نتایج جستجو برای: y polymorphisms
تعداد نتایج: 560033 فیلتر نتایج به سال:
BACKGROUND/AIM Alzheimer disease (AD) is characterized by the accumulation of senile plaques composed of amyloid β-peptide, which is derived from β-amyloid precursor protein through degradation by β-secretase and y-secretase complexes. One of the major components of y-secretase complex, anterior pharynx-defective-1 (APH-1), is responsible for the activity of the γ-secretase complex. In this stu...
The clinical and hematological course of β thalassemia intermedia is influenced by a number of genetic factors which play a role in increasing fetal haemoglobin levels. Several polymorphisms located in the promoters of β and γ globin gene are involved in influencing the disease severity. Our objective was to study the effect of cis-DNA haplotypes, motifs, or polymorphisms (Pre G γ globin gene h...
A study of survival time of zygotes in utero and the relationship with parental phenotype of a series of genetic polymorphisms was carried out in 41 couples with habitual abortion. Variability of intrauterine survival time was found to be much higher between families than within families suggesting that several genetic entities contribute to the condition clinically defined as habitual abortion...
Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes Karin Schmitt, Douglas Votlrath, Simon Foote, Elizabeth M.C.Fisher, David C.Page and Norman Arnheim* Department of Bologica) Sciences, Molecular Btotogy Program, Universrty of Southern California, Los Angeles, CA 90089-1340 and 1 Howard Hughes Research Laboratories at Whitehead Institute, Massachusetts I...
BACKGROUND Mannose binding lectin, a plasma protein protects host from virus, bacteria, and parasites. Deficiency in MBL levels has been associated with susceptibility to various infectious diseases including P. falciparum malaria. Common MBL polymorphisms in promoter and coding regions are associated with decrease in plasma MBL levels or production of deformed MBL, respectively. In the present...
The Y chromosomes of Drosophila melanogaster and D. simulans contain only a handful of protein-coding genes, which are related to sperm mobility and reproductive fitness. Despite low or absent protein coding polymorphism, the Drosophila Y chromosome has been associated with natural phenotypic variation, including variation in the expression of hundreds to thousands of genes located on autosomes...
AIM To assess the frequency distribution of six Y-chromosomal specific short tandem repeat (STR) polymorphisms and frequencies of haplotypes in Turkish population. METHODS Blood samples were taken from 200 unrelated Turkish men from different regions of Turkey, who were involved in legal proceedings concerning paternity. The DNA was amplified and typed by use of Y-Plex 6 kit containing 6 Y-ST...
The human Y chromosome contains highly informative markers for making historical inferences about the pre-Columbian peopling of Americas. However, the scarcity of these markers has limited its use in the inference of shared ancestry and past migrations relevant to the origin of the culturally and biologically diverse Native Americans. To identify new single nucleotide polymorphisms (SNPs) and i...
The global pattern of variation at the homologous microsatellite loci DYS413 (Yq11) and DXS8174 and DXS8175 (Xp22) was analyzed by examination of 30 world populations from four continents, accounting for more than 1,100 chromosomes per locus. The data showed discordant patterns of among- and within-population gene diversity for the Y-linked and the X-linked microsatellites. For the Y-linked pol...
To facilitate evolutionary and forensic studies of DNA polymorphisms on the Y chromosome, we devised a multiplex amplification procedure for short-tandem-repeat (STR) loci. Four tetranucleotide STR loci (DYS19, DYS390, DYS391, and DYS393) were simultaneously amplified with FAM-labeled primers and genotypes were determined with an automated DNA sequencer. We typed 162 males from three U.S. popul...
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