• Dominant optic atrophy mapped to chromosome 3q region. (nih.gov)
  • Positive lod score values were obtained for chromosome 6q22.31-q24.1, with evidence of three homozygous intervals. (bmj.com)
  • It is noteworthy that type II collagen and vitamin D receptor genes map in the same region on chromosome 12q13.11, according to the UCSC Genome Browser database. (bmj.com)
  • Significant evidence of linkage was obtained on chromosome 4q22 (LOD 3.33) and suggestive evidence of linkage at 8q13-21 (LOD 2.29) with the combined music test scores, using variance component linkage analyses. (bmj.com)
  • Linkage analysis mapped the underlying gene to a region on chromosome 1q22-q23 with a maximum two-point LOD score of 2.036. (nih.gov)
  • A genome-wide linkage analysis did not indicate or exclude linkage to the region on chromosome 12 to which CNA1 has been previously mapped, and did not provide a single or multipoint LOD score greater than 2.0 for any of the 400 microsatellite markers. (llu.edu)
  • Foremost among these was the detection of very strong evidence for linkage of forearm BMD to a region on chromosome 4p (multipoint lod score = 4.3). (umaryland.edu)
  • Despite considerable ongoing effort toward the identification of chromosome regions affected in autism and the characterization of many potential gene candidates, only a few genes have been reproducibly shown to display specific mutations that segregate with autism, likely because of the complex polygenic nature of this syndrome. (neurotransmitter.net)
  • Linkage was established for chromosome 9q13-q22 with a maximum multipoint lod score of 4.2, with the locus placed between D9S153 and D9S152. (dcmproject.com)
  • Because of the large marker spacing in the initial genome scan, the candidate region on chromosome 20 spanned 25 cM, corresponding to chromosomal bands 20p12.2-q11.21. (findzebra.com)
  • 2002) determined that a region on chromosome 20p showed the same pattern. (findzebra.com)
  • 2004) narrowed the AD candidate region on chromosome 20 to an 11.8-cM region between markers D20S174 and D20S471, which includes the CST3 gene. (findzebra.com)
  • A region on human chromosome 11q is syntenic to this region on mouse chromosome 9. (ox.ac.uk)
  • We have used a set of polymorphic DNA markers from chromosome 11q to investigate this region for linkage to a susceptibility gene in 81 multiplex diabetic pedigrees. (ox.ac.uk)
  • We were able to exclude the presence of a susceptibility gene (location scores less than -2) throughout greater than 90% of the chromosome 11q homology region, under the assumption that the susceptibility factor would cause greater than 50% of affected sib pairs to share two alleles identical by descent. (ox.ac.uk)
  • Fine-mapping of a 2-Mb region on chromosome D3 associated with five stable QTLs between Marker25958 and Marker25963 revealed that lines containing alleles derived from CCRI36 in this region exhibited smaller phenotypes and earlier maturity. (biomedcentral.com)
  • We also carried out computer simulations to assess the empirical type I error rates of these meta-analysis methods.Our analyses provided modest evidence for type 2 diabetes-predisposing variants on chromosomes 4, 10, and 14 (using LOD scores or truncated p values), or chromosome 10 and 16 (using ranks). (ox.ac.uk)
  • In linkage studies in which multiple related traits (such as obesity, diabetes, and hypertension) are analyzed, it is often of interest to see if several of the traits have linkage signals around a common region, often done by simply visualizing the LOD scores along a chromosome. (biomedcentral.com)
  • A parametric LOD-score of 3.31 was observed to get a 4.4 Mb interval on chromosome 12. (bibf1120.com)
  • Significant linkage was found on chromosome 19p for a series of microsatellite markers, with a maximum two-point LOD score of 3.59 at θ = 0.0 for marker D19S878. (ucc.ie)
  • Recombination events, identified by haplotype analysis, define a genetic region of 6.57 cM on chromosome 19p13.3, corresponding to an interval of 2.5 Mb. (ucc.ie)
  • We obtained conclusive linkage with chromosome 17q21 markers with a maximum multi-point LOD score of 5.51 at D17S951 and identified a candidate region of 4.8 cM between D17S1787 and D17S958 containing MAPT. (ox.ac.uk)
  • Of the 1425 markers, 372 were mapped on 21 linkage groups involving 14 chromosomes with 3.0 LOD scores. (usda.gov)
  • Composite interval mapping (CIM) was conducted and ten QTLs were identified including four major QTLs controlling SKCS HI harboring three genomic regions located on 1B, 4B and 5A chromosomes. (usda.gov)
  • By the genetic linkage analysis this study shows that the phenotype hyperlipidemia has possible candidate gene regions on chromosomes 2, 4, 8 and 17. (fu-berlin.de)
  • RESULTS: For both the microsatellite and SNP markers, linkage analysis suggested the involvement of a locus or loci proximal to the telomeric regions of chromosomes 2q and 7p, with both regions generating a LOD* score of 3.0 using a nonparametric identity by descent relative sharing method. (duke.edu)
  • CONCLUSIONS: The regions with the strongest evidence for linkage map proximal to the telomeres on these two chromosomes. (duke.edu)
  • The strongest linkage peaks, each with significant or suggestive two-point LOD scores and multipoint LOD score support, were on chromosomes 5q31 (maximum two-point LOD = 4.45), 6q12 (maximum two-point LOD = 3.64), 7q33 (maximum two-point LOD = 3.09), and 8q24 (maximum two-point LOD = 3.67), with the latter not overlapping with previously reported strongest linkage region for male sexual orientation on pericentromeric chromosome 8. (northwestern.edu)
  • 1997) found strong evidence of linkage on chromosomes 20 (lod score = 4.09) and 21 (lod score = 5.9). (findzebra.com)
  • RESULTS: The strongest evidence for linkage was detected on chromosomes 13 (LOD 1.6). (ox.ac.uk)
  • Other regions showing a LOD score greater than 1 were observed on chromosomes 3, 5, 11, 12 and 15. (ox.ac.uk)
  • In addition, 55 QTL coincidence regions representing more than 60 % of total QTLs were found on 22 chromosomes, which indicated that several earliness-related traits might be simultaneously improved. (biomedcentral.com)
  • In order to localize chromosomally the gene underlying isolated congenital nail dysplasia, linkage to the known keratin gene cluster regions on chromosomes 12q12 and 17q21 was ruled out first. (mdc-berlin.de)
  • The maximum multipoint lod score of 3.28 was obtained in only one interval, between markers D6S1699 and D6S314. (bmj.com)
  • The major contribution of the 4q22 locus was obtained for the KMT (LOD 2.91). (bmj.com)
  • A model that included current age and the number of E2 alleles at the APOE locus as covariates gave a lod score of 4.1. (findzebra.com)
  • The signal on 20p was near the location of the gene encoding cystatin C. Two-locus analysis provided evidence of strong epistasis between 20p and the APP region, limited to the oldest age group and to those lacking E4 alleles at the APOE locus. (findzebra.com)
  • The data were investigated by maximization of lod scores over genetic models and by multiple-locus affected-sib-pair analysis. (ox.ac.uk)
  • Theoretical estimates of the power to map susceptibility genes with a high-resolution map of linked markers in a candidate region were made, using HLA as a model locus. (ox.ac.uk)
  • Linkage was determined by genotyping microsatellite makers and calculating logarithm of the odds (LOD) scores. (molvis.org)
  • With a sample of 262 densely affected families, a peak logarithm of odds (LOD) score for alcohol dependence of 2.9 was observed at D7S1799. (wustl.edu)
  • Multipoint logarithm of odds (LOD) scores were calculated using parametric and nonparametric methods. (lu.se)
  • A maximum two point Logarithm of the odds (LOD) score of 4.16 was obtained with marker D14S284 at θ =0. (org.pk)
  • LOD stands for logarithm of the odds (to the base 10). (definithing.com)
  • Linkage was demonstrated between the disease gene (OPA1) and the microsatellite markers D3S1314, D3S1262, D3S1265 and D3S1601, with the highest Lod score to D3S1601 Z=11.75. (nih.gov)
  • RFLPs and microsatellite markers provide patterns of DNA polymorphisms, which can be interpreted as residing in a heterozygous region or a homozygous region of the genome. (wikipedia.org)
  • Efforts are in progress to narrow down the genomic regions harboring major QTLs controlling super soft kernel texture to identify closely associated markers with the trait using fine mapping approach. (usda.gov)
  • Out of 339 markers, ten best markers were identified with high range of PVE (15.0-19.3%) including three commonly identified regions by CIM. (usda.gov)
  • In contrast, a highly significant linkage was detected with a number of markers located in the vicinity of the type I keratin gene cluster on band 17q21, with maximum 2-lod scores of 4.16 and 3.717 for the markers D17S1787 and D17S1886, respectively. (medscape.com)
  • [ 4 ] The genetic defect appears to be a region of the gene encoding the KRT14 nonhelical head (E1/V1) domain located between the microsatellite markers D17S798 and D17S957, which are separated by approximately 26.97 cM. (medscape.com)
  • A maximum LOD score of 5.33 was obtained with microsatellite markers D11S916 and D11S4207. (shengsci.com)
  • Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. (shengsci.com)
  • Significant linkage (LOD score 3.31) was found to a region flanked by markers DXS8026 and DXS106 (44-67 Mb from Xpter) that includes the centromere. (qxmd.com)
  • Since the candidate gene approach was unsuccessful, the map refinement of the region was carried out using new genetic markers which became available in the data banks. (sissa.it)
  • Linkage to multiple 1q24-25 markers was strongly rejected for the sample as a whole (lod scores at theta = 0 ranged from -30.83 to -18.42). (elsevierpure.com)
  • We now report the results of an extended linkage analysis including 95 new multiplex prostate cancer families and 9 additional microsatellite markers resulting in a maximum LOD score of 2.99 at approximately 81-82 cM for all 453 pedigrees. (johnshopkins.edu)
  • Inclusion of the 9 additional markers significantly reduced the size of the candidate region, as defined using a 1-LOD support interval, especially when focusing analyses on subsets of pedigrees with four or more confirmed affecteds or average age of diagnosis less than or equal to 65 years. (johnshopkins.edu)
  • One family contributed suggestive LOD scores (LOD 2.63 to 3.03, dominant model) at all these regions, without consistent evidence of a tumour suppressor gene. (lu.se)
  • Although our findings do not entirely exclude a mutation in a yet unanalyzed region of MAPT, the apparent absence of MAPT mutations combined with the lack of tau pathology is highly suggestive for another defective gene at 17q21 responsible for FTD in this family. (ox.ac.uk)
  • A region of the genome is considered identical by descent if contiguous SNPs share the same genotype. (wikipedia.org)
  • Since affected individuals will probably be homozygous in the regions, looking at SNPs in a region is an adequate marker of regions of homozygosity and heterozygosity. (wikipedia.org)
  • The most stringent authentication criteria proposed for ancient DNA, such as independent replication, amino-acid analysis, quantitation of template molecules, multiple extractions and cloning of PCR products, have been followed to obtain reliable sequences from the mtDNA hypervariable region 1 (HVR1), as well as some haplogroup diagnostic SNPs. (blogspot.com)
  • We analyzed commonly reported European and Asian obesity-related gene variants in a Mexican-Mestizo population through each single nucleotide polymorphism (SNP) and a genetic risk score (GRS) based on 23 selected SNPs. (shengsci.com)
  • To follow up on this linkage region, we systematically screened single nucleotide polymorphisms (SNPs) across a 2 LOD support interval surrounding the alcohol dependence peak. (wustl.edu)
  • Methods: The SNPs were selected from the HapMap Phase I CEPH data to tag linkage disequilibrium bins across the region. (wustl.edu)
  • Across the 18-Mb region, genotyped by the Center for Inherited Disease Research (CIDR), 1340 SNPs were analyzed. (wustl.edu)
  • Family-based association analyses were used to identify associated variants in the linkage regions, with a cluster of SNPs (minimum association p = 1.3 × 10 -8 ) found at the 5q31 linkage peak. (northwestern.edu)
  • METHODS: Multipoint linkage analysis for BMI was conducted using both a variance component approach and a model-free regression method, and the resulting LOD scores were compared. (ox.ac.uk)
  • The 3-unit support interval ranged from marker D7S2209 to marker D7S2435, spanning a 30.1 Mb region on the sequence-based physical map. (elsevierpure.com)
  • Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval. (ox.ac.uk)
  • A novel subset analysis of only those families (n = 147) that had four or more prostate cancer cases and an average age of prostate cancer diagnosis ≤ 65 years results in a maximum LOD score of 5.49 at 78 cM with a 1-LOD support interval of 10 cM. (johnshopkins.edu)
  • maximum LOD score [Z(max)] 4.99 at maximum recombination fraction [theta(max)] .00), identifying FDC-CDM as a genetically distinct disease. (duke.edu)
  • To detect linkage between a trait and a marker, Morton (1955) proposed to calculate the lod score z(theta 1) at a given value theta 1 of the recombination fraction. (shengsci.com)
  • 65 years, the lod scores at theta = 0 remained less than -4.0. (elsevierpure.com)
  • If enough of the genome sequence is known, that region is searched for candidate genes. (wikipedia.org)
  • Without the aid of the whole-genome sequences, pre-genomics investigations looked at select regions of the genome, often with only minimal knowledge of the gene sequences they were looking at. (wikipedia.org)
  • Modern day SNP arrays are used to survey the genome and identify large regions of homozygosity. (wikipedia.org)
  • Analysis of the co-localized genome region has shown that the putative genes are involved in light and hormones and will facilitate peanut growth habit molecular breeding and study of peanut domestication. (frontiersin.org)
  • A high density SNP-based genome-wide linkage scan was performed, and causative mutations were determined by sequencing of candidate genes in the linkage disequilibrium region. (nih.gov)
  • Genetic linkage was used to exclude regions of the genome known to be linked to dilated cardiomyopathy and muscular dystrophy phenotypes and to confirm genetic heterogeneity of these disorders. (duke.edu)
  • Our simulation results suggested that uneven marker density across studies results in substantial variation in empirical type I error rates for all meta-analysis methods, but that 2 cM bins and scores that make more explicit use of linkage evidence, especially the truncated p values, reduce this problem.We identified regions modestly linked with type 2 diabetes by summarizing results from 23 autosomal genome scans. (ox.ac.uk)
  • Therefore, the identification of genome regions which are linked to BYDV resistance and the application of this knowledge in marker assisted selection (MAS) programs of maize would allow a faster progress in breeding of BYDV resistant maize. (biomedcentral.com)
  • The heterogeneity LOD (HLOD) at the 6q, 2p and 14q loci in all families was 3.27, 1.66 and 1.24, respectively. (lu.se)
  • Ein maximaler LOD-Score von 4,20 wurde für die Marker D7S471 und D7S501 erzielt. (uni-wuerzburg.de)
  • Sobel ELange K Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. (jamanetwork.com)
  • A cumulative lod score value of 3.69 was obtained with the polymorphic marker D9S153. (sissa.it)
  • The maximum two-point LOD score was found for the marker at D17S1840 (Z(max) = 6.72 at Θ(max) = 0.00). (mdc-berlin.de)
  • Videman et al , 3, 4 investigating the role of the Taq I intragenic polymorphism in the coding region of the vitamin D receptor gene in a cohort of 142 men affected by lumbar spine degeneration, identified a strong association with disc degeneration. (bmj.com)
  • This is the first time that disc herniation and the associated neurological syndrome has been linked to a human chromosomal region. (bmj.com)
  • Linkage analysis provided a maximum lod score of 3.77 for the 10q21-q23 chromosomal region. (dcmproject.com)
  • These probable regions are then lined-up with one another and the overlapping region should contain the mutant gene. (wikipedia.org)
  • The differences between most disease gene identification procedures are in the second step (where DNA samples are analyzed and screened to determine regions in which the mutation could reside). (wikipedia.org)
  • Provided that all individuals are affected with the same disease resulting from a manifestation of a deletion of a single copy of the same gene, all individuals will contain one region where their control sample is heterozygous but the mutant sample is homozygous - this region will contain the disease gene. (wikipedia.org)
  • Homozygous blocks in the genomes of affected individuals can then be laid on top of each other, and the overlapping region should contain the disease gene. (wikipedia.org)
  • Several different chromosomal regions have been linked with the development of autosomal dominant FDC, but the gene defects in these disorders remain unknown. (duke.edu)
  • A more detailed functional analysis of the identified candidate gene regions must be submitted. (fu-berlin.de)
  • Van Hauwe PCoucke PJEnsink RJHuygen PCremers CWVan Camp G Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. (jamanetwork.com)
  • Cotton earliness-related QTLs and QTL coincidence regions will provide useful materials for QTL fine mapping, gene positional cloning and MAS. (biomedcentral.com)
  • In regions of the world such as Central Asia, East Africa, or Latin America where traditional physical anthropology has believed that intermixture of races has created mixed-race populations, genetics has invariably shown the hybridity of these populations. (blogspot.com)
  • Coding regions of these genes are then sequenced until a mutation is discovered or another patient is discovered, in which case the analysis can be repeated, potentially narrowing down the region of interest. (wikipedia.org)
  • We will sequence coding and regulatory regions of 20 genes in the region of linkage to identify sequence variation and will then genotype all common variants in the full sample of SAFOS participants for association and haplotype analysis. (umaryland.edu)
  • The ~1.5 Mb candidate region was shown to contain five protein-coding genes. (biomedcentral.com)
  • This haplotype analysis excludes a number of striated muscle-expressed genes present in this region, including laminin alpha2, laminin alpha4, triadin, and phospholamban. (duke.edu)
  • However, because multiple pancreatic cancer susceptibility genes are likely to exist, it is possible that a subset of the families in this study may be linked to this region. (elsevierpure.com)
  • The identified region harbors no currently known genes involved in skin or nail abnormalities. (mdc-berlin.de)
  • However, in practice, lod scores are calculated for different values of the recombination fraction bet. (shengsci.com)
  • In multivariable analyses simultaneously considering education, income, and health literacy, LHL was associated with significantly worse scores on all PROs except disease damage. (cdc.gov)
  • Conclusions: Our results do not support linkage to the 4q32-34 region in the majority of our familial pancreatic cancer kindreds. (elsevierpure.com)
  • CONCLUSIONS: We found significantly worse PRO scores among individuals with LHL, even after controlling for disease activity and damage. (cdc.gov)
  • Extensive mutation analysis of MAPT identified 38 sequence variations in exons, introns, untranslated regions and the 5' regulatory sequence, however none was comprised within the disease haplotype. (ox.ac.uk)
  • The strongest evidence of linkage (LOD = 4.29) was with rs5882 (MAF = 0.46) in CETP with HDL. (escholarship.org)
  • This practice is being adopted for sampling this species in regions of Africa ( 4 , 5 , 11 ), which is a time-consuming and labor-intensive process. (cdc.gov)
  • Hazard score (previously referred to as the PBT index) is used in Region Stockholm's knowledge support Pharmaceuticals and Environment and is the sum of the values for persistence, bioaccumulation and toxicity for a substance where each characteristic is assigned a numerical value, 0-3. (janusinfo.se)
  • The 2p and 14q loci overlap with regions indicated by large families in previous GWS studies of breast cancer. (lu.se)
  • This dataset includes 640 affected men with an average age at prostate cancer diagnosis of 66.8 years (range, 39-94), representing the largest collection of high-risk families analyzed for linkage in this region to date. (elsevierpure.com)
  • A nonsense mutation in a corresponding region of KRT5 has been found in Dowling-Degos disease and a missense mutation in the V1 domain of KRT5 has been described in patients with epidermolysis bullosa with mottled pigmentation. (medscape.com)
  • Thus, the IBD mapping results can be further supplemented by removing any regions that are identical in both affected individuals and unaffected siblings. (wikipedia.org)
  • Then, their DNA samples are analyzed and screened to determine probable regions where the mutation could potentially reside. (wikipedia.org)
  • Mean T-scores in depressed and non-depressed individuals were compared using multiple linear regression models, adjusting for age, sex, race/ethnicity, disease activity, damage, body mass index (BMI), and household income. (cdc.gov)