Electrophoretic Detection of Single-Nucleotide Polymorphisms [PDF]
BioTechniques, 2000 Single-nucleotide polymorphisms (SNPs) represent the most prevalent class of genetic markers available for linkage disequilibrium or cladistic analyses. PCR primers may be labeled with fluorescent dyes and used to rapidly and accurately differentiate among alleles that are defined by a single-nucleotide differences.
Vladimir Kanazin +3 more
openaire +4 more sources
Haematologica, 2008 The BCR-ABL K247R change is based on a rare single nucleotide polymorphism occurring likewise in healthy controls and non-hematologic cell types. Despite its juxtaposition to the P-loop, functional analysis showed no alteration compared to non-mutated ...
Thomas Ernst +7 more
doaj +1 more source
Frontiers in Cellular and Infection Microbiology, 2022 BackgroundTuberculosis (TB) and AIDS are the leading causes of infectious diseases death worldwide. Here, we investigated the relationship between from single nucleotide polymorphisms (SNPs) of the NLRP3, CARD8, AIM2, CASP-1, IFI16, and IL-1β ...
Nathalia Beatriz Ramos de Sá +12 more
doaj +1 more source
Association of Single Nucleotide Polymorphisms in the PYGO2 and PRDM9 Genes with Idiopathic Azoospermia in Iranian Infertile Male Patients [PDF]
Iranian Journal of Medical Sciences, 2023 Background: Azoospermia is a risk factor for infertility affecting approximately 1% of the male population. Genetic factors are associated with non-obstructive azoospermia (NOA). Pygo2 and PRDM9 genes are involved in the spermatogenesis process.
Sanaz Soleymani Moud +3 more
doaj +1 more source
Simultaneous profiling of transcriptome and DNA methylome from a single cell. [PDF]
, 2016 BackgroundSingle-cell transcriptome and single-cell methylome technologies have become powerful tools to study RNA and DNA methylation profiles of single cells at a genome-wide scale. A major challenge has been to understand the direct correlation of DNA
An, Qin +9 more
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A new and versatile method for the successful conversion of AFLP-TM markers into simple single locus markers [PDF]
, 2003 Genetic markers can efficiently be obtained by using amplified fragment length polymorphism (AFLP) fingerprinting because no prior information on DNA sequence is required.
Brugmans, B.W. +4 more
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Recent and Ancient Signature of Balancing Selection around the S-Locus in Arabidopsis halleri and A. lyrata [PDF]
, 2012 Balancing selection can maintain different alleles over long evolutionary times. Beyond this direct effect on the molecular targets of selection, balancing selection is also expected to increase neutral polymorphism in linked genome regions, in inverse ...
Castric, Vincent +5 more
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Single nucleotide polymorphisms and periodontitis
Dentistry and Medical Research, 2014 The susceptibility to various diseases is studied with association to genetic polymorphisms. Among these polymorphisms, single-nucleotide polymorphisms (SNPs) are very common throughout the genome. The recent advances in genetic assay techniques and increase in SNP databases are paving a way for investigation of susceptibility genes for periodontitis ...
Khaled Awidat +5 more
openaire +3 more sources
Functional single nucleotide polymorphism-based association studies
Human Genomics, 2006 Association studies hold great promise for the elucidation of the genetic basis of diseases. Studies based on functional single nucleotide polymorphisms (SNPs) or on linkage disequilibrium (LD) represent two main types of designs.
Carlton Victoria EH +3 more
doaj +1 more source
A case-control study of rheumatoid arthritis identifies an associated single nucleotide polymorphism in the NCF4 gene, supporting a role for the NADPH-oxidase complex in autoimmunity [PDF]
, 2007 Rheumatoid arthritis (RA) is a chronic inflammatory disease with a heritability of 60%. Genetic contributions to RA are made by multiple genes, but only a few gene associations have yet been confirmed.
Alfredsson, L +8 more
core +2 more sources