• In a series of papers, Serebrovsky (1930), Dubinin (1929), Agol (1930) and their colleagues have described an extremely interesting group of bristle-reducing mutant genes lying at the scute locus of the X-chromosome of Drosophila melanogaster. (caltech.edu)
  • A recent paper in this journal by Detlefsen(1) is introduced as follows: "There is a well intrenched concept of recent genetics that hereditary factors or genes may be given fairly definite loci on chromosome maps and that these maps correspond to or represent, roughly perhaps, the actual conditions in the chromosome. (caltech.edu)
  • 12) and Morgan (Science, '12) have reported the linkage relations of two non-sex-linked genes, black and vestigial. (caltech.edu)
  • Morgan considered these two genes as lying in a "second chromosome," the first chromosome being the sex chromosome. (caltech.edu)
  • We have constructed a genetic linkage map of 17 markers on the long arm of human chromosome 21, including six genes and two anonymous loci with a variable number of tandem repeats. (johnshopkins.edu)
  • the second mapped within an extensive region of linkage disequilibrium that includes the ASH1L and PKLR genes (lead SNP: rs11264371, odds ratio 1.48 [1.18-1.76], P = 1.0 x 10(-5), under a dominant model). (ox.ac.uk)
  • These findings represent a major step in mapping genes important in the regulation of allergic responses and the pathogenesis of asthma. (nih.gov)
  • Linkage disequilibrium (LD) analysis has been promoted as a method of mapping disease genes, particularly in isolated populations, but has not yet been used for genome-screening studies of complex disorders. (umn.edu)
  • The results also support previously reported possible localizations (obtained from a separate collection of patients) of BP-I-susceptibility genes at two distinct sites on this chromosome. (umn.edu)
  • High-resolution linkage mapping for susceptibility genes in human polygenic disease: insulin-dependent diabetes mellitus and chromosome 11q. (ox.ac.uk)
  • In addition to genes mapping to the major histocompatibility complex (MHC), several lines of evidence point to the existence of other genetic susceptibility factors. (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)
  • As a scientist she has been involved in mapping the human genome and identifying genes and mutations, which give rise to heritable disorders. (bepress.com)
  • Linkage and comparative mapping studies indicate that the transferred chromosome segment contains a number of candidate genes for hypertension, including genes encoding a brain dopamine receptor and a renal epithelial potassium channel. (jci.org)
  • We have been following up these findings with fine mapping of these regions and family-based association studies of functional candidate genes. (hopkinsmedicine.org)
  • He described the phenomena of linkage and crossing over , which he and his students utilized to map the linear arrangement of genes along the chromosome. (infoplease.com)
  • Any method used for determining the location of and relative distances between genes on a chromosome. (bvsalud.org)
  • Recent genome-wide searches (GWS) have not revealed any single major locus reminiscent of BRCA1 and BRCA2, indicating that still unidentified genes may explain relatively few families each or interact in a way obscure to linkage analyses. (lu.se)
  • Conclusions: Chromosomes 2p, 6q and 14q are candidate sites for genes contributing together to high breast cancer risk. (lu.se)
  • Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5. (cdc.gov)
  • Researchers are investigating genes in other regions of the X chromosome that may also be associated with FG syndrome. (medlineplus.gov)
  • Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q. (ox.ac.uk)
  • D11S4046 is in a region where linkage to alcohol dependence and linkage disequilibrium to substance dependence have previously been identified. (rti.org)
  • Linkage disequilibrium between markers was calculated and estimated haplotype frequencies were compared between groups. (lww.com)
  • Haplotype analysis, linkage disequilibrium, and homozygosity mapping indicated that HLA-DQ/DR is the major IGAD1 locus, and suggest the autoimmune pathogenesis of IgAD/CVID. (lu.se)
  • It seems probable that the scheme outlined in this paper will apply for the case of inversions that do not include the locus of the spindle attachment and for other chromosome aberrations in which crossing-over gives rise to chromatids with two spindle attachments, and where the conditions of meiosis are such that (a) the meiotic spindles are oriented so that the reduced nuclei lie approximately on a single straight line, and (b) only one of the terminal nuclei functions in further development. (caltech.edu)
  • Using the microsatellite DNA polymorphisms (STRPs) D14S53, D14S55, D14S48, and D14S45, we found significantly positive lod scores in 16 Portuguese kindreds, suggesting that the MJD locus is linked to chromosome 14q in this population. (nih.gov)
  • Chromosome 18 was chosen because a previous genome-screening linkage study of two Costa Rican families had suggested a BP-I locus on this chromosome. (umn.edu)
  • Recent studies of the nonobese diabetic mouse (NOD) model of IDDM have suggested the presence, on mouse chromosome 9, of a susceptibility gene linked to the locus encoding the T-cell antigen, Thy-1. (ox.ac.uk)
  • Linkage studies in bipolar disorder (BPD) suggest that a susceptibility locus exists on chromosome 18p11. (lww.com)
  • Additional studies are necessary to elucidate the BPD susceptibility locus on chromosome 18p. (lww.com)
  • A new high-density genetic linkage map was constructed by using specific locus amplified fragment sequencing technology. (frontiersin.org)
  • This region was later fine-mapped in the Icelandic population and confirmed in US and Danish cohorts, where the risk locus was found to be located in intron 3 of the TCF7L2 gene. (medscape.com)
  • The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)
  • We thank Drs. H. Donis-Keller and P. Green of Collaborative Research, Inc., for providing the genotypic data for five loci on chromosome 21 (Donis-Keller et al. (johnshopkins.edu)
  • Evidence for linkage of the IgE phenotype to 5q was obtained by both sib-pair and lod score analysis with evidence for recessive inheritance of high IgE levels from segregation analysis. (nih.gov)
  • 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)
  • TCF7L2 was discovered as a type 2 diabetes susceptibility gene after a strong linkage signal was mapped to chromosome 10q in a Mexican-American population. (medscape.com)
  • Forty-eight patients with BP-I were genotyped for markers spaced at ~6-cM intervals across chromosome 18. (umn.edu)
  • This result illustrates the feasibility that IDDM linkage studies using mapped sets of polymorphic DNA markers have, both for other areas of the genome in IDDM and for other polygenic diseases. (ox.ac.uk)
  • In an initial genomewide scan, we genotyped a total of 416 markers (398 autosomal, 18 X-chromosome) with an average spacing of less than 10 cM, spanning the genome. (rti.org)
  • An additional 14 markers were genotyped in a high-density panel to follow-up on an identified region of interest on chromosome 11p. (rti.org)
  • There is now evidence supporting linkage or association of chromosome 11 markers with alcohol dependence, illegal drug abuse and dependence, and cigarette smoking. (rti.org)
  • The map contains 2,808 single-nucleotide polymorphism markers distributed on 20 linkage groups with a total length of 1,308.20 cM and an average inter-marker distance of 0.47 cM. (frontiersin.org)
  • We calculated heritabilities and performed a genome-wide variance components-based linkage scan using genotype data for 1113 microsatellite markers. (bmj.com)
  • A region on human chromosome 11q is syntenic to this region on mouse chromosome 9. (ox.ac.uk)
  • Recombination frequencies using previously mapped loci allowed assignment of the 5'DI gene to mouse chromosome 4 and identified its approximate chromosomal position. (jci.org)
  • Conserved linkage between this segment of mouse chromosome 4 and human HSA1p predicts this location for human Dio1. (jci.org)
  • The parasite population shows unusual genetics consistent with a lack of meiosis: a high level of heterozygous sites shared across all isolates and no decrease in linkage with genomic distance between variants. (cdc.gov)
  • Genetic studies showed several years ago that the third chromosomes of wild strains of Drosophila pseudoobscura often carry suppressors of crossing-over. (caltech.edu)
  • Experimentally, we demonstrate the transfer of two LS chromosomes between strains of F. oxysporum , converting a non-pathogenic strain into a pathogen. (nature.com)
  • Transfer of LS chromosomes between otherwise genetically isolated strains explains the polyphyletic origin of host specificity and the emergence of new pathogenic lineages in F. oxysporum . (nature.com)
  • and producing "linkage maps," through which inherited traits and conditions are tracked over generations. (beckershospitalreview.com)
  • Construction of High-Density Genetic Map and Mapping Quantitative Trait Loci for Growth Habit-Related Traits of Peanut (Arachis hypogaea L. (frontiersin.org)
  • A total of 39 QTLs for growth habit-related traits was detected on 10 chromosomes explaining 4.55-27.74% of the phenotypic variance, in which 6 QTLs were for lateral branch angle, 8 QTLs were for extent radius, 7 QTLs were for the index of plant type, 11 QTLs were for main stem height, and 7 QTLs were for lateral branch length. (frontiersin.org)
  • A meta-analysis of original data from 11 previous linkage studies in 1067 bipolar disorder families yielded significant findings in chromosomal regions 6q for bipolar I and 8q for bipolar I/II, as well as suggestive findings at chromosomal regions 9p and 20p for bipolar I. (medscape.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)
  • Many chromosomal regions have shown linkage to bipolar disorder, but meta-analyses of microsatellite marker-based linkage studies have not provided consistent findings of susceptibility regions. (medscape.com)
  • les analyses génétiques réalisées sur six d'entre eux ont révélé une délétion de 12 bp (155-166 del) dans l'exon 3 localisé en 1q42-43 dans le gène TBCE codant la protéine chaperon E spécifique de la tubuline. (who.int)
  • It has been associated with other chromosomal abnormalities involving chromosome 18. (lu.se)
  • However, over half of the recombination events in either sex occur distally, in 21q22.3, although this region accounts for only about 15% of the physical length of chromosome 21. (johnshopkins.edu)
  • RESEARCH DESIGN AND METHODS: In all, 5,290 single nucleotide polymorphisms (SNPs) were successfully genotyped in 3,179 type 2 diabetes case and control subjects from eight populations with evidence of 1q linkage. (ox.ac.uk)
  • [ 19 ] the results of which were corroborated by a linkage study with high-density, single-nucleotide polymorphisms. (medscape.com)
  • The collaboration diagnostically evaluated and collected DNA samples from over 200 affected sibling pairs, and completed the first large genome-wide genetic linkage scan of OCD. (hopkinsmedicine.org)
  • In this report, we describe the construction and hemodynamic characterization of a congenic strain of SHR (SHR-Lx) that carries a defined segment of chromosome 8 from a normotensive strain of Brown-Norway rats (BN-Lx strain). (jci.org)
  • Transfer of this segment of chromosome 8 from the BN-Lx strain onto the SHR background resulted in substantial reductions in systolic and diastolic blood pressure and cardiac mass. (jci.org)
  • These findings demonstrate that BP regulatory gene(s) exist within the differential chromosome segment trapped in the SHR-Lx congenic strain and that this region of chromosome 8 plays a major role in the hypertension of SHR vs. BN-Lx rats. (jci.org)
  • Chromosome level ordering of the scaffolds was achieved by anchoring the assemblies either to a genetic map for Fv (ref. 7 ), or an optical map for Fol ( Supplementary Information A and Supplementary Table 2 ). (nature.com)
  • De novo assembly of the Aedes aegypti genome using Hi-C yields chromosome-length scaffolds. (nature.com)
  • The chromosome 9 region we identified as possibly linked to cigarette smoking in anxiety families, was previously identified as significantly linked to PD in Icelandic pedigrees. (rti.org)
  • We thus performed a GWS for linkage on nine Icelandic multiple-case non-BRCA1/2 families of desirable size for mapping highly penetrant loci. (lu.se)
  • The present study is concerned chiefly with the behavior of a duplicating chromosome derived from the undescribed scute allelomorph known as scute-10-2. (caltech.edu)
  • In addition, we found significant linkage of compulsive hoarding behavior to a region on chromosome 14. (hopkinsmedicine.org)
  • The small chromosome, made up of the left end of X attached to the spindle-fibre region of 4, may be obtained in individuals (of either sex) that are otherwise normal diploids. (caltech.edu)
  • OBJECTIVE: Linkage of the chromosome 1q21-25 region to type 2 diabetes has been demonstrated in multiple ethnic groups. (ox.ac.uk)
  • RESULTS: Association mapping of the 23-Mb region identified two strong signals, both of which were restricted to the subset of European-descent samples. (ox.ac.uk)
  • CONCLUSIONS: Detailed fine-mapping of the 23-Mb region of replicated linkage has failed to identify common variant signals contributing to the observed signal. (ox.ac.uk)
  • Genetic isolation of a region of chromosome 8 that exerts major effects on blood pressure and cardiac mass in the spontaneously hypertensive rat. (jci.org)
  • The pituitary adenylate cyclase-activating polypeptide/adenylate cyclase-activating polypeptide 1 (pituitary) ( PACAP/ADCYAP1 ) gene maps to this region. (lww.com)
  • Under ordinary conditions there is so little crossing over in the fourth chromosome of Drosophila melanogaster that the usual method of constructing a map is not practicable. (caltech.edu)
  • In September, 1913, a wild female Drosophila of a stock from Liverpool, Nova Scotia, was crossed to a male bearing the second chromosome mutant characters vestigial and speck. (caltech.edu)
  • We completed a genomewide linkage scan to map loci increasing risk for cigarette smoking in a set of families originally identified because they segregate panic disorder (PD). (rti.org)
  • Our analysis revealed lineage-specific (LS) genomic regions in F. oxysporum that include four entire chromosomes and account for more than one-quarter of the genome. (nature.com)
  • We performed common variant fine-mapping across a 23-Mb interval in a multiethnic sample to search for variants responsible for this linkage signal. (ox.ac.uk)
  • Samples were ascertained using strategies designed to enhance power to detect variants causal for 1q linkage. (ox.ac.uk)
  • The salivary gland chromosome technique has made it possible to demonstrate not only that these are inverted sections, but also that there are many different inversions present in wild populations inhabiting different geographical regions. (caltech.edu)
  • Haplotypes in nine affected family members mapped the loci to 2p23.2 to p21, 6q14.2 to q23.2 and 14q21.3 to q24.3. (lu.se)
  • In females (who have two X chromosomes), a mutation usually must occur in both copies of the gene to cause the disorder. (medlineplus.gov)
  • In plants, the most dramatic form of mutation is polyploidization, the duplication of the chromosome set. (lu.se)
  • Using HOMOG, no evidence was found for heterogeneity with the five Japanese families in whom linkage was reported. (nih.gov)
  • We found evidence of genetic linkage of OCD to regions on chromosomes 1, 3, 6, 7, and 15. (hopkinsmedicine.org)
  • Conclusions: We identified evidence for two loci increasing risk for cigarette smoking that map to chromosomes 9 and 11. (rti.org)
  • Chromosome-scale shotgun assembly using an in vitro method for long-range linkage. (nature.com)
  • Because the fecundity of affected cats tends to be decreased, multigenerational pedigrees with enough statistical power to find linkage are difficult to obtain. (vin.com)
  • Since the last-mentioned point involves a new type of effect of the Y-chromosome, it seems desirable to record it, even though the analysis is still unfinished. (caltech.edu)
  • Our most significant finding was for a genetic marker on chromosome 9, near the protein tyrosine phosphatase receptor type D gene (PTPRD). (hopkinsmedicine.org)
  • In the Fp subunit of SQR, and the closely related membrane-associated fumarate reductase of anaerobic organisms, FAD is covalently attached via an 8α-N(3)-histidyl linkage to a histidine (His) in a conserved sequence in the N-terminal part of the polypeptide. (lu.se)
  • The subset of 13 Nordic families showed supportive HLODs at chromosome 6q (ranging from 0.34 to 1.37 by country subset). (lu.se)
  • Before fertilization, the cytoplasm of the eggs deposited by race B females is so influenced by the chromosomes present in it, that an interaction between this cytoplasm and the autosomes of race A (introduced by the spermatozoon) results in the development of small testes in males arising from such eggs. (caltech.edu)
  • The estimated length of the map is 103 cM in males and 140 cM in females, assuming Kosambi interference. (johnshopkins.edu)
  • In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. (medlineplus.gov)
  • Because it is unlikely that females will have two altered copies of a gene on the X chromosome, males are affected by X-linked recessive disorders much more frequently than females. (medlineplus.gov)
  • Several new genomics technologies have become available that offer long-read sequencing or long-range mapping with higher throughput and higher resolution analysis than ever before. (nature.com)
  • Linkage analysis (pairwise, or single-point, and multi-point) was performed using ALLEGRO. (rti.org)
  • 2) If the normal X's of such hyperploids carry the recessive gene for yellow, the flies are wild-type in appearance because of the presence of +y in the duplicating chromosome. (caltech.edu)
  • Results: The three highest signals were located at chromosomes 6q, 2p and 14q. (lu.se)
  • This is a comprehensive Review of all major sequencing and mapping platforms, including a detailed discussion of their relative strengths and weaknesses. (nature.com)
  • If the distance which gives one per cent of crossovers is used as an arbitrary unit of measurement, then it follows that distances on the chromosome may be calculated in terms of this unit. (caltech.edu)
  • We wish to call attention to the fact that in his last paper Castle ignores our proof of the linear order that is furnished by building up the whole chromosome (or even large sections of it) by "distances" so short that no double cross-over classes appear. (caltech.edu)
  • Among these QTLs, 12 were co-localized on chromosome B05 spanning an approximately 0.17 Mb physical interval in comparison with the allotetraploid reference genome of "Tifrunner. (frontiersin.org)
  • Dotted and dashed lines on maps represent approximate border lines for which there may not yet be full agreement. (who.int)
  • Results of the current study suggest that LD methods will be useful for mapping BP-I in a larger sample. (umn.edu)