on MHC & Leukemia Associations in Humans
... Homozygosity for HLA-DRB4 family is associated with susceptibility to childhood ALL in boys only (P < 0.0001, OR = 6.1, 95% CI = 2.9 to 12.6 ) Controls are an unselected group of local newborns (201 boys & 214 girls) * Case-only analysis P = 0.002 (OR = 5.6; 95% CI = 1.8 to 17.6) This association ex ...
... Homozygosity for HLA-DRB4 family is associated with susceptibility to childhood ALL in boys only (P < 0.0001, OR = 6.1, 95% CI = 2.9 to 12.6 ) Controls are an unselected group of local newborns (201 boys & 214 girls) * Case-only analysis P = 0.002 (OR = 5.6; 95% CI = 1.8 to 17.6) This association ex ...
Major Histocompatibility Complex 02/28/06
... Up to six allelic variants ~100,000 MHC molecule variants per cell ~ 100 MHC-peptide complexes required for T cytotoxic cell recognition ...
... Up to six allelic variants ~100,000 MHC molecule variants per cell ~ 100 MHC-peptide complexes required for T cytotoxic cell recognition ...
Genetic Analysis of HNF4A Polymorphisms in Caucasian
... region because mutations in HNF4A have been implicated in the maturity-onset diabetes of the young type 1 subtype of type 2 diabetes, a monogenic form of type 2 diabetes characterized by defective insulin secretion (8). HNF4A is a member of the steroid/thyroid hormone receptor superfamily of transcr ...
... region because mutations in HNF4A have been implicated in the maturity-onset diabetes of the young type 1 subtype of type 2 diabetes, a monogenic form of type 2 diabetes characterized by defective insulin secretion (8). HNF4A is a member of the steroid/thyroid hormone receptor superfamily of transcr ...
Proof-of-principle rapid noninvasive prenatal diagnosis
... carriers in addition to the mother in family 2 (Figure 1). For family 1, the N370S carrier father was completely homozygous for the entire consensus N370S sequence. This precluded the use of the N370S haplotype for NIPD of his allele. Nonetheless, the familial mutation-linked haplotype of the father ...
... carriers in addition to the mother in family 2 (Figure 1). For family 1, the N370S carrier father was completely homozygous for the entire consensus N370S sequence. This precluded the use of the N370S haplotype for NIPD of his allele. Nonetheless, the familial mutation-linked haplotype of the father ...
Single Nucleotide Polymorphisms (SNPs) in the C5 gene affect
... mice6, indicating that C5 is crucially involved in the process that contributes to arthritis. In this study, we investigated the contribution of the C5 gene in human rheumatoid arthritis. We show that in the human C5 locus, SNPs rs25681 (C), rs17611 (G) and rs2416808 (G) are significantly associated ...
... mice6, indicating that C5 is crucially involved in the process that contributes to arthritis. In this study, we investigated the contribution of the C5 gene in human rheumatoid arthritis. We show that in the human C5 locus, SNPs rs25681 (C), rs17611 (G) and rs2416808 (G) are significantly associated ...
Estimating Haplotype Relative Risks on Human Survival in
... multi-locus statistical approaches [5] that take into account the interdependence of genetic variants important in complex disease etiology are appealing. Because particular DNA variants may remain together on ancestral haplotypes (set of ordered markers) for many generations, groups of neighboring ...
... multi-locus statistical approaches [5] that take into account the interdependence of genetic variants important in complex disease etiology are appealing. Because particular DNA variants may remain together on ancestral haplotypes (set of ordered markers) for many generations, groups of neighboring ...
A Cladistic Analysis of Phenotype Associations with
... Genes that code for products involved in the physiology of a phenotype are logical candidates for explaining interindividual variation in that phenotype. We present a methodology for discovering associations between genetic variation at such candidate loci (assayedthrough restriction endonuclease ma ...
... Genes that code for products involved in the physiology of a phenotype are logical candidates for explaining interindividual variation in that phenotype. We present a methodology for discovering associations between genetic variation at such candidate loci (assayedthrough restriction endonuclease ma ...
Extracting Haplotypes from Diploid Organisms
... complex large plants and animals. At present, by far the biggest increase has come from human population studies. Over 10 million common single nucleotide polymorphisms (SNPs) have been identified in the human genome (the International HapMap Consortium 2005). Indeed, it was the Human Genome Project ...
... complex large plants and animals. At present, by far the biggest increase has come from human population studies. Over 10 million common single nucleotide polymorphisms (SNPs) have been identified in the human genome (the International HapMap Consortium 2005). Indeed, it was the Human Genome Project ...
Morgan and Linkage
... of recombinations expected to occur for our mythical average chromosome is around 1 for males and 2 for females. To make life easy, let’s just consider males and fix the average recombination frequency at 1. Suppose that you are a male and have a dominant allele on one “average” chromosome and a rec ...
... of recombinations expected to occur for our mythical average chromosome is around 1 for males and 2 for females. To make life easy, let’s just consider males and fix the average recombination frequency at 1. Suppose that you are a male and have a dominant allele on one “average” chromosome and a rec ...
Autoimmune diseases
... CYP21B(A2) encodes steroid 21 hydroxylase and its absence results in congenital adrenal hyperplasia, a recessive disease due to a failure to synthesize cortisol; this causes androgenic precursor over- production Androgen excess leads to ambiguous genitalia in females, rapid somatic growth during chi ...
... CYP21B(A2) encodes steroid 21 hydroxylase and its absence results in congenital adrenal hyperplasia, a recessive disease due to a failure to synthesize cortisol; this causes androgenic precursor over- production Androgen excess leads to ambiguous genitalia in females, rapid somatic growth during chi ...
A sample article title
... metalloproteinases (MMPs) disrupt extracellular matrix, are present in atherosclerotic plaques, and appear to be more active in unstable lesions. Therefore, MMPs may play an important role in plaque rupture and the posterior remodeling of the vessel wall [2]. In particular, MMP-1 (collagenase-1) has ...
... metalloproteinases (MMPs) disrupt extracellular matrix, are present in atherosclerotic plaques, and appear to be more active in unstable lesions. Therefore, MMPs may play an important role in plaque rupture and the posterior remodeling of the vessel wall [2]. In particular, MMP-1 (collagenase-1) has ...
Robust tests of association for multilocus haplotypes in nuclear
... of uncertain multilocus haplotypes in nuclear families. Family-based designs, consisting of a proband, its two parents and some number of full siblings, are popular because they control for population stratification and provide well-matched controls (Cardon and Palmer 2003). A haplotype is a set of ...
... of uncertain multilocus haplotypes in nuclear families. Family-based designs, consisting of a proband, its two parents and some number of full siblings, are popular because they control for population stratification and provide well-matched controls (Cardon and Palmer 2003). A haplotype is a set of ...
Bayesian association of haplotypes and non
... Edward S. Rogers Department of Electrical and Computer Engineering University of Toronto ...
... Edward S. Rogers Department of Electrical and Computer Engineering University of Toronto ...
Genetic Codes Explained
... The term “haplotype” refers to a group of Alleles that are located at nearby positions on the chromosome which are usually inherited together. Modern genomic tools have been used to identify thousands of haplotypes on each chromosome; each has a positive, neutral or negative association with product ...
... The term “haplotype” refers to a group of Alleles that are located at nearby positions on the chromosome which are usually inherited together. Modern genomic tools have been used to identify thousands of haplotypes on each chromosome; each has a positive, neutral or negative association with product ...
Full-text PDF
... Yoruba people in Ibadan Nigeria, West Africa (YRI). The NAT2 gene are said to be related to the susceptibility to some toxicities and cancers [7], [10]. Thus it is very important to study the differences of the NAT 2 genes among different populations to elucidate the ethnic difference in such suscep ...
... Yoruba people in Ibadan Nigeria, West Africa (YRI). The NAT2 gene are said to be related to the susceptibility to some toxicities and cancers [7], [10]. Thus it is very important to study the differences of the NAT 2 genes among different populations to elucidate the ethnic difference in such suscep ...
Halpotyping - CS, Technion
... An ergodic Markov chain is constructed such that stationary distribution is P(f(c)|d) The sampling is done with Gibbs sampler An Ergodic property of Markov chain is satisfied with use of Metropolis jump kernels The Gibbs-Jumping name is assigned to algorithm ...
... An ergodic Markov chain is constructed such that stationary distribution is P(f(c)|d) The sampling is done with Gibbs sampler An Ergodic property of Markov chain is satisfied with use of Metropolis jump kernels The Gibbs-Jumping name is assigned to algorithm ...
Document
... Def: A significantly increased or decreased frequency of a marker allele with a disease trait and represents deviations from the random occurrence of the alleles regarding the disease phenotypes Linkage disequilibrium means allelic association caused or maintained by tight linkage ...
... Def: A significantly increased or decreased frequency of a marker allele with a disease trait and represents deviations from the random occurrence of the alleles regarding the disease phenotypes Linkage disequilibrium means allelic association caused or maintained by tight linkage ...
From linkage analysis to linkage disequilibrium mapping: the case of
... Linkage analysis is a powerful tool for detecting ‘major’ genes which does not require a candidate and is, therefore, a means of genome screening. However, its main limitation is its low-resolution mapping of the linked chromosomal interval (usually some cM), which could contain tens, or hundreds, o ...
... Linkage analysis is a powerful tool for detecting ‘major’ genes which does not require a candidate and is, therefore, a means of genome screening. However, its main limitation is its low-resolution mapping of the linked chromosomal interval (usually some cM), which could contain tens, or hundreds, o ...
A single-nucleotide polymorphism tagging set for human drug
... Carlson, C.S. et al. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am. J. Hum. Genet. 74, 106−120 (2004). ...
... Carlson, C.S. et al. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am. J. Hum. Genet. 74, 106−120 (2004). ...
working with arlequin and others - HLA-net
... association of alleles taken at two different loci. However, the usual linkage disequilibrium coefficient, D = pij − pi . p j , is strongly dependent upon allele frequencies and does not take 0 and 1 as minimal and maximal values, respectively. D coefficients are thus neither comparable among differ ...
... association of alleles taken at two different loci. However, the usual linkage disequilibrium coefficient, D = pij − pi . p j , is strongly dependent upon allele frequencies and does not take 0 and 1 as minimal and maximal values, respectively. D coefficients are thus neither comparable among differ ...
THE MAJOR HISTOCOMPATIBILITY COMPLEX (MHC) AND ITS
... immune complexes to bind to complement receptors, and a reduced ability to inhibit immune precipitation. All of these procedures may contribute to the tissue inflammation in SLE and other autoimmune diseases. We also observed strong linkage disequilibrium was also observed between the C4A6 B1 haplo ...
... immune complexes to bind to complement receptors, and a reduced ability to inhibit immune precipitation. All of these procedures may contribute to the tissue inflammation in SLE and other autoimmune diseases. We also observed strong linkage disequilibrium was also observed between the C4A6 B1 haplo ...
THE DLA DIVERSITY OF KROMFOHRLÄNDERS Dogs
... Some dog breeds have very limited DLA gene diversity and this makes them susceptible to different autoimmune diseases. Dozens of such diseases are known, among them diabetes, lupus, rheumatism, polyarthritis, hypothyroidism, immune-mediated hemolytic anemia, Addison's disease and perianal fistelia. ...
... Some dog breeds have very limited DLA gene diversity and this makes them susceptible to different autoimmune diseases. Dozens of such diseases are known, among them diabetes, lupus, rheumatism, polyarthritis, hypothyroidism, immune-mediated hemolytic anemia, Addison's disease and perianal fistelia. ...
Fine scale mapping
... Effects of recent shared ancestry of less importance, so simple model assumed: f(A,U|x,M) = f(A|x,M) f(U|h) The likelihood, f(U|h), depends only on population SNP haplotype frequencies, h. For many SNPs, the number of possible haplotypes is large, so frequencies are parameterised in terms of allele ...
... Effects of recent shared ancestry of less importance, so simple model assumed: f(A,U|x,M) = f(A|x,M) f(U|h) The likelihood, f(U|h), depends only on population SNP haplotype frequencies, h. For many SNPs, the number of possible haplotypes is large, so frequencies are parameterised in terms of allele ...
HLA A1-B8-DR3-DQ2
HLA A1-B8-DR3-DQ2 haplotype (Also: AH8.1, COX, Super B8, ancestral MHC 8.1 or 8.1 ancestral haplotype) is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be confused with the HLA-DQ heterodimer DQ8.1). A multigene haplotype is set of inherited alleles covering several genes, or gene-alleles; common multigene haplotypes are generally the result of descent by common ancestry (share a recent common ancestor for that segment of the chromosome). Chromosomal recombination fragments multigene haplotypes as the distance to that ancestor increases in number of generations.The haplotype can be written in an extended form covering the major histocompatibility loci as follows:HLA A*0101 : Cw*0701 : B*0801 : DRB1*0301 : DQA1*0501 : DQB1*0201 or shorthand A1::DQ2There are many other gene-alleles within the haplotype, including more than 250 coding loci that produce transcripts.At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome. A1::DQ2 creates a conundrum for the evolutionary study of recombination. The length of the haplotype is remarkable because of the rapid rate of evolution at the HLA locus should degrade such long haplotypes. A1::DQ2's origin is difficult to trace, suggestions of a common ancestor in Iberia or Africa have been put forward. Although its place of origin is not certain there is agreement that bearers of the European AH8.1 bear a haplotype related by a common descent. A1::DQ2 is the most frequent haplotype of its length found in US Caucasians, ~15% carry this common haplotype.Studies indicate that A1::DQ2 prominence is likely due to positive selection in the pre-Neolithic period and isolation in countries where wheat was not a prominent cereal. Outside of DR3-DQ2 with known associations to autoimmune disease, other factors within A1::DQ2 are believed to also contribute to autoimmune disease. Also a dozen inflammatory diseases of the immune system can attribute some risk to the haplotype. Some disease like coeliac disease primarily associate with certain genes. While other diseases, like type 1 diabetes may have several, highly different, genes that attribute risk. Still other diseases, like myasthenia gravis have undetermined linkage to the haplotype.