a comparative analysis of population structure.

Two populations of the selfing annual Medicago truncatula Gaertn. (Leguminoseae), each subdivided into three subpopulations, were studied for both metric traits (quantitative characters) and genetic markers (random amplified polymorphic DNA and one morphological, single-locus marker). Hierarchical analyses of variance components show that (1) populations are more differentiated for quantitative characters than for marker loci, (2) the contribution of both within and among subpopulations components of variance to overall genetic variance of these characters is reduced as compared to markers, and (3) at the population level, within population structure is slightly but not significantly larger for markers than for quantitative traits. Under the hypothesis that most markers are neutral, such comparisons may be used to make hypotheses about the strength and heterogeneity of natural selection in the face of genetic drift and gene flow. We thus suggest that in these populations, quantitative characters are under strong divergent selection among populations, and that gene flow is restricted among populations and subpopulations.

Biological Evolution↗
PubMed1996

Neutral genetic markers and conservation genetics: simulated germplasm collections.

This study examines the use of neutral genetic markers to guide sampling from a large germplasm collection with the objective of establishing from it a smaller, but genetically representative sample. We simulated evolutionary change and germplasm sampling in a subdivided population of a diploid hermaphrodite annual plant to create an initially large collection. Several strategies of sampling from this collection were then compared. Our results show that a strategy based on information obtained from marker genes led to retention of the maximum number of neutral and nonneutral alleles in the smaller sample. This occurred when demes were composed of self-fertilizing individuals or when no migration occurred among demes, but not when demes of an outcrossing population were connected by high levels of migration.

Algorithms↗
PubMedDate not supplied

Insights into population ecology and sexual selection in snakes through the application of DNA-based genetic markers.

Hypervariable genetic markers have revolutionized studies of kinship, behavioral ecology, and population biology in vertebrate groups such as birds, but their use in snakes remains limited. To illustrate the value of such markers in snakes, we review studies that have used microsatellite DNA loci to analyze local population differentiation and parentage in snakes. Four ecologically distinct species of snakes all show evidence for differentiation at small spatial scales (2-15 km), but with substantial differences among species. This result highlights how genetic analysis can reveal hidden aspects of the natural history of difficult-to-observe taxa, and it raises important questions about the ecological factors that may contribute to restricted gene flow. A 3-year study of genetic parentage in marked populations of the northern water snake showed that (1) participation in mating aggregations was a poor predictor of genetic-based measures of reproductive success; (2) multiple paternity was high, yet there was no detectable fitness advantage to multiple mating by females; and (3) the opportunity for selection was far higher in males than in females due to a larger variance in male reproductive success, and yet this resulted in no detectable selection on morphological variation in males. Thus genetic markers have provided accurate measures of individual reproductive success in this species, an important step toward resolving the adaptive significance of key features including multiple paternity and reversed sexual size dimorphism. Overall these studies illustrate how genetic analyses of snakes provide previously unobtainable information of long-standing interest to behavioral ecologists.

Animals↗
PubMed1967

The genetic control of gamma-globulin heavy chains. Studies of the major heavy chain subgroup utilizing multiple genetic markers.

The genetic control of gammaG1-heavy chains was investigated by taking advantage of two recently described genetic antigens, Gm(z) and Gm(y), both produced by heteroimmunization of rabbits with myeloma proteins. These were studied in conjunction with known genetic markers, Gm(a) and Gm(f). The results indicated that among Caucasians there are two major allelic genes, Gm(za) and Gm(fy), coding for distinct varieties of gammaG1-heavy chains. Each of these contains a pair of genetic antigens which are located on different fragments of the chain and can be separated by enzymatic splitting with papain. The different areas of the heavy chains appear to be under the control of the same gene. In Mongoloid populations a grouping of three genetic antigens, Gm(f), (y), and (a), was found on isolated myeloma proteins and normal gamma-globulins indicating the presence of a Gm(fya) gene. The possible genetic events leading to the contrasting Caucasian and Mongoloid genes are discussed. In the gamma-globulin system the occurrence of multiple genetic antigens in different positions of the same heavy chains is the general rule. A better understanding of the relationships between the genes for the gammaG1-subgroup to those for the gammaG2- and gammaG3-subgroup has been obtained through the use of the multiple genetic markers. Strong evidence was obtained for intergenic crossover mechanisms to explain racial differences in the relationships of these genes as well as certain unusual gene complexes found through family studies. Further evidence was obtained for mapping the closely linked genes for the three subgroups in a specific order.

Black or African American↗