نتایج جستجو برای: gene cluster haplotype

تعداد نتایج: 1321874  

Edward Graham Tuddenham, Manijeh Lak, Morteza Karimipour, Nafiseh Nafissi, Peter Green, Sirous Zeinali,

Background: Heterogeneous mutations in the human coagulation factor IX gene lead to an X-linked recessive bleeding disorder known as hemophilia B. The disease is distributed worldwide with no ethnic or geographical priority. Materials and Methods: The aim of this study was to characterize the factor IX gene mutations in 28 unrelated Iranian hemophilia B patients. Polymerase chain reaction (PCR)...

2016
Elena Buena-Atienza Klaus Rüther Britta Baumann Richard Bergholz David Birch Elfride De Baere Helene Dollfus Marie T. Greally Peter Gustavsson Christian P. Hamel John R. Heckenlively Bart P. Leroy Astrid S. Plomp Jan Willem R. Pott Katherine Rose Thomas Rosenberg Zornitza Stark Joke B. G. M. Verheij Richard Weleber Ditta Zobor Nicole Weisschuh Susanne Kohl Bernd Wissinger

X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L- and M- cone function due to defects in the OPN1LW/OPN1MW gene cluster. Here we investigated 24 affected males from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinatio...

2012
Qiang Zhang Mir Munir A. Rahim David S. J. Allan Megan M. Tu Simon Belanger Elias Abou-Samra Jaehun Ma Harman S. Sekhon Todd Fairhead Haggag S. Zein James R. Carlyle Stephen K. Anderson Andrew P. Makrigiannis

The Nkrp1 (Klrb1)-Clr (Clec2) genes encode a receptor-ligand system utilized by NK cells as an MHC-independent immunosurveillance strategy for innate immune responses. The related Ly49 family of MHC-I receptors displays extreme allelic polymorphism and haplotype plasticity. In contrast, previous BAC-mapping and aCGH studies in the mouse suggest the neighboring and related Nkrp1-Clr cluster is e...

2008
John E. Landers Lijia Shi Ting-Jan Cho Jonathan D. Glass Christopher E. Shaw P. Nigel Leigh Frank Diekstra Meraida Polak Ildefonso Rodriguez-Leyva Stephan Niemann Bryan J. Traynor Diane Mckenna-Yasek Peter C. Sapp Ammar Al-Chalabi Anne-Marie A. Wills Robert H. Brown

Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disorder of upper and lower motor neurons. Genetic variants in the paraoxonase gene cluster have been associated with susceptibility to sporadic ALS. Because these studies have yielded conflicting results, we have further investigated this association in a larger data set. Twenty SNPs spanning the paraoxonase gene cluster w...

Journal: :modares journal of medical sciences: pathobiology 2009
abdolhossein dalimi fatemeh jalousian siamak mirab samiee fatemeh ghaffarifar faramarz soleymanlou

objective: plasmodium falciparum chloroquine resistance is a major problem in malaria endemic areas. single nucleotide polymorphisms in pfcrt and pfmdr1 genes are known to be associated with chloroquine resistance in some parts of the world. the major goal of the present study was to detect the five single nucleotide polymorphisms in pfmdr1 gene and one single nucleotide polymorphisms in pfcrt ...

2008
DIDIK PRASETYO JITO SUGARDJITO

Analysis of the variation of D-Loop mtDNA of East Kalimantan orangutan was done to provided the genetic information data from endangerd species in order to support their population conservation efforts. The reason using mtDNA in this research is caused by higher level of mutation ( 5 – 10 trimes) when compared with nuclear DNA and it enable to transmited via maternal transmission without experi...

Journal: :International immunology 2004
George Füst Gudmundur J Arason Judith Kramer Csaba Szalai Jeno Duba Yan Yang Erwin K Chung Bi Zhou Carol A Blanchong Marja-Liisa Lokki Sigurdur Bödvarsson Zoltán Prohászka István Karádi Agnes Vatay Margit Kovács László Romics Gudmundur Thorgeirsson C Yung Yu

The genetic basis for addiction to tobacco smoking--particularly that of the perception of olfactory stimuli that may be important in reinforcing smoking addiction--is largely unknown. A cluster of genes for olfactory receptors is in close proximity to the MHC region on chromosome 6. Polymorphisms of MHC class III genes (RCCX modules, TNFA promoter polymorphisms) were determined in 101 healthy ...

Journal: :mycologia iranica 2014
mahmoud houshyarfard hamid rouhani mahrokh falahati-rastegar saeed malekzadeh-shafaroudi esmat mehdikhani-moghaddam

abstract: fifteen non-aflatoxigenic strains of aspergillus flavus, represent a wide range of geographic regions of iran (six provinces include fars, ardebil, guilan, golestan, kerman and semnan) and vegetative compatibility groups (vcgs), were collected from corn (zea mays l.), peanut (arachis hypogaea l.) and pistachio (pistachia vera l.) soils and kernels, were screened for the presence of af...

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