نتایج جستجو برای: allelic frequencies

تعداد نتایج: 109218  

2015
Félix Javier Jiménez-Jiménez Elena García-Martín Hortensia Alonso-Navarro Carmen Martínez Martín Zurdo Laura Turpín-Fenoll Jorge Millán-Pascual Teresa Adeva-Bartolomé Esther Cubo Francisco Navacerrada Ana Rojo-Sebastián Lluisa Rubio Sara Ortega-Cubero Pau Pastor Marisol Calleja José Francisco Plaza-Nieto Belén Pilo-De-La-Fuente Margarita Arroyo-Solera Esteban García-Albea José A.G. Agúndez

Several recent works suggest a possible role of vitamin D deficiency in the etiology or restless legs syndrome (RLS). We analyzed the possible relationship of 2 common single nucleotide polymorphisms (SNPs) in the vitamin D3 receptor (VDR) gene with the risk for RLS.We studied the genotype and allelic variant frequencies of VDR rs2228570 and VDR rs731236 SNPs in 205 RLS patients and 445 healthy...

Journal: :Journal of clinical microbiology 2003
Timothy J Lott Ruth E Fundyga Mary E Brandt Lee H Harrison Andre N Sofair Rana A Hajjeh David W Warnock

Allelic distributions and frequencies of five Candida albicans microsatellite loci have been determined for strains isolated from the bloodstream and obtained through active population-based surveillance in two U.S. metropolitan areas between 1998 and 2000. These data were compared to data for isolates obtained from two other U.S. regions in 1992 to 1993. In a majority of pairwise combinations ...

Journal: :Stroke 2004
Taku Yoneyama Hidetoshi Kasuya Hiroyuki Akagawa Hideaki Onda Toshiaki Nakajima Tomokatsu Hori Ituro Inoue Jung-Chung Lee Tae-Ki Yang Chul-Jin Kim

BACKGROUND AND PURPOSE A possible association has been proposed for the formation of intracranial aneurysm (IA) and deficiency alleles (S and Z) of the alpha1-antitrypsin (AAT) gene. We extensively screened this gene in Japanese and Korean patients with aneurysmal subarachnoid hemorrhage. METHODS Seven allelic variants, including S and Z alleles, were genotyped by direct sequencing of genomic...

2011
Katsunori Hara Masakazu Akahori Masaki Tanito Sachiko Kaidzu Akihiro Ohira Takeshi Iwata

PURPOSE Previous studies have described a possible association between exfoliation syndrome (EX) and various ocular and systemic vascular disorders; however, the association between EX and branch retinal vein occlusion (BRVO) remains unclear. Because slit-lamp examination may overlook latent deposits of exfoliation materials, an ocular biopsy is usually needed for a precise diagnosis. We evalua...

2016
Victor Augusto Domingos Dias Rogério Abdallah Curi Guilherme Luis Pereira Jéssica Moraes Malheiros Rafael Espigolan Lúcia Galvão de Albuquerque Luis Artur Loyola Chardulo Henrique Nunes de Oliveira

The objective of this work was to estimate allelic frequencies of the polymorphisms IGF2/MboII (G > T) of the insulin‐like growth factor 2 (IGF2) gene, DQ499531.1:g.134A > T of the pro‐melanin‐concentrating hormone (PMCH) gene, and DQ667048.1:g.3290G > T of the RAR‐related orphan receptor C (RORC) gene in beef cattle of different genetic groups, and to evaluate the associations between these po...

Background: The Osteopontin (OPN) is a highly phosphorylated glycoprotein in numbers of bovine tissues and milk. OPN has been reported to be associated with milk production in cattle. Objective: The genotype and allelic frequencies for OPN and its association with milk production will be evaluated in Iranian Holstein Bulls.   Materials and Methods: Bulls DNA (100) was isolated. Oligo was used f...

Journal: :Genome research 2005
Bing Ge Scott Gurd Tiffany Gaudin Carole Dore Pierre Lepage Eef Harmsen Thomas J Hudson Tomi Pastinen

Cis-acting allelic variation in gene regulation is a source of phenotypic variation. Consequently, recent studies have experimentally screened human genes in an attempt to initiate a catalog of genes possessing cis-acting variants. In this study, we use human EST data in dbEST as the source of allelic expression data, and the HapMap database to provide expected allele frequencies in human popul...

Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...

بختیاری, سالار, سایه میری, فاطمه, مشتاقی, سید علی اصغر,

Background and purpose: The E23K polymorphism of ATP-sensitive potassium channel kcnj11 gene leads to the conversion of glutamate to lysine amino acids and this substitution is associated with increased risk of several diseases such as diabetes. We aimed to examine the association between kcnj11 E23K variation and risk of type 2 diabetes mellitus (T2DM) in a Kurdish population. Materials and m...

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