The Experts below are selected from a list of 136263 Experts worldwide ranked by ideXlab platform
Anee Deka - One of the best experts on this subject based on the ideXlab platform.
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Identification of a PstI polymorphism in the p21Cip1/Waf1 cyclin-dependent kinase inhibitor gene.
Human Genetics, 1995Co-Authors: Anee DekaAbstract:A PstI polymorphism in the 3′ flanking region of the p21CiP1/Waf1 cyclin-dependent kinase inhibitor gene is described. DNA sequencing analysis identified a C→T base substitution in the 3′ flanking region of the gene. This substitution leads to the destruction of a PstI site and results in a biallelic DNA polymorphism. This restriction fragment length polymorphism (RFLP) provides the first known Genetic Marker for this cell cycle regulatory gene.
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identification of a psti polymorphism in the p21cip1 waf1 cyclin dependent kinase inhibitor gene
Human Genetics, 1995Co-Authors: Anee DekaAbstract:A PstI polymorphism in the 3′ flanking region of the p21CiP1/Waf1 cyclin-dependent kinase inhibitor gene is described. DNA sequencing analysis identified a C→T base substitution in the 3′ flanking region of the gene. This substitution leads to the destruction of a PstI site and results in a biallelic DNA polymorphism. This restriction fragment length polymorphism (RFLP) provides the first known Genetic Marker for this cell cycle regulatory gene.
Judith R Kidd - One of the best experts on this subject based on the ideXlab platform.
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current sequencing technology makes microhaplotypes a powerful new type of Genetic Marker for forensics
Forensic Science International-genetics, 2014Co-Authors: Kenneth K Kidd, Andrew J Pakstis, William C Speed, Robert Lagace, Joseph Chang, Sharon Wootton, Eva Haigh, Judith R KiddAbstract:Abstract SNPs that are molecularly very close ( −4 . Multiple haplotypes will often exist because of the history of the origins of the variants at the different sites, rare recombinants, and the vagaries of random Genetic drift and/or selection. Such multiallelic haplotype loci are potentially important in forensic work for individual identification, for defining ancestry, and for identifying familial relationships. The new DNA sequencing capabilities currently available make possible continuous runs of a few hundred base pairs so that we can now determine the allelic combination of multiple SNPs on each chromosome of an individual, i.e., the phase, for multiple SNPs within a small segment of DNA. Therefore, we have begun to identify regions, encompassing two to four SNPs with an extent of
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current sequencing technology makes microhaplotypes a powerful new type of Genetic Marker for forensics
Forensic Science International-genetics, 2014Co-Authors: Kenneth K Kidd, Andrew J Pakstis, William C Speed, Robert Lagace, Joseph Chang, Sharon Wootton, Eva Haigh, Judith R KiddAbstract:SNPs that are molecularly very close (<10kb) will generally have extremely low recombination rates, much less than 10(-4). Multiple haplotypes will often exist because of the history of the origins of the variants at the different sites, rare recombinants, and the vagaries of random Genetic drift and/or selection. Such multiallelic haplotype loci are potentially important in forensic work for individual identification, for defining ancestry, and for identifying familial relationships. The new DNA sequencing capabilities currently available make possible continuous runs of a few hundred base pairs so that we can now determine the allelic combination of multiple SNPs on each chromosome of an individual, i.e., the phase, for multiple SNPs within a small segment of DNA. Therefore, we have begun to identify regions, encompassing two to four SNPs with an extent of <200bp that define multiallelic haplotype loci. We have identified candidate regions and have collected pilot data on many candidate microhaplotype loci. Here we present 31 microhaplotype loci that have at least three alleles, have high heterozygosity, are globally informative, and are statistically independent at the population level. This study of microhaplotype loci (microhaps) provides proof of principle that such Markers exist and validates their usefulness for ancestry inference, lineage-clan-family inference, and individual identification. The true value of microhaplotypes will come with sequencing methods that can establish alleles unambiguously, including disentangling of mixtures, because a single sequencing run on a single strand of DNA will encompass all of the SNPs.
Kenneth K Kidd - One of the best experts on this subject based on the ideXlab platform.
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current sequencing technology makes microhaplotypes a powerful new type of Genetic Marker for forensics
Forensic Science International-genetics, 2014Co-Authors: Kenneth K Kidd, Andrew J Pakstis, William C Speed, Robert Lagace, Joseph Chang, Sharon Wootton, Eva Haigh, Judith R KiddAbstract:Abstract SNPs that are molecularly very close ( −4 . Multiple haplotypes will often exist because of the history of the origins of the variants at the different sites, rare recombinants, and the vagaries of random Genetic drift and/or selection. Such multiallelic haplotype loci are potentially important in forensic work for individual identification, for defining ancestry, and for identifying familial relationships. The new DNA sequencing capabilities currently available make possible continuous runs of a few hundred base pairs so that we can now determine the allelic combination of multiple SNPs on each chromosome of an individual, i.e., the phase, for multiple SNPs within a small segment of DNA. Therefore, we have begun to identify regions, encompassing two to four SNPs with an extent of
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current sequencing technology makes microhaplotypes a powerful new type of Genetic Marker for forensics
Forensic Science International-genetics, 2014Co-Authors: Kenneth K Kidd, Andrew J Pakstis, William C Speed, Robert Lagace, Joseph Chang, Sharon Wootton, Eva Haigh, Judith R KiddAbstract:SNPs that are molecularly very close (<10kb) will generally have extremely low recombination rates, much less than 10(-4). Multiple haplotypes will often exist because of the history of the origins of the variants at the different sites, rare recombinants, and the vagaries of random Genetic drift and/or selection. Such multiallelic haplotype loci are potentially important in forensic work for individual identification, for defining ancestry, and for identifying familial relationships. The new DNA sequencing capabilities currently available make possible continuous runs of a few hundred base pairs so that we can now determine the allelic combination of multiple SNPs on each chromosome of an individual, i.e., the phase, for multiple SNPs within a small segment of DNA. Therefore, we have begun to identify regions, encompassing two to four SNPs with an extent of <200bp that define multiallelic haplotype loci. We have identified candidate regions and have collected pilot data on many candidate microhaplotype loci. Here we present 31 microhaplotype loci that have at least three alleles, have high heterozygosity, are globally informative, and are statistically independent at the population level. This study of microhaplotype loci (microhaps) provides proof of principle that such Markers exist and validates their usefulness for ancestry inference, lineage-clan-family inference, and individual identification. The true value of microhaplotypes will come with sequencing methods that can establish alleles unambiguously, including disentangling of mixtures, because a single sequencing run on a single strand of DNA will encompass all of the SNPs.
Hilleke Hulshoff E Pol - One of the best experts on this subject based on the ideXlab platform.
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structural brain connectivity as a Genetic Marker for schizophrenia
JAMA Psychiatry, 2016Co-Authors: Marc M Bohlken, Rachel M Brouwer, Rene C W Mandl, Martijn P Van Den Heuvel, Anna M Hedman, Marc De Hert, Wiepke Cahn, Rene S Kahn, Hilleke Hulshoff E PolAbstract:Importance Schizophrenia is accompanied by a loss of integrity of white matter connections that compose the structural brain network, which is believed to diminish the efficiency of information transfer among brain regions. However, it is unclear to what extent these abnormalities are influenced by the Genetic liability for developing the disease. Objective To determine whether white matter integrity is associated with the Genetic liability for developing schizophrenia. Design, Setting, and Participants In 70 individual twins discordant for schizophrenia and 130 matched individual healthy control twins, structural equation modeling was applied to quantify unique contributions of Genetic and environmental factors on brain connectivity and disease liability. The data for this study were collected from October 1, 2008, to September 30, 2013. The data analysis was performed between November 1, 2013, and March 30, 2015. Main Outcome Measures Structural connectivity and network efficiency were assessed through diffusion-weighted imaging, measuring fractional anisotropy (FA) and streamlines. Results The sample included 30 monozygotic twins matched to 72 control participants and 40 dizygotic twins matched to 58 control participants. Lower global FA was significantly correlated with increased schizophrenia liability (phenotypic correlation, −0.25; 95% CI, −0.38 to −0.10; P = .001), with 83.4% explained by common genes. In total, 8.1% of Genetic variation in global FA was shared with Genetic variance in schizophrenia liability. Local reductions in network connectivity (as defined by FA-weighted local efficiency) of frontal, striatal, and thalamic regions encompassed 85.7% of Genetically affected areas. Multivariate Genetic modeling revealed that global FA contributed independently of other Genetic Markers, such as white matter volume and cortical thickness, to schizophrenia liability. Conclusions and Relevance Global reductions in white matter integrity in schizophrenia are largely explained by the Genetic risk of developing the disease. Network analysis revealed that Genetic liability for schizophrenia is primarily associated with reductions in connectivity of frontal and subcortical regions, indicating a loss of integrity along the white matter fibers in these regions. The reported reductions in white matter integrity likely represent a separate and novel Genetic vulnerability Marker for schizophrenia.
Philip J. Thomas - One of the best experts on this subject based on the ideXlab platform.
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Protein solubility and folding monitored in vivo structural complementation of a Genetic Marker protein
Nature Biotechnology, 2001Co-Authors: W. Christian Wigley, Rhesa D. Stidham, Nathan M. Smith, John F. Hunt, Philip J. ThomasAbstract:Protein misfolding is the basis of a number of human diseases and presents an obstacle to the production of soluble recombinant proteins. We present a general method to assess the solubility and folding of proteins in vivo. The basis of this assay is structural complementation between the alpha- and omega- fragments of beta-galactosidase (beta-gal). Fusions of the alpha-fragment to the C terminus of target proteins with widely varying in vivo folding yield and/or solubility levels, including the Alzheimer's amyloid beta (A beta) peptide and a non-amyloidogenic mutant thereof, reveal an unambiguous correlation between beta-gal activity and the solubility/folding of the target. Thus, structural complementation provides a means of monitoring protein solubility/misfolding in vivo, and should find utility in the screening for compounds that influence the pathological consequences of these processes.