Asthma and allergy are complex multifactorial disorders, with both genetic and environmental components determining disease expression. The use of molecular genetics holds great promise for the identification of novel drug targets for the treatment of asthma and allergy. Genome-wide linkage studies have identified a number of potential disease susceptibility loci but replication remains inconsistent. The aim of the current study was to complete a meta-analysis of data from genome-wide linkage studies of asthma and related phenotypes and provide inferences about the consistency of results and to identify novel regions for future gene discovery. The rank based genome-scan meta-analysis (GSMA) method was used to combine linkage data for asthma and related traits; bronchial hyper-responsiveness (BHR), allergen positive skin prick test (SPT) and total serum Immunoglobulin E (IgE) from nine Caucasian asthma populations. Significant evidence for susceptibility loci was identified for quantitative traits
TY - JOUR. T1 - Meta-analysis of five genome-wide linkage studies for body mass index reveals significant evidence for linkage to chromosome 8p. AU - Johnson, L.. AU - Luke, A.. AU - Deng, H. W.. AU - Mitchell, B. D.. AU - Comuzzie, A. G.. AU - Cole, S. A.. AU - Blangero, J.. AU - Perola, M.. AU - Teare, M. Dawn. PY - 2005/4. Y1 - 2005/4. N2 - OBJECTIVE: To perform a meta-analysis of genome-wide linkage scans using body mass index (BMI) to identify genetic loci predisposing to obesity. DATA: A total of 13 published genome scans on obesity have used BMI as their primary end point. Five of these 13 groups agreed to provide detailed results from their scans that were required for a meta-analysis. Collectively, these five studies included a total of 2814 individuals from 505 families. METHODS: The results of the five studies were analysed using the GSMA (genome scans meta-analysis) method. RESULTS: The analysis revealed significant evidence for linkage of the quantitative phenotype BMI to 8p (P , ...
OBJECTIVE: To test a high density of microsatellite markers from within a primary osteoarthritis (OA) locus on chromosome 6 for association with OA as a means of narrowing and focusing our search for the susceptibility gene. METHODS: One hundred forty-six families, each with 2 or more women concordant for primary OA (ascertained by total hip replacement), were genotyped for 36 microsatellite markers from within a narrow interval at 6p12.3-q13 which we had previously shown to be linked to OA. Each marker was tested for linkage and for association, the latter by means of the transmission disequilibrium test and by a case-control analysis. RESULTS: The highest 2-point logarithm of odds (LOD) score was 4.8, with 11 markers having LOD scores | or =2.0. Several markers demonstrated evidence of association, in particular, a cluster of markers positioned within or near the functional candidate gene BMP5. CONCLUSION: Our linkage data reinforce the evidence of a major susceptibility locus on chromosome 6. We had
Definition of Genetic linkage in the Financial Dictionary - by Free online English dictionary and encyclopedia. What is Genetic linkage? Meaning of Genetic linkage as a finance term. What does Genetic linkage mean in finance?
Analysis of meiotic tetrads is routinely used to determine genetic linkage in various fungi. Here we apply tetrad analysis to the study of genetic linkage in a vertebrate. The half-tetrad genotypes of gynogenetic diploid zebrafish produced by early-pressure (EP) treatment were used to investigate the linkage relationships of two recessive pigment pattern mutations, leopard (leo) and rose (ros). The results showed that ros is tightly linked to its centromere and leo maps 31 cM from its centromere. Analysis of half-tetrads segregating for ros and leo in repulsion revealed no homozygous ros individuals among 32 homozygous leo half-tetrads--i.e., a parental ditype (PD) to nonparental ditype (NPD) ratio of 32:0. This result shows that ros is linked to leo, a mutation previously mapped to Linkage Group I. Investigation of PCR-based DNA polymorphisms on Linkage Group I confirmed the location of ros near the centromere of this linkage group. We propose an efficient, generally useful method to assign new ...
Looking for sex linkage? Find out information about sex linkage. That sex of some species which produces two or more different kinds of gametes that differ in their sex chromosome content Explanation of sex linkage
OBJECTIVE: The purpose of this study was to find loci for major depression via linkage analysis of a large sibling pair sample. METHOD: The authors conducted a genome-wide linkage analysis of 839 families consisting of 971 affected sibling pairs with severe recurrent major depression, comprising waves I and II of the Depression Network Study cohort. In addition to examining affected status, linkage analyses in the full data set were performed using diagnoses restricted by impairment severity, and association mapping of hits in a large case-control data set was attempted. RESULTS: The authors identified genome-wide significant linkage to chromosome 3p25-26 when the diagnoses were restricted by severity, which was a maximum LOD score of 4.0 centered at the linkage marker D3S1515. The linkage signal identified was genome-wide significant after correction for the multiple phenotypes tested, although subsequent association mapping of the region in a genome-wide association study of a U.K. depression ...
Attention deficit hyperactivity disorder (ADHD) is a childhood onset disorder, for which there is good evidence that genetic factors contribute to the aetiology. Recently reported linkage findings suggested evidence of a susceptibility locus on chromosome 16p13 (maximum LOD score of 4.2, P=5 x 10(-6 …
Rheumatoid arthritis (RA) is a complex disease that involves both environmental and genetic factors. Elucidation of the basic etiologic factors involved in RA is essential for preventing and treating this disease. However, the etiology of RA, like that of other complex diseases, is largely unknown. In the present study, we conducted autosomal multipoint linkage scans using affected sib pairs by incorporating the smoking status into analysis. We divided the affected sib pairs into three subgroups based on smoking status (ever, current, or never). Interactions between the susceptibility genes and smoking could then be assessed through linkage mapping. Results suggested that the genetic effect of chromosome 6p21.2-3 in concordant current smoker pairs was about two-fold greater than that of the concordant non-current smoker pairs or discordant pairs. With incorporation of smoking status, additional regions with evidence of linkage were identified, including chromosomes 4q and 20q; while evidence of linkage
BACKGROUND:. Meiotic linkage maps are the foundation of both linkage and linkage disequilibrium studies for mapping disease genes. Despite the importance of precise maps, existing genome-wide linkage maps were built using only a small collection of pedigrees, and so have wide confidence intervals surrounding estimates of map distance. Incorrect marker order and map distances can have a profound effect on linkage analyses. Using a sex-averaged map instead of a sex-specific map biases the lod scores upward, markedly increasing the false positive rate. Since it is very costly to follow-up many false-positive results, there is a clear need for more precise and accurate sex-specific genetic maps. Accurate estimates of meiotic map distance cannot be obtained by any means other than by linkage analysis using genotype data.. The study is in response to a Request for Applications entitled NHLBI Innovative Research Grant Program released in July, 2001. The purpose of the initiative is to support new ...
Recombination frequency (θ) is when crossing-over will take place between two loci (or genes) during meiosis. Recombination frequency is a measure of genetic linkage and is used in the creation of a genetic linkage map. A centimorgan (cM) is a unit that describes a recombination frequency of 1%.. During meiosis, chromosomes assort randomly into gametes, such that the segregation of alleles of one gene is independent of alleles of another gene. This is stated in Mendels Second Law and is known as the law of independent assortment. The law of independent assortment always holds true for genes that are located on different chromosomes, but for genes that are on the same chromosome, it does not always hold true.. As an example of independent assortment, consider the crossing of the pure-bred homozygote parental strain with genotype AABB with a different pure-bred strain with genotype aabb. A and a and B and b represent the alleles of genes A and B. Crossing these homozygous parental strains will ...
We analyzed a large group of Finnish type 2 diabetic families and found evidence for linkage to chromosome 20. Three linkage peaks were seen after analyses of diabetes and diabetes-related traits. These linkages were at approximately 0-25 cM, 50-60 cM, and 63-72 cM respectively from the marker D20S103. Although the second and third peaks could be explained by a single susceptibility locus, evidence for linkage on both arms on chromosome 20 argues for the presence of more than one susceptibility locus. As far as we know, we are the first group to show evidence for linkage to the proximal p arm of chromosome 20 in type 2 diabetes. Most of our evidence comes from families with affected sibships greater than two. Ordered subset analyses of our data revealed that a small number of families, with high or low values of important diabetes-related traits, give rise to large lod scores near the three peaks. These analyses provide additional evidence for more than one susceptibility locus on this ...
TY - JOUR. T1 - A genome scan for serum triglyceride in obese nuclear families. AU - Li, Wei Dong. AU - Dong, Chuanhui. AU - Li, Ding. AU - Garrigan, Cathleen. AU - Price, R. Arlen. PY - 2005/12/1. Y1 - 2005/12/1. N2 - Serum triglyceride (TG) levels are increased in extremely obese individuals, indicating abnormalities in lipid metabolism and insulin resistance. We carried out a genome scan for serum TG in 320 nuclear families segregating extreme obesity and normal weight. Three hundred eighty-two Marshfield microsatellite markers (Screening Set 11) were genotyped. Quantitative linkage analyses were performed using family regression and variance components methods. We found linkage on the 7q36 region [D7S3058, 174 centimorgan (cM), Logarithm of Odds (LOD) = 2.98] for log-transformed TG. We also found suggestive linkages on chromosomes 20 (D20S164, 101 cM, LOD = 2.34), 13 (111 cM, LOD = 2.00), and 9 (104 cM, LOD = 1.90) as well as some weaker trends for chromosomes 1, 3, 5, 10, 12, and 22. In 58 ...
Given the absence of linkage on chromosome 16, and even exclusion on chromosomes 3, 7, and 12 in a smaller Belgian dataset of IBD families,37 a genome wide search in a larger Belgian IBD population was performed to see if other linkages could be identified. Lander and Kruglyak have proposed a classification with thresholds of linkage for genome wide scans.44 Although none of the identified regions in our genome scan meet the Lander and Kruglyak criteria for significant (Lod ,3.6, p = 2×10−5) or suggestive linkage (Lod,2.2, p = 7×10−4), several findings are noteworthy and deserve attention. Firstly, four of the susceptibility regions found in this genome scan coincided with regions found by other investigators. Intriguing is the fact that two of these regions-namely, on chromosomes 4 and 10-overlapped with findings from the European collaborative study.17 This study consisted of 353 affected sibling pairs originating from the UK, the Netherlands, and Germany mainly. The migration waves that ...
Background It has been suggested that efforts to identify genetic risk markers of autism spectrum disorder (ASD) would benefit from the analysis of more narrowly defined ASD phenotypes. software program MCLINK, a Markov chain Monte Carlo (MCMC) method that allows for multilocus linkage analysis on large extended pedigrees. Results Genome-wide significance was observed for IS at 2q37.1-q37.3 (dominant model heterogeneity lod score (hlod) 3.42) and for RSMA at 15q13.1-q14 (recessive model hlod 3.93). We found some linkage signals that overlapped and others that were not observed in our previous linkage analysis of the ASD phenotype in the same pedigrees, and regions varied in the range of phenotypes with which they were linked. A new finding with respect to Is Apilimod supplier usually was that it is positively associated with IQ if the IS-RSMA correlation is usually statistically controlled. Conclusions The finding that Is usually and Apilimod supplier RSMA are linked to different regions that ...
TY - JOUR. T1 - DSLINK. T2 - A computer program for gene-centromere linkage analysis in families with a trisomic offspring. AU - Halloran, S. L.. AU - Chakravarti, A.. PY - 1987. Y1 - 1987. N2 - Trisomic individuals provide information for gene-centromere mapping, since two of the four chromatids in a meiotic tetrad can be recovered. When centromeric markers are available, linkage analysis between the centromere and any marker locus can be performed in nuclear families having one or more trisomic offspring. Since conventional linkage programs consider only disomic individuals, we have written a FORTRAN computer program, DSLINK, that performs gene-centromere linkage analysis on the basis of information on trisomic and disomic offspring. This program makes it possible to study the relationship between recombination and chromosome segregation.. AB - Trisomic individuals provide information for gene-centromere mapping, since two of the four chromatids in a meiotic tetrad can be recovered. When ...
TY - JOUR. T1 - Exploring Positional Candidate Genes. T2 - Linkage Conditional on Measured Genotype. AU - Almasy, L.. AU - Blangero, J.. N1 - Funding Information: This work was supported in part by NIH Grants MH59490, AA08403, HL70751, HL45522, and GM31575.. PY - 2004/3. Y1 - 2004/3. N2 - Variance component methods for linkage analysis of quantitative traits are now well established and have been applied with great success. Numerous QTLs influencing both normal variation between individuals and biomedically relevant quantitative risk factors have been localized in recent years. These findings have motivated recent methodological developments focused on the next step in the analytical process, moving beyond QTL localization by linkage to identifying specific genes and the functional polymorphisms in them that influence the phenotype of interest. In this paper, we describe one approach to exploring positional candidate genes in a region of linkage, linkage analysis conditional on measured ...
TY - JOUR. T1 - Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG. AU - Lu, Lingyi. AU - Cancel-Tassin, Geraldine. AU - Valeri, Antoine. AU - Cussenot, Olivier. AU - Lange, Ethan M.. AU - Cooney, Kathleen A.. AU - Farnham, James M.. AU - Camp, Nicola J.. AU - Cannon-Albright, Lisa A.. AU - Tammela, Teuvo L.J.. AU - Schleutker, Johanna. AU - Hoegel, Josef. AU - Herkommer, Kathleen. AU - Maier, Christiane. AU - Vogel, Walther. AU - Wiklund, Fredrik. AU - Emanuelsson, Monica. AU - Grönberg, Henrik. AU - Wiley, Kathleen E.. AU - Isaacs, Sarah D.. AU - Walsh, Patrick C.. AU - Helfand, Brian T.. AU - Kan, Donghui. AU - Catalona, William J.. AU - Stanford, Janet L.. AU - Fitzgerald, Liesel M.. AU - Johanneson, Bo. AU - Deutsch, Kerry. AU - McIntosh, Laura. AU - Ostrander, Elaine A.. AU - Thibodeau, Stephen N.. AU - McDonnell, Shannon K.. AU - Hebbring, Scott. AU - Schaid, Daniel J.. AU - Whittemore, Alice S.. AU - Oakley-Girvan, ...
Genome scan analyses and fine mapping investigations in the UCLA sample support significant linkage in three regions: 6q12 (MLS 3.30), 16p13 (MLS 3.73), and 17p11 (MLS 3.63), while the Utrecht two-stage genome scan supports significant linkage in two regions: 7p13 (MLS 3.04) and 15q15 (MLS 3.54). Both studies had lower linkage signals (1,MLS,3) at multiple locations, but only one region of overlap at 5p13 (UCLA MLS=2.55;6 Utrecht Broad Affection Criteria MLS=1.43 and Narrow Criteria MLS=0.478). In an attempt to better interpret the lack of replication across these two data sets, we pooled genotypic data and re-analyzed the pooled sample in two ways. First, we estimate linkage evidence across the whole genome using the pooled sample and empiric P-values generated by simulations (i.e. generating empiric P-values based on 1000 replicates per chromosome using the exact marker information from the individual scans; for methods, see Ogdie et al.4). For that analysis, we combined the data into a single ...
covers knowledge about gene linkage and linkage groups, crossing over with its role in variation and evolution and frequency of variation.. By: sci4you ...
Human breast cancer is usually caused by genetic alterations of somatic cells of the breast, but occasionally, susceptibility to the disease is inherited. Mapping the genes responsible for inherited breast cancer may also allow the identification of early lesions that are critical for the development of breast cancer in the general population. Chromosome 17q21 appears to be the locale of a gene for inherited susceptibility to breast cancer in families with early-onset disease. Genetic analysis yields a lod score (logarithm of the likelihood ratio for linkage) of 5.98 for linkage of breast cancer susceptibility to D17S74 in early-onset families and negative lod scores in families with late-onset disease. Likelihood ratios in favor of linkage heterogeneity among families ranged between 2000:1 and greater than 10(6):1 on the basis of multipoint analysis of four loci in the region. ...
Background: Localization of complex traits by genetic linkage analysis may involve exploration of a vast multidimensional parameter space. The posterior probability of linkage (PPL), a class of statistics for complex trait genetic mapping in humans, is designed to model the trait model complexity represented by the multidimensional parameter space in a mathematically rigorous fashion. However, the method requires the evaluation of integrals with no functional form, making it difficult to compute, and thus further test, develop and apply. This paper describes MLIP, a multiprocessor two-point genetic linkage analysis system that supports statistical calculations, such as the PPL, based on the full parameter space implicit in the linkage likelihood. Results: The fundamental question we address here is whether the use of additional processors effectively reduces total computation time for a PPL calculation. We use a variety of data - both simulated and real - to explore the question how close can ...
Interspecific mouse backcrosses provide almost limitless genetic variation for gene mapping. We have used interspecific backcrosses to develop the first comprehensive molecular genetic linkage map of the mouse genome. More than 600 loci have been positioned on the map; the current average map resolu …
We performed haplotype analysis in pedigree F233 by using 10 polymorphic microsatellite DNA markers spanning 22 Mb along the RCA cluster at the 1q32 locus (6) (see SI Text and SI Fig. 4).. Seventeen subjects were haplotyped. Segregation of GFND in this family was consistent with autosomal dominant inheritance and age-related penetrance. Because the disease has progressive manifestations, the absence of the disease could not be determined with certainty in the four healthy subjects of the third generation (all ,35 years of age). Data were first evaluated on the basis of affecteds-only strategy. None of the haplotypes cosegregated with GFND and linkage analysis by GENEHUNTER software gave a multipoint logarithm of odds (lod) score less than −2 throughout the chromosomal area. In further analyses, liability classes were assigned according to age at examination, as described in Methods. Results of two-point and multipoint linkage analyses confirmed the exclusion of 1q32 as disease locus in this ...
Our study in healthy Mexican Americans individuals aimed to replicate a finding of shared genetic loci between HWM and quantitative BP traits, previously reported by Turner et al4 in a study of hypertensive sibships. We performed these analyses in a cohort of well-characterized population of Mexican Americans. Additional, post hoc analyses were performed in a cohort that excluded subjects taking antihypertensive medications. The genetic linkage analyses in both cohorts identified the same regions of significant and suggestive linkage and these loci overlapped with several loci reported by Turner and colleagues and with several loci previously identified by the univariate linkage analyses of BP, triglyceride levels, and atherosclerosis traits performed by this and other groups. The highest linkage value (LOD=3.82/3.62 full versus normotensive cohorts) was observed for the bivariate linkage analysis of WB HWM volume and PP. This locus (chromosome 1q24) was also significant in the bivariate ...
engines was called the parallel motion linkage, a development of Watts linkage, but using the same principle. Linkages found in a sewing machine. This paper describes the procedure of optimal synthesis of a four-bar linkage, with the application of genetic algorithm and combination of cognates of the optimal mechanism to achieve a Watts six-bar linkage. The linkage is connected to a support structure which guides its movement. Optimization of Watts Six-bar Linkage to Generate Straight and Parallel Leg Motion.pdf Journal of Humanoids, Vol. The photograph above shows various linkages and levers in a typical sewing machine. One of the problems was the construction of a linkage that converts a rotary motion into an This linkage is comprised of three straight links, connected by two axle joints. 1, (2008) ISSN 1006-7290, pp. The This linkage is commonly used in suspension systems, as shown below. Technically classed as a four-bar linkage, it can be rotated through 360° without changing its ...
The data provided to Genetic Analysis Workshop 15 (GAW15) were of several sorts. The basic collection was of data from large families, specifically 14 three-generation Centre dEtude du Polymorphisme Humain (CEPH) Utah families (approximately 8 offspring per sibship and 14 individuals per family). The CEPH Utah families are the most uniform of the three-generation CEPH families (parents and grandparents are available) and cells are available for all four grandparents. The data provided were from 14 of these. In addition, gene expression data were provided from 30 HapMap trios: these are grandparent-parent trios that are partly included among those in the 14 families, plus approximately 12 additional grandparent-parent trios of CEPH Utah individuals. The 30 trios are also part of the International HapMap Project. The data included pedigree files with information on the structure of each family.. ...
Over 30 genomic regions show linkage to asthma traits. Six asthma genes have been cloned, but the putative loci in many linked regions have not been identified. To search for asthma susceptibility loci, we performed genomewide univariate linkage analyses of seven asthma traits, using 202 Australian families ascertained through a twin proband. House-dust mite sensitivity (Dpter) exceeded the empirical threshold for significant linkage at 102 cM on chromosome 20q13, near marker D20S173 (empirical pointwise P = .00001 and genomewide P = .005, both uncorrected for multiple-trait testing). Atopy, bronchial hyperresponsiveness (BHR), and forced expiratory volume in 1 s (FEV1) were also linked to this region. In addition, 16 regions were linked to at least one trait at the suggestive level, including 12q24, which has consistently shown linkage to asthma traits in other studies. Some regions were expected to be false-positives arising from multiple-trait testing. To address this, we developed a new ...
A genome-wide linkage study in a large kindred of individuals with PE detected strong evidence for linkage with polymorphic markers on chromosome 2q (35). Haplotype analysis in four additional families confirmed the locus, and recombinant events defined the critical interval to 7.94 cM. Subsequent analysis of another family allowed narrowing of the region to 5.98 cM (3). This interval contains five genes encoding sodium-channel α subunits. After confirming the presence of this genetic interval in two affected families, two candidate genes, including SCN9A, were tested (3). A missense mutation (L858H) in SCN9A was identified that segregated with the disease in a three-generation Chinese family while an I848T mutation was present in a single sporadic case. Both mutations affected conserved residues in the pore-forming α subunit of the Nav1.7 channel, and multiple alignment indicated that the affected amino acids are conserved in sodium channels. Subsequent independent studies confirmed these ...
BIONET.MOLBIO.GENE-LINKAGE FREQUENTLY ASKED QUESTIONS (FAQ) AS OF 1997/10/27 1.0) FAQ ADMINISTRATIVE INFORMATION [1995/05/18] 1.1) Where can I obtain and/or access the bionet.molbio.gene-linkage FAQ? [1995/03/01] 1.2) Who created the bionet.molbio.gene-linkage FAQ? [1995/03/01] 1.3) How can I help improve this FAQ? [1995/03/01] 1.4) Contributors to this FAQ. [1995/09/09] 1.5) When was the FAQ last updated? [1996/04/28] 2.0) INFORMATION RESOURCES 2.1) What anonymous FTP sites have programs/utilities useful for linkage analysis? [1995/03/01] 2.2) What books are helpful when learning about linkage analysis? [1995/03/01] 2.3) What WWW sites have useful linkage information? [1996/01/02] 2.4) What gopher sites have useful linkage information? [1995/03/01] 2.5) What linkage centers make information and assistance available to researchers? [1995/12/11] 2.6) What journals are useful for linkage analysis? [1995/06/02] 2.7) What courses are offered in linkage analysis? [1995/09/09] 3.0) GENE-LINKAGE ...
BIONET.MOLBIO.GENE-LINKAGE FREQUENTLY ASKED QUESTIONS (FAQ) AS OF 1995/12/11 1.0) FAQ ADMINISTRATIVE INFORMATION [1995/05/18] 1.1) Where can I obtain and/or access the bionet.molbio.gene-linkage FAQ? [1995/03/01] 1.2) Who created the bionet.molbio.gene-linkage FAQ? [1995/03/01] 1.3) How can I help improve this FAQ? [1995/03/01] 1.4) Contributors to this FAQ. [1995/09/09] 1.5) When was the FAQ last updated? [1995/09/14] 2.0) INFORMATION RESOURCES 2.1) What anonymous FTP sites have programs/utilities useful for linkage analysis? [1995/03/01] 2.2) What books are helpful when learning about linkage analysis? [1995/03/01] 2.3) What WWW sites have useful linkage information? [1996/01/02] 2.4) What gopher sites have useful linkage information? [1995/03/01] 2.5) What linkage centers make information and assistance available to researchers? [1995/12/11] 2.6) What journals are useful for linkage analysis? [1995/06/02] 2.7) What courses are offered in linkage analysis? [1995/09/09] 3.0) GENE-LINKAGE ...
Sex linkage explained Thomas Hunt Morgan in The Fly Room! (Columbia University 1910) Fruit Flies (Drosophila melanogaster) © 2007 Paul Billiet ODWSODWS
The potential contribution of maturity-onset diabetes of the young (MODY) genes to NIDDM susceptibility in African-American and Caucasian NIDDM-affected sibling pairs with a history of adult-onset diabetic nephropathy has been evaluated. Evidence for linkage to NIDDM was found with polymorphic loci that map to the long arms of human chromosomes 20 and 12 in regions containing the MODY1 and MODY3 genes. Nonparametric analysis of chromosome 20 inheritance data collected with the MODYl-linked marker D20S197 provides evidence forlinkage to NIDDM with a P value of 0.005 in Caucasian sib pairs using affected sibpair (ASP) analyses. Nonparametric analysis of chromosome 12 inheritance data collected with the MODY3-linked markers D12S349 and D12S86 provides evidence for linkage to NIDDM with P values of 0.04 and 0.006, respectively, in Caucasian sib pairs using similar analyses. No evidence for linkage of MODY1 and MODY3 markers to NIDDM in African-American sib pairs was observed. In addition, no ...
A linkage map is a chromosome map of a species that demonstrates the position of its known genes or markers with respect to each other, as opposed to as particular physical focuses on each chromosome.A Linkage map is unique in relation to quality map. Thomas Hunt Morgan watched that the measure of traverse between connected genes is distinctive. It gives hybrid recurrence shows the separation isolating genes on the chromosome. Morgans understudy Alfred Sturtevant built up the primary hereditary -map, additionally called a linkage map.. Sturtevant suggested that the more prominent the separation between connected genes, the more noteworthy the possibility of traverse between non-sister chromatids. On the off chance that number of recombinant is measured, at that point the separation between the genes can be measured. This separation is known as a hereditary map unit (m.u.), or a centimorgan. It is characterized as the separation between genes for which one result of meiosis in 100 is ...
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When you have allele frequency data of a particular gene and know which genes are in the same linkage group and want to know if they are under the same or similar environmental selections, would you say that the gene of interest is in LD with gene C and they may be under the same selection even if they are 140cM away (*allele frequency of gene C is not known)? If its too far away from each other to come to a valid evolutionary inference, what is a maximum map distance (cM) where you would confidently say the genes are under the same selection? If there is any paper on this topic, please let me know ...
When you have allele frequency data of a particular gene and know which genes are in the same linkage group and want to know if they are under the same or similar environmental selections, would you say that the gene of interest is in LD with gene C and they may be under the same selection even if they are 140cM away (*allele frequency of gene C is not known)? If its too far away from each other to come to a valid evolutionary inference, what is a maximum map distance (cM) where you would confidently say the genes are under the same selection? If there is any paper on this topic, please let me know ...
When DArcy Wentworth Thompsons On Growth and Form was published 100 years ago, it raised the question of how biological forms arise during development and across evolution. In light of the advances in molecular and cellular biology since then, a succinct modern view of the question states: how do genes encode geometry? Our new special issue is packed with articles that use mathematical and physical approaches to gain insights into cell and tissue patterning, morphogenesis and dynamics, and that provide a physical framework to capture these processes operating across scales.. Read the Editorial by guest editors Thomas Lecuit and L. Mahadevan, as they provide a perspective on the influence of DArcy Thompsons work and an overview of the articles in this issue.. ...
Introduction and Goals Previously we examined the relationship between gene segregation and meiosis. As you should now know, Mendel was able to infer independent assortment between different genes because they were located on different chromosomes (each o
F. H. C. Crick suggests that during protein formation the amino acid is carried to the template by an adaptor molecule containing nucleotides and that the adaptor is the part that actually fits on the RNA template. Crick thus predicts the discovery of transfer RNA. F. Jacob and E. L. Wollman demonstrate that the single linkage group of E. coli is circular and suggest that the different linkage groups found in different Hfr strains result from the insertion at different points of a factor in the circular linkage group that determines the rupture of the circle. M. Meselson and F. W. Stahl use the density gradient equilibrium centrifugation technique to demonstrate the semiconservative distribution of density label during DNA replication in E. coli. ...
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To start a mating, you will place 4 to 5 young adult (or L4) males on a plate with 4 young adult (or L4) hermaphrodites. We will use plates seeded with a very small drop of OP50 bacteria for our crosses. These seeded plates have been prepared for you by our hard working lab specialists. If you were working as an investigator in a worm lab, you would be doing this preparatory work yourself, including growing the bacteria to be used as worm food, pouring the agar into sterile plates, and seeding those plates with the bacteria. Yes, you should appreciate that this has been done for you! When setting up a mating, it is important to use only a small central area of the plate. Doing so helps our worms find each other quickly and helps insure a successful mating of the parental generation. In the F1 progeny, any self-cross progeny produced by the parental hermaphrodite must be distinguished from outcross progeny. Generally, the hermaphrodite is homozygous for a visible marker and the progeny from ...
Modern gene‐mapping can include linkage studies, which correlate the presence of disease to broad genomic regions in either small or large family units, and association studies, which can narrow the location of a disease‐predisposing trait to a single gene using either case‐control or family data
Agro-Ecosystem-wise Status of Technological Interventions Implemented under Institution-Village Linkage Programme (IVLP) in India (2003-2004 ...
Incomplete Dominance Heterozygous phenotype is a blend of the 2 homozygous phenotypes Ex. Red flower crossed with white flower  heterozygous flower is pink
In this study, conducted on a random sample of individuals from the isolated population of Campora, we detected a genome-wide significant linkage between BMI and a new locus on chr1q24. Interestingly, this linkage is also detected when focusing on obesity, and it is replicated for both BMI and obesity in the neighboring village of Gioi. However, in these three latter analyses, the linkage is located 7.7 cM away from the initial signal, at a position where no linkage is observed on the first BMI analysis. Whether this suggests the implication of two different loci remains an open question. Following Göring et al. (32), who demonstrated that the chromosomal position and genotype-phenotype relationship of a locus cannot both be estimated reliably by use of a single data set of current realistic size in linkage analysis, our results may well be generated by a single locus. We believe that having significant replication P values and detecting a linkage with obesity in Campora at the same marker as ...
Linkage analysis has been very successful in identifying genes for many Mendelian diseases, but has not enjoyed the same level of success for complex diseases
Annual Review of Genomics and Human Genetics September 2002, Vol. 3, pp. 371-413 (doi:10.1146/annurev.genom.3.022502.103141) First published online as a Review in Advance on June 4, 2002 LINKAGE ANALYSIS IN PSYCHIATRIC DISORDERS: The Emerging Picture Pamela Sklar
Red clover (Trifolium pratense L.) is a major forage legume that has a strong self-incompatibility system and exhibits high genetic diversity within populations. For several crop species, integrated consensus linkage maps that combine information from multiple mapping populations have been developed. For red clover, three genetic linkage maps have been published, but the information in these existing maps has not been integrated. A consensus linkage map was constructed using six mapping populations originating from eight parental accessions. Three of the six mapping populations were established for this study. The integrated red clover map was composed of 1804 loci, including 1414 microsatellite loci, 181 amplified fragment length polymorphism (AFLP) loci and 204 restriction fragment length polymorphism (RFLP) loci, in seven linkage groups. The average distance between loci and the total length of the consensus map were 0.46 cM and 836.6 cM, respectively. The locus order on the consensus map correlated
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TY - JOUR. T1 - Linkage Analysis of Affective Disorder Using DNA Markers on Chromosomes 11 and X. AU - Nanko, Shinichiro. AU - Kobayashi, Masaru. AU - Gamou, Shinobu. AU - Kudoh, Jun. AU - Shimizu, Nobuyoshi. AU - Takazawa, Noboru. AU - Kazamatsuri, Hajime. AU - Furusho, Toshiyuki. PY - 1991/3. Y1 - 1991/3. N2 - Abstract: We have investigated two pedigrees in an attempt to detect the putative linkages between affective disorder and c‐Ha‐ras‐1 oncogene and the insulin gene on chromosome 11, or hypoxanthhte phosphoribosyltransferase (HPRT) on X chromosome. The linkage between affective disorders and the markers on chromosomes 11 and X was ruled out with the assumption of no recombination.. AB - Abstract: We have investigated two pedigrees in an attempt to detect the putative linkages between affective disorder and c‐Ha‐ras‐1 oncogene and the insulin gene on chromosome 11, or hypoxanthhte phosphoribosyltransferase (HPRT) on X chromosome. The linkage between affective disorders and the ...
Extended pedigrees are not only very useful to identify disease genes for rare Mendelian conditions, but they may also help unravel the genetics of complex diseases such as schizophrenia. In this study we performed genome-wide multipoint non-parametric linkage (NPL) score calculations using 825 microsatellites and 5,366 single nucleotide polymorphisms (SNPs), respectively, and searched for haplotypes shared by affected individuals, in three multiplex families including 29 genotyped affected individuals which in total contains 49 relative pairs useful for linkage studies. The most consistent results for microsatellites and SNPs were observed on 2q12.3-q14.1 (NPL scores 2.0, empirical P-value 0.009). However, the overall highest NPL score was observed on chromosome 2q33.3 using SNPs (NPL score 2.2, empirical P-value 0.007). Other chromosomal regions were detected on 5q15-q22.1, with microsatellites (NPL scores 1.7, empirical P-value 0.021) and with SNPs (NPL scores 2.0, empirical P-value 0.010) ...
In population genetics, linkage disequilibrium is the non-random association of alleles at different loci in a given population. Loci are said to be in linkage disequilibrium when the frequency of association of their different alleles is higher or lower than what would be expected if the loci were independent and associated randomly.[1]. Linkage disequilibrium is influenced by many factors, including selection, the rate of recombination, the rate of mutation, genetic drift, the system of mating, population structure, and genetic linkage. As a result, the pattern of linkage disequilibrium in a genome is a powerful signal of the population genetic processes that are structuring it.. In spite of its name, linkage disequilibrium may exist between alleles at different loci without any genetic linkage between them and independently of whether or not allele frequencies are in equilibrium (not changing with time).[1] Furthermore, linkage disequilibrium is sometimes referred to as gametic phase ...
Objective: To map loci influencing normal adult height in 335 families from the Framingham Heart Study. Methods: We analyzed data consisting of 1,702 genotyped individuals who have been followed over time. The first height measurement for individuals between the ages 20-55 years was analyzed in a genome-wide scan using variance component linkage analysis. Sex, age, and cohort effects were removed before analysis. Results: Two regions (18pter-p11, 22q11.2) with multipoint LOD scores >1.0 (-log p values >2.0) were detected: we obtained LOD scores of 1.38 at D18S1364, and of 1.10 at D22S345. Analysis of height as a sex-limited phenotype revealed a peak in the 9p21 region near D9S319 with a maximum LOD score of 1.65 (-log p value >3.0) when only male height phenotypes were used. When only female phenotypes were used, a peak with a maximum LOD score of 1.85 (-log p value of 2.70) was observed in the 11q25-qter region near D11S2359. Conclusions: Our region of interest on chromosome 9 has been ...
TY - JOUR. T1 - Evidence for asthma susceptibility genes on chromosome 11 in an African-American population. AU - Huang, Shau Ku. AU - Mathias, Rasika A.. AU - Ehrlich, Eva. AU - Plunkett, Beverly. AU - Liu, Xin. AU - Cutting, Garry R.. AU - Wang, Xin Jing. AU - Li, Xiao Dong. AU - Togias, Alkis. AU - Barnes, Kathleen C.. AU - Malveaux, Floyd. AU - Rich, Stephen. AU - Mellen, Beverly. AU - Lange, Ethan. AU - Beaty, Terri H.. PY - 2003/7/1. Y1 - 2003/7/1. N2 - Initial genome-wide scan data provided suggestive evidence for linkage of the asthma phenotype in African-American (AA), but not Caucasian, families to chromosome 11q markers (peak at D11S1985; LOD=2). To refine this region, mapping analysis of 91 AA families (51 multiplex families and 40 asthmatic case-parent trios) was performed with an additional 17 markers flanking the initial peak linkage marker. Multipoint analyses of the 51 multiplex families yielded significant evidence of linkage with a peak non-parametric linkage score of 4.38 at ...
It is well established that gene interactions influence common human diseases, but to date linkage studies have been constrained to searching for single genes across the genome. We applied a novel approach to uncover significant gene-gene interactions in a systematic two-dimensional (2D) genome-scan of essential hypertension. The study cohort comprised 2076 affected sib-pairs and 66 affected half-sib-pairs of the British Genetics of HyperTension study. Extensive simulations were used to establish significance thresholds in the context of 2D genome-scans. Our analyses found significant and suggestive evidence for loci on chromosomes 5, 9, 11, 15, 16 and 19, which influence hypertension when gene-gene interactions are taken into account (5q13.1 and 11q22.1, two-locus lod score=5.72; 5q13.1 and 19q12, two-locus lod score=5.35; 9q22.3 and 15q12, two-locus lod score=4.80; 16p12.3 and 16q23.1, two-locus lod score=4.50). For each significant and suggestive pairwise interaction, the two-locus genetic ...
Bipolar affective disorder is one of the most common mental illnesses with a population prevalence of approximately 1%. The disorder is genetically complex, with an increasing number of loci being implicated through genetic linkage studies. However, the specific genetic variations and molecules involved in bipolar susceptibility and pathogenesis are yet to be identified. Genetic linkage analysis has identified a bipolar disorder susceptibility locus on chromosome 4q35, and the interval harbouring this susceptibility gene has been narrowed to a size that is amenable to positional cloning. We have used the resources of the Human Genome Project (HGP) and Celera Genomics to identify overlapping sequenced BAC clones and sequence contigs that represent the region implicated by linkage analysis. A combination of bioinformatic tools and laboratory techniques have been applied to annotate this DNA sequence data and establish a comprehensive transcript map that spans approximately 5.5 Mb. This map encompasses the
Eight families have been identified with cleft lip, with or without cleft palate (CL/P), inherited in an apparently autosomal dominant manner. Transforming growth factor-alpha (TGFA) has been tested as a candidate gene for clefting in these families. Negative lod scores were generated in an autosomal dominant model with 80% penetrance (Z = -3.152 at theta = 0.05 and Z = -2.49 at theta = 0.05 with only affected subjects scored). After testing with a reduced penetrance of 28%, less negative lod scores were generated (Z = -0.157 at theta = 0.00), but there was still no evidence of linkage. An autosomal recessive model with a penetrance of 35% was also tested. Regardless of the model used there was little evidence of linkage between TGFA and the CL/P phenotype, which is in contrast to the previously published findings of an association between TGFA and CL/P in unrelated subjects. ...
Recombination frequency is a measure of genetic linkage and is used in the creation of a genetic linkage map. Recombination frequency (θ) is the frequency with which a single chromosomal crossover will take place between two genes during meiosis. A centimorgan (cM) is a unit that describes a recombination frequency of 1%. In this way we can measure the genetic distance between two loci, based upon their recombination frequency. This is a good estimate of the real distance. Double crossovers would turn into no recombination. In this case we cannot tell if crossovers took place. If the loci were analysing are very close (less than 7 cM) a double crossover is very unlikely. When distances become higher, the likelihood of a double crossover increases. As the likelihood of a double crossover increases we systematically underestimate the genetic distance between two loci. During meiosis, chromosomes assort randomly into gametes, such that the segregation of alleles of one gene is independent of ...
We conducted a genome-wide scan using variance components linkage analysis to localize quantitative-trait loci (QTLs) influencing triglyceride (TG), high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol, and total cholesterol (TC) levels in 3,071 subjects from 459 families with atherogenic dyslipidemia. The most significant evidence for linkage to TG levels was found in a subset of Turkish families at 11q22 [logarithm of the odds ratio (LOD) = 3.34] and at 17q12 (LOD = 3.44). We performed sequential oligogenic linkage analysis to examine whether multiple QTLs jointly influence TG levels in the Turkish families. These analyses revealed loci at 20q13 that showed strong epistatic effects with 11q22 (conditional LOD = 3.15) and at 7q36 that showed strong epistatic effects with 17q12 (conditional LOD = 3.21). We also found linkage on the 8p21 region for TG in the entire group of families (LOD = 3.08). For HDL-C levels, evidence of linkage was identified on chromosome 15 in ...
The first and still the only book of its kind, this volume offers a concise introduction to human genetic linkage analysis and gene mapping. Jurg Ott provides mathematical and statistical foundations of linkage analysis for researchers and practitioners, as well as practical comments on available computer programs and websites. Each chapter ends with a set of problems, whose solutions are found at the end of the book.New to this edition is a chapter on complex traits, such as diabetes, some cancers, and psychiatric conditions. Also new is an overview of nonparametric approaches to linkage and association analysis. A chapter on two-locus inheritance introduces the reader to many of the intricate aspects of complex traits. Although the books primary audience is in the field of genetics, physicians and others without sophisticated training in genetics can understand and apply the principles and techniques discussed.
Abstract: A previous linkage study provided evidence for a prostate cancer-susceptibility locus at 1q24-25. Subsequent reports in additional collections of families have yielded conflicting results. In addition, evidence for locus heterogeneity has been provided by the identification of other putative hereditary prostate cancer loci on Xq27-28, 1q42-43, and 1p36. The present study describes a combined analysis for six markers in the 1q24-25 region in 772 families affected by hereditary prostate cancer and ascertained by the members of the International Consortium for Prostate Cancer Genetics (ICPCG) from North America, Australia, Finland, Norway, Sweden, and the United Kingdom. Overall, there was some evidence for linkage, with a peak parametric multipoint LOD score assuming heterogeneity (HLOD) of 1.40 (P=.01) at D1S212. The estimated proportion of families (alpha) linked to the locus was.06 (1-LOD support interval.01-.12). This evidence was not observed by a nonparametric approach, presumably ...
In this study, we developed a high-density genetic linkage map, SKF2, of a total length of 2,166.4 cM consisting of 1,114 marker loci (Figure 1, Table 2, Additional file 6). Genetic linkage maps in Arachis spp. have been constructed using mapping populations derived from crosses between interspecific diploids [14, 19, 22, 23] or synthetic tetraploids [13, 27], as well as cultivated tetraploids [21, 24-26]. In addition, the integration of more than two maps by connecting common markers as anchors has been conducted to produce a higher number of marker loci than that on single maps [28-31]. While it is true that map integration is an effective way to increase marker loci on a single map, the development of new markers is still required to saturate linkage maps in peanut. As far as we know, the SKF2 map covering 2,166.4 cM with 1,114 loci is the highest-density genetic linkage map in Arachis, and probably covers a large portion of the peanut genome because the total length of the map is almost ...
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TY - JOUR. T1 - A genome-wide linkage scan for age at menarche in three populations of European descent. AU - Anderson, Carl A.. AU - Zhu, Gu. AU - Falchi, Mario. AU - van den Berg, Stephanie M.. AU - Treloar, Susan A.. AU - Spector, Timothy D.. AU - Martin, Nicholas G.. AU - Boomsma, Dorret I.. AU - Visscher, Peter M.. AU - Montgomery, Grant W.. PY - 2008/10. Y1 - 2008/10. N2 - Context: Age at menarche (AAM) is an important trait both biologically and socially, a clearly defined event in female pubertal development, and has been associated with many clinically significant phenotypes.Objective: The objective of the study was to identify genetic loci influencing variation in AAM in large population-based samples from three countries.Design/Participants: Recalled AAM data were collected from 13,697 individuals and 4,899 pseudo-independent sister-pairs from three different populations (Australia, The Netherlands, and the United Kingdom) by mailed questionnaire or interview. Genome-wide variance ...
In the recent past, genetic analyses of grapevine focused mainly on the identification of resistance loci for major diseases such as powdery and downy mildew. Currently, breeding programs make intensive use of these results by applying molecular markers linked to the resistance traits. However, modern genetics also allows to address additional agronomic traits that have considerable impact on the selection of grapevine cultivars. In this study, we have used linkage mapping for the identification and characterization of flowering time and ripening traits in a mapping population from a cross of V3125 (Schiava Grossa × Riesling) and the interspecific rootstock cultivar Börner (Vitis riparia × Vitis cinerea). Comparison of the flowering time QTL mapping with data derived from a second independent segregating population identified several common QTLs. Especially a large region on linkage group 1 proved to be of special interest given the genetic divergence of the parents of the two ...
Fingerprint Dive into the research topics of A genomewide linkage study of 1,933 families affected by premature coronary artery disease: The British Heart Foundation (BHF) Family Heart Study. Together they form a unique fingerprint. ...
Table 2. LOD scores for linkage between cataract with microcornea and 22q11.2-q12.2 markers. Two-point LOD scores for linkage in microsatellite markers across the β-crystallin gene cluster in the chromosomal regions 22q11.2-q12.2. The maximum two-point lod score was achieved for D22S1114 at θ=0. Zmax, the maximum lod score achieved, is given for each marker. Significant linkage was found with microsatellite marker D22S1144 with pair-wise lod score exceeding 3.0.. ...
Methods and results A 26-family linkage study followed by fine mapping was performed in a cohort of 1284 KD subjects and their family members (total 3248 individuals). Suggestive evidence of disease linkage (logarithm of odds (LOD) ≥3.0, p,1.00×10−4) was found for five genomic locations (Chr 3q, 4q, 10p, 13q, 21q). Two of these loci (Chr 4q and Chr 13q) overlapped with validated findings from a recent KD genome-wide association study. Fine mapping analysis revealed three single nucleotide polymorphisms (SNPs) in ATP-binding cassette, subfamily C, member 4 (ABCC4) underlying the Chr 13q linkage peak showing evidence of association to KD (lowest p=8.82×10−5; combined OR 2.00, 95% CI 1.41 to 2.83). ABCC4 is a multifunctional cyclic nucleotide transporter that stimulates the migratory capacity of dendritic cells. It is also a mediator of prostaglandin efflux from human cells and is inhibited by non-steroidal anti-inflammatory medications such as aspirin. ...
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TY - JOUR. T1 - Linkage of a gene causing high bone mass to human chromosome 11 (11q12- 13). AU - Johnson, Mark L.. AU - Gong, Guodong. AU - Kimberling, William. AU - Recker, Susan M.. AU - Kimmel, Donald B.. AU - Recker, Robert R.. PY - 1997/6. Y1 - 1997/6. N2 - The purpose of this paper is to report the linkage of a genetic locus (designated HBM) in the human genome to a phenotype of very high spinal bone density, using a single extended pedigree. We measured spinal bone mineral density, spinal Z(BMD), and collected blood from 22 members of this kindred. DNA was genotyped on an Applied Biosystems model 377 (ABI PRISM Linkage Mapping Sets; Perkin Elmer Applied Biosystems), by use of fluorescence-based marker sets that included 345 markers. Both two-point and multipoint linkage analyses were performed, by use of affected/unaffected and quantitative-trait models. Spinal Z(BMD) for affected individuals (N = 12) of the kindred was 5.54 ± 1.40; and for unaffected individuals (N = 16) it was 0.41 ...
TY - JOUR. T1 - Linkage map of Salmonella typhimurium, edition VII. AU - Sanderson, K. E.. AU - Roth, J. R.. PY - 1988. Y1 - 1988. N2 - The genes of Salmonella typhimurium LT2 are located on a closed circular linkage map. The original map was determined by interrupted mating in F-mediated conjugation. More recent data are derived primarily from bacteriophage P22- and P1-mediated transduction and frome gene cloning and molecular analysis. The circular linkage map is set at 100 U to correspond with the 100-min map of Escherichia coli K-12. In this seventh edition of the linkage map, 750 genes are listed, with 680 of these located on the map and the remaining 70 being genes for which mutant alleles are known or which are cloned but not yet mapped. The linkage maps of S. typhimurium and E. coli K-12 are very similar. A plasmid, pSLT, present in all strains of LT2 except those from which it has been intentionally eliminated can carry mutations which affect the phenotype of the cell. Genetic materials ...
Linkage refers to the association and co-inheritance of two DNA segments because they reside close together on the same chromosome. Recombination is the process by which they become separated during crossing over, Physical linkage of genes simply means they are on the same chromosome. To be genetically linked, a pair of genes must be close enough that they are unlikely to be separated by crossing over. which occurs during meiosis. The existence of linkage and the frequency of recombination allow chromosomes to be mapped to determine the relative positions and distances of the genes and other DNA sequences on them. Linkage analysis is also a key tool for discovering the location and ultimate identity of genes for inherited diseases.. ...
Background Abdominal aortic aneurysm (AAA) is a complex disorder with multiple genetic risk factors. Using affected relative pair linkage analysis, we previously identified an AAA susceptibility locus...
Previously, we reported significant linkage of body mass index (BMI) to chromosomes 6 and 11 across six examinations, covering 28 years, of the Framingham Heart Study. These results were on all individuals available at each exam, thus the sample size varied from exam to exam. To remove any effect of sample size variation we have now constructed six subsets; for each exam individuals were only included if they were measured at every exam, i.e. for each exam, included individuals comprise the intersection of the original six exams. This strategy preferentially removed older individuals who died before reaching the sixth exam, thus the intersection datasets are smaller (n = 1114) and significantly younger than the full datasets. We performed variance components linkage analysis on these intersection datasets and on their sex-specific subsets. Results from the sex-specific genome scans revealed 11 regions in which a sex-specific maximum lodscore was at least 2.0 for at least one dataset. Randomization tests
Previously, we reported significant linkage of body mass index (BMI) to chromosomes 6 and 11 across six examinations, covering 28 years, of the Framingham Heart Study. These results were on all individuals available at each exam, thus the sample size varied from exam to exam. To remove any effect of sample size variation we have now constructed six subsets; for each exam individuals were only included if they were measured at every exam, i.e. for each exam, included individuals comprise the intersection of the original six exams. This strategy preferentially removed older individuals who died before reaching the sixth exam, thus the intersection datasets are smaller (n = 1114) and significantly younger than the full datasets. We performed variance components linkage analysis on these intersection datasets and on their sex-specific subsets. Results from the sex-specific genome scans revealed 11 regions in which a sex-specific maximum lodscore was at least 2.0 for at least one dataset. Randomization tests
A linkage study aims at establishing linkage between genes. Linkage is the tendency for genes and other genetic markers to be inherited together because of their location near one another on the same chromosome. A genetic marker is simply a segment of DNA with an identifiable physical location on a chromosome whose inheritance can be followed. A genetic marker can have a function and thus be a gene. Or a marker can be a section of DNA with no known function. Because DNA segments that lie near each other on a chromosome tend to be inherited together, markers are often used as tools for tracking the inheritance pattern of a gene that has not yet been identified but whose approximate location is known. The statistical estimate of whether two loci are likely to lie near each other on a chromosome and are therefore likely to be inherited together is called a LOD score. A LOD score of 3 or more is generally taken to indicate that the two loci are linked and are close to one another. Today linkage ...
The collaborative International Endogene Study consists of two data sets (Oxford and Australia) comprising 1176 families with multiple affecteds.. The aim of the research team was to investigate whether the apparent concentration of cases in a proportion of families could be explained by one or more rare variants with (near-)Mendelian autosomal inheritance.. Linkage analyses (aimed at finding chromosomal regions harbouring disease-predisposing genes) were conducted in families with three or more affected women with endometriosis. (Oxford: n=52; Australia: n=196). In the Oxford data set, a non-parametric linkage score (Kong & Cox (K&C) Log of ODds (LOD)) of 3.52 was observed on chromosome 7p (genome-wide significance P=0.011). A parametric MOD score (equal to maximum LOD maximized over 357 possible inheritance models) of 3.89 was found at 65.72 cM (D7S510) for a dominant model with reduced penetrance.. After including the Australian data set, the non-parametric K&C LOD of the combined data set ...
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TY - JOUR. T1 - Localization of a gene for familial recurrent arthritis. AU - Wise, Carol A.. AU - Bennett, Lynda B.. AU - Pascual, Virginia. AU - Gillum, Joseph D.. AU - Bowcock, Anne M.. PY - 2000/12/10. Y1 - 2000/12/10. N2 - Objective. To localize the gene for familial recurrent arthritis via a genome-wide linkage scan in an extended kindred with the disease. Methods. A 3-generation family in which 9 members were diagnosed with juvenile idiopathic arthritis (JIA) was ascertained. In this family the disease was of very early onset and included episodic inflammation leading to eventual destruction of joints, muscle, and skin. We treated this disorder as a distinct clinical entity that we have named familial recurrent arthritis. A genome-wide linkage scan with polymorphic microsatellites at 10 - 15-cM resolution was initiated. Results. The genome-wide scan generated a maximum 2-point logarithm of odds score with D15S211 (Z(max) = 3.27 at θ(max) = 0.0010). Haplotype reconstruction defined a ...
However, Cawthon and colleagues theorized that these mutations could be a biomarker for rates of aging and potentially predict lifespan in younger individuals as well as fertility in women.. The researchers sequenced DNA from 61 men and 61 women who were grandparents in 41 three-generational families. The families were part of the Centre dEtude du Polymorphisme Humain (CEPH) consortium, which was central to many key investigations that have contributed toward a modern understanding of human genetics.. The researchers analyzed blood DNA sequences in trios consisting of pairs of grandparents from the first generation and one of their children from the second generation. Thats because germline mutations are passed on to their offspring. Mutations found in the childs blood DNA that were not present in either parents blood DNA were then inferred to have originated in the parents germlines. The researchers were then able to determine which parent each germline mutation came from, and, therefore, ...
Patients with osteosarcoma were diagnosed at the Hemato-Oncology Unit, Hospital Infantil La Paz, Madrid. Linkage Analysis and genotyping analysis techniques with bioinformatics tools. Hashimoto T, Takahashi R, Yandell DW, et al. O ( Cawkwell L, Bell SM, Lewis FA, et al. Application of linkage analysis to genetic counselling in families with hereditary, 14. If you continue browsing the site, you agree to the use of cookies on this website. 800-638-3030 (within USA), 301-223-2300 (international). O In sporadic (hereditary nonfamilial) retinoblastoma, genotyping is irrelevant but the microsatellite analysis is important to the detection of large deletions, and functions as prescreening in the search of mutations that help to determine the risk in offspring. Lippincott Journals Subscribers, use your username or email along with your password to log in. Application of intragenic DNA probes in prenatal screening for, 29. Molecular detection of constitutional deletions in patients with, 2. Although ...
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Read High-resolution mapping of a linkage group on mouse chromosome 8 conserved on human chromosome 16Q, Mammalian Genome on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
Genes involved in pathways regulating body weight may operate differently in men and women. To determine whether sex-limited genes influence the obesity-related phenotype body mass index (BMI), we have conducted a general nonscalar sex-limited genome-wide linkage scan using variance components analysis in Mx (Neale, 2002). BMI measurements and genotypic data were available for 2053 Australian female and male adult twins and their siblings from 933 families. Clinical measures of BMI were available for 64.4% of these individuals, while only self-reported measures were available for the remaining participants. The mean age of participants was 39.0 years of age (SD 12.1 years). The use of a sex-limited linkage model identified areas on the genome where quantitative trait loci (QTL) effects differ between the sexes, particularly on chromosome 8 and 20, providing us with evidence that some of the genes responsible for BMI may have different effects in men and women. Our highest linkage peak was ...
Duration: Each subject who agrees to linkage will receive ALERT follow-up until successful linkage or 60 days following enrollment for linkage to care or 90 days following enrollment for linkage to PrEP, whichever comes first. The duration of the 593 project will be for 3.5 years or until all subjects have been enrolled and successfully linked, or 60 days pass for linkage to care or 90 days for linkage to PrEP.. Sample Size: Up to 600 subjects will be tested and offered linkage across all CCTG sites: LA County-USC Medical Center, Harbor-UCLA/City of Long Beach Department of Health and Human Services, UCSD/San Diego Health and Human Services Agency.. Study Population: Eligible subjects will include any persons 18 years of age or older who have been tested for HIV at one of the CCTG testing sites (LA County + USC, Long Beach Department of Health and Human Services, and San Diego Health and Human Services Agency). ...
To start a mating, place 4 to 5 young adult (or L4) males on a plate with 4 young adult (or L4) hermaphrodites. We will use plates seeded with a very small drop of OP50 bacteria for our crosses. Using only a small central area of the plate helps our worms find each other quickly and mate. The self-cross progeny produced by the hermaphrodite must be distinguished from outcross progeny. Generally, the hermaphrodite is homozygous for a visible marker and the progeny from self-crossing will show the same phenotype as the hermaphrodite, while progeny from a cross with a wild type male (outcross) will be heterozygous for the maternal marker and thus appear wild type if the mutation is recessive. When no other way is available to distinguish selfcross from outcross progeny, only males are scored. It is the outcross progeny of a mating that are of interest; essentially, all male progeny are crossprogeny. For this reason it is critical than the male transfer not be contaminated with any eggs or ...
A course for researchers who have a basic understanding of linkage analysis but little or no experience in using linkage programs will be held June 12-16 at Columbia Presbyterian Medical Center in New York City. Topics will include an introduction to linkage analysis, practical aspects of data collection, strategies and methods of linkage analysis, incomplete penetrance (narrow and wide definition), inbreeding loops, simple risk calculations, and introduction to computer simulation. A major part of the course will consist of exercises using LINKAGE software programs. Attendance is limited to 30. [Contact: Katherine Montague (212/960-2507, Fax: /568-2750, [email protected]).]. ...
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Linkage of genomewide scan: LOD=1.98, MLS=2.829, NPL=3 with ...... Linkage of genomewide scan: LOD=1.98, MLS=2.829, NPL=3 with marker D17S799; Family-specific linkage of fine mapping: LOD=3.4, NPLall Zb >12.0 with marker D17S1876;LOD=3.5, NPLall Zb >12.0 with marker D17S678;LOD=3.9, NPLall Zb >12.0 with marker D17S1881;LOD=3.8, NPLall Zb >12.0 with marker D17S1844;LOD=3.7, NPLall Zb >12.0 with marker D17S1791; Linkage of fine mapping in combined families: LOD=2.5, NPLall Zb >12.0 with marker D17S1876 More... ...
In contrast, Dupuis and Van Eerdewegh HST method [3] conditions on parental genotypes. They argue that if a parent is homozygous at all risk SNPs in a linked region, then it should not matter which haplotype is transmitted to affected offspring because they confer the same disease susceptibility. Hence, there should be no excess IBD sharing by affected siblings inherited from parents who are homozygous at all risk variants. However, if a particular set of SNPs is in linkage equilibrium with the susceptibility SNPs, the sharing probabilities should not depend on the parental genotypes, and the probabilities of IBD sharing from homozygous and heterozygous parents should be the same. For the intermediate situation in which the tested SNPs are in LD with risk variants, some increased sharing may be observed from homozygous parents, and the degree of excess sharing will depend on the LD between the tested SNPs and the disease SNPs. Therefore, they propose to compare the observed IBD sharing from ...
Linkage of at least two complementation groups of ataxia-telangiectasia (AT) to the chromosomal region 11q23 is now well established. We provide here an 18-point map of the surrounding genomic region, derived from linkage analysis of 40 CEPH families. On the basis of this map, 111 AT families from Turkey, Israel, England, Italy, and the United States were analyzed, localizing the AT gene(s) to an 8-cM sex-averaged interval between the markers STMY and D11S132/NCAM. A new Monte Carlo method for computing approximate location scores estimates this location as being at least 10(8) times more likely than the next most likely interval, with a support interval midway between STMY and D11S132 that is either 5 ...