نتایج جستجو برای: y polymorphisms

تعداد نتایج: 560033  

2007
K. S. Kim K. Tanaka D. B. Ismail S. Maruyama H. Matsubayashi H. Endo K. Fukuta J. Kimura

Mouse deer is known as the smallest and one of the most primitive ruminants. The lesser and the greater mouse deer originated in three different parts of Malaysia were examined for cytogenetic study. The chromosome number of the mouse deer was 2n=32, consisted of 15 metacentric autosome pairs and X and Y sex chromosome pair. G-, R-band revealed polymorphisms of sex chromosomes among the mouse d...

Journal: :Journal of the National Cancer Institute 2007
Sharon R Pine Leah E Mechanic Stefan Ambs Elise D Bowman Stephen J Chanock Christopher Loffredo Peter G Shields Curtis C Harris

BACKGROUND The relationship among chronic inflammation, innate immunity, and cancer is well established. Mannose-binding lectin (MBL) is a key player in innate immunity. Five polymorphisms in the promoter and first exon of the MBL2 gene alter the expression and function of MBL in humans and are associated with inflammation-related disease susceptibility. These five polymorphisms create six well...

Journal: :iranian journal of allergy, asthma and immunology 0
ahmad soltani department of cell and molecular biology, faculty of science, university of tehran, tehran, iran. sara rahmatirad department of cell and molecular biology, faculty of science, university of tehran, tehran, iran. zahra pourpak immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran. zahra alizadeh immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran. shiva saghafi immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran. bashir hajibeigi tehran blood transfusion organization, tehran, iran.

mannose-binding lectin (mbl) is a ca⁺² -dependent collagenous lectin, that is produced by liver and mediates innate immune responses by opsonization of pathogens. the serum level of mbl varies widely among healthy individuals, ranging from 0.05 µg/ml (or lower) to over 5 µg/ml, mainly depending on genetic variation. this study has examined promoter and exon 1 of mbl2 genotype among 117 iranian ...

Journal: :Journal of hypertension 2003
Léon H Henskens Wilko Spiering Henri E Stoffers Frank L Soomers Robert F Vlietinck Peter W de Leeuw Abraham A Kroon

BACKGROUND Several studies have assessed the relationship between the angiotensin-converting enzyme (ACE) I/D or angiotensin II type 1 receptor (AT(1)R)-A C polymorphisms and blood pressure (BP). Since most data have been obtained in selected populations, the present study was performed in a healthy normotensive primary care population. OBJECTIVE To investigate the individual effects of the a...

2006
John F. Chandler

Relative per-locus mutation rates for Y-DNA microsatellites, and also for mitochondrial DNA singlenucleotide polymorphisms, can be estimated directly from diverse collections of haplotypes without segregating population components. The calibrated average mutation rates for the FTDNA panels of 12, 25, and 37 loci are 0.00187±0.00028, 0.00278±0.00042, and 0.00492±0.00074, respectively, from a col...

Journal: :Mediterranean journal of hematology and infectious diseases 2016
Mathew Zachariah Shoaib Al Zadjali Wafa Bashir Rahma Al Ambusaidi Rhea Misquith Yasser Wali Anil Pathare

OBJECTIVES Our aim was to study mannose-binding protein (MBP) polymorphisms in exonic and promoter region and correlate it with associated infections and vasoocculsive (VOC) episodes in sickle cell disease (SCD) patients since MBP plays an important role in innate immunity by activating the complement system. METHODS We studied the genetic polymorphisms in the Exon 1 (alleles A/O) and promote...

2014
John C. Aldrich Keith A. Maggert Nadia Singh

Heterochromatin is a significant component of the human genome and the genomes of most model organisms. Although heterochromatin is thought to be largely non-coding, it is clear that it plays an important role in chromosome structure and gene regulation. Despite a growing awareness of its functional significance, the repetitive sequences underlying some heterochromatin remain relatively unchara...

2016
Chuncheng Lu Yang Wen Weiyue Hu Feng Lu Yufeng Qin Ying Wang Shilin Li Shuping Yang Yuan Lin Cheng Wang Li Jin Hongbing Shen Jiahao Sha Xinru Wang Zhibin Hu Yankai Xia

The Y chromosome has high genetic variability with low rates of parallel and back mutations, which make up the most informative haplotyping system. To examine whether Y chromosome haplogroups (Y-hgs) could modify the effects of autosomal variants on non-obstructive azoospermia (NOA), based on our previous genome-wide association study (GWAS), we conducted a genetic interaction analysis in GWAS ...

Journal: :Gene 2003
Pauline A Callinan Dale J Hedges Abdel-Halim Salem Jinchuan Xing Jerilyn A Walker Randall K Garber W Scott Watkins Michael J Bamshad Lynn B Jorde Mark A Batzer

A comprehensive analysis of the human sex chromosomes was undertaken to assess Alu-associated human genomic diversity and to identify novel Alu insertion polymorphisms for the study of human evolution. Three hundred forty-five recently integrated Alu elements from eight different Alu subfamilies were identified on the X and Y chromosomes, 225 of which were selected and analyzed by polymerase ch...

Journal: :American journal of human genetics 2004
Lev A Zhivotovsky Peter A Underhill Cengiz Cinnioğlu Manfred Kayser Bharti Morar Toomas Kivisild Rosaria Scozzari Fulvio Cruciani Giovanni Destro-Bisol Gabriella Spedini Geoffrey K Chambers Rene J Herrera Kiau Kiun Yong David Gresham Ivailo Tournev Marcus W Feldman Luba Kalaydjieva

We estimate an effective mutation rate at an average Y chromosome short-tandem repeat locus as 6.9x10-4 per 25 years, with a standard deviation across loci of 5.7x10-4, using data on microsatellite variation within Y chromosome haplogroups defined by unique-event polymorphisms in populations with documented short-term histories, as well as comparative data on worldwide populations at both the Y...

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