نتایج جستجو برای: haplotype analysis

تعداد نتایج: 2832840  

Journal: :Human molecular genetics 1996
E E Eichler J N Macpherson A Murray P A Jacobs A Chakravarti D L Nelson

To understand the origins of the fragile X syndrome and factors predisposing alleles to instability and hyperexpansion, we have compared the haplotype (using markers FRAXAC1, FRAXAC2, and DXS548) and AGG interspersion patterns of the FMR1 CGG repeat for 214 normal and 16 premutation chromosomes. Association testing between interspersion pattern and haplotype reveals a highly significant (P < 0....

Journal: :American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012
Ashley P Kennedy Elisabeth B Binder Dubois Bowman Keith Harenski Timothy Ely Josh M Cisler Shanti P Tripathi Sidney VanNess Clinton D Kilts

The monoamine neurotransmitter, serotonin, critically regulates the function of the cerebral cortex and is involved in psychiatric disorders. Tryptophan hydroxylase (TPH) is the rate-limiting enzyme in the synthesis of serotonin with the neuron-specific TPH2 isoform present exclusively in the brain and encoded by the TPH2 gene on chromosome 12q21. The haplotype structure of TPH2 was defined for...

Journal: :Folia parasitologica 2017
Jacek Karamon Krzysztof Stojecki Malgorzata Samorek-Pierog Ewa Bilska-Zajac Miroslaw Rozycki Ewa Chmurzynska Jacek Sroka Jolanta Zdybel Tomasz Cencek

The aim of the present study was to estimate the genetic diversity of the cestode Echinococcus multilocularis Leuckart, 1863 in Poland based on sequence analysis of the mitochondrial genes of worms isolated from red foxes, Vulpes vulpes (Linnaeus). Overall, 83 adults of E. multilocularis from the same number of foxes in different parts of Poland were used for analysis. Sequences of the three mi...

2013
Chi Song Gary K. Chen Robert C. Millikan Christine B. Ambrosone Esther M. John Leslie Bernstein Wei Zheng Jennifer J. Hu Regina G. Ziegler Sarah Nyante Elisa V. Bandera Sue A. Ingles Michael F. Press Sandra L. Deming Jorge L. Rodriguez-Gil Stephen J. Chanock Peggy Wan Xin Sheng Loreall C. Pooler David J. Van Den Berg Loic Le Marchand Laurence N. Kolonel Brian E. Henderson Chris A. Haiman Daniel O. Stram

Genome-wide association studies (GWAS) simultaneously investigating hundreds of thousands of single nucleotide polymorphisms (SNP) have become a powerful tool in the investigation of new disease susceptibility loci. Haplotypes are sometimes thought to be superior to SNPs and are promising in genetic association analyses. The application of genome-wide haplotype analysis, however, is hindered by...

The haplotype inference is one of the most important issues in the field of bioinformatics. It is because of its various applications in the diagnosis and treatment of inherited diseases such as diabetes, Alzheimer's and heart disease, which has provided a competition for researchers in presentation of mathematical models and design of algorithms to solve this problem. Despite the existence of ...

2009
Heike Kölsch Dieter Lütjohann Frank Jessen Julius Popp Frank Hentschel Peter Kelemen Silvia Friedrichs TA Wolfgang Maier Reinhard Heun

Cholesterol metabolism is altered in Alzheimer's disease (AD). The nuclear hormone receptor Retinoic X Receptor a (RXRa) is a member of the nuclear ligand-activated transcription factor family. RXRs are key regulators of cholesterol synthesis and thus cholesterol metabolism. We performed a systematic screen for gene variants in the RXRA gene. The effect of these gene variants on the risk of AD ...

Journal: :Blood 1994
S Nakao H Takamatsu T Chuhjo M Ueda S Shiobara T Matsuda T Kaneshige H Mizoguchi

Hematopoietic function of some aplastic anemia (AA) patients is dependent on the administration of cyclosporine (CyA). To investigate whether certain HLA class II genes are associated with susceptibility to such CyA-dependent AA, we determined the HLA class II alleles of 59 AA patients treated with CyA. Among 26 patients successfully treated with CyA, 13 required a small dose of CyA to maintain...

Journal: :Genetics 2010
Sharon R Browning Bruce S Weir

We propose a multilocus version of F(ST) and a measure of haplotype diversity using localized haplotype clusters. Specifically, we use haplotype clusters identified with BEAGLE, which is a program implementing a hidden Markov model for localized haplotype clustering and performing several functions including inference of haplotype phase. We apply this methodology to HapMap phase 3 data. With th...

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