Search results for "microsatellite"

showing 5 items of 425 documents

Interleukin 10 polymorphisms in ankylosing spondylitis.

2003

Genetic polymorphisms of the IL10 promoter region have been implicated in many autoimmune diseases, including seronegative spondyloarthropathies. We studied three SNPs (IL10-1087, -824, and -597) and two microsatellites (IL10R and IL10G) lying within the promoter region of IL10 for association with susceptibility to and clinical manifestations of ankylosing spondylitis (AS), a common form of spondyloarthritis. Four hundred and sixty-eight individuals from 182 Finnish families affected with AS were studied. No association between individual IL10 promoter region polymorphisms or marker haplotype was observed with susceptibility to AS, but weak association was noted between the IL10-597 and -8…

musculoskeletal diseasesImmunologychemical and pharmacologic phenomenaSingle-nucleotide polymorphismBiologyPolymorphism Single Nucleotideimmune system diseasesparasitic diseasesGeneticsmedicineSNPHumansSpondylitis AnkylosingAlleleSpondylitisGenetics (clinical)AllelesGenetic associationGeneticsAnkylosing spondylitisPolymorphism GeneticHaplotypehemic and immune systemsmedicine.diseaseInterleukin-10ImmunologyBASFIMicrosatellite Repeats
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A possible susceptibility locus for bipolar affective disorder in chromosomal region 10q25--q26.

2000

In an attempt to identify susceptibility loci for bipolar affective disorder, we are currently conducting a systematic genome screen with highly polymorphic microsatellite markers at an average marker spacing of 10 cM in a series of 75 families, comprising 66 families from Germany, eight families from Israel, and one family from Italy. The families were ascertained through index cases with bipolar affective disorder. The distribution of diagnoses is as follows: 126 individuals with bipolar I disorder, 40 with bipolar II disorder, 14 with schizoaffective disorder of the bipolar type, 40 individuals with recurrent unipolar depression, 51 with a minor psychiatric diagnosis, and two individuals…

musculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesBipolar DisorderLocus (genetics)Nuclear FamilyCellular and Molecular NeurosciencemedicineHumansGenetic Predisposition to DiseaseBipolar disorderMolecular BiologyGeneticsFamily HealthChromosomes Human Pair 10Chromosome MappingGene Localizationmedicine.diseaseSib pairseye diseasesbody regionsPsychiatry and Mental healthChromosomal regionSusceptibility locussense organsPsychologyManic depressionMicrosatellite RepeatsMolecular psychiatry
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Testing for Lynch Syndrome in Endometrial Carcinoma: From Universal to Age-Selective MLH1 Methylation Analysis

2022

Simple Summary International guidelines recommend universal screening of endometrial carcinoma patients for Lynch syndrome, a hereditary cancer predisposition syndrome. Screening is based on mismatch repair protein immunohistochemistry and reflex MLH1 methylation analysis to exclude the likely sporadic cases of MMR deficiency. As sporadic MLH1 protein loss is common in endometrial carcinoma, the ability to target methylation testing would save efforts and costs. We discovered that limiting methylation testing to patients under 65 years would have significantly reduced the testing effort while maintaining a low false negative rate for MLH1-LS detection (0% and 3% in our clinic and registry-b…

perinnölliset tauditcongenital hereditary and neonatal diseases and abnormalitiesCancer Researchseulontatutkimusendometrial carcinoma; Lynch syndrome screening; MLH1 immunohistochemistry; <i>MLH1</i> methylation analysisMICROSATELLITE INSTABILITYMUTATIONS3122 Cancersikäryhmätnutritional and metabolic diseasesendometrial carcinomaCANCERdigestive system diseasesREGIONDNA-metylaatioMLH1 methylation analysiskohdunrungon syöpäOncologyLynch syndrome screeningMLH1 immunohistochemistryLynchin oireyhtymäCancers
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Sex-biased dispersal and kin aggregation on leks in the black grouse (Tetrao tetrix)

2007

relatednessTetrao tetrixvalintamicrosatelliteteeriAMOVAsukulaisuusgenetic structurephilopatrykin selection
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Genetic variability of the blue and red shrimp Aristeus antennatus in the Western Mediterranean Sea inferred by DNA microsatellite loci

2012

Genetic variation at eight microsatellite loci was studied in nine populations of the blue and red shrimp Aristeus antennatus to investigate whether distinct stocks are present in the Western Mediterranean Sea. A high level of gene flow and no evidence of genetic partitioning were discovered. No significant variation was found (FST = 0.00673, P-value = 0.067) even when shrimps from exploited and those from deep-water unexploited grounds were compared. No evidence of reduction or expansion of population size in the recent past was found, as indicated by the bottleneck and interlocus g-tests. Our results are consistent with previous studies using mitochondrial gene methods and allozymes, indi…

sexbiased dispersalpopulation geneticMediterranean SeaSettore BIO/05 - ZoologiaAristeus antennatus; DNA microsatellite; Mediterranean Sea; population genetics; sexbiased dispersal; shrimpDNA microsatelliteshrimpAristeus antennatu
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