Genetic polymorphism studies in humans

Ismail, Somaia; Essawi, Mona

doi:10.1097/01.mxe.0000415225.85003.47

Cited by 50 publications

(49 citation statements)

References 33 publications

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“…Two major sources: (1) mutations that may result as chance processes or have been induced by external agents such as radiation and (2) recombination. Once formed, it can be inherited, allowing its inheritance to be tracked from parent to child [3].…”

Section: Polymorphisms At Dna Levelmentioning

confidence: 99%

“…SNPs may occur within gene sequences or in intergenic sequences. SNPs mostly are located in noncoding regions of the genome and have mostly no direct known impact on the phenotype of an individual but their role till now remains elusive, and depending on where SNPs occurs, it might have different consequences at the phenotypic level [3].…”

Section: Single Nucleotide Polymorphismsmentioning

confidence: 99%

“…Tandem repeats are organized in a head-to-tail orientation; based on the size of each repeat unit, satellite repeats can be further divided into macrosatellites, minisatellites, and microsatellites [17]. Some of these repeats are described as follows: macrosatellites, with sequence repeats longer than 100 bp, are the largest of the tandem DNA repeats, located on one or multiple chromosomes [11], minisatellites, stretches of DNA, are characterized by moderate length patterns, 10-100 bp usually less than 50 bp [9,18], and microsatellites also known as short tandem repeats (STRs) repeat units of less than 10 bp, [3].…”

Section: Polymorphic Repetitive Sequencesmentioning

confidence: 99%

“…Single nucleotide polymorphisms within protein-coding regions either synonymous polymorphisms; those that do not have any effect on the organism and are said to be selectively silent as the substitution causes no amino acid change in the protein produced (silent mutation) or nonsynonymous substitution results in change in encoded amino acids either missense mutation; change the protein through codon alteration or nonsense mutation results in a chain termination codon [3].…”

Section: Single Nucleotide Polymorphismsmentioning

confidence: 99%

“…Single nucleotide polymorphisms are the most common type of genetic variations in humans [3], due to their abundance across the human genome; single nucleotide polymorphisms (SNPs) have become important genetic markers for mapping human diseases, population genetics, and evolutionary studies. SNPs have become very important since technologies for DNA sequencing have become feasible and widely available.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

DNA Polymorphisms: DNA-Based Molecular Markers and Their Application in Medicine

Teama¹

2018

Genetic Diversity and Disease Susceptibility

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DNA polymorphisms are the different DNA sequences among individuals, groups, or populations. Polymorphism at the DNA level includes a wide range of variations from single base pair change, many base pairs, and repeated sequences. Genomic variability can be present in many forms, including single nucleotide polymorphisms (SNPs), variable number of tandem repeats (VNTRs, e.g., mini-and microsatellites), transposable elements (e.g., Alu repeats), structural alterations, and copy number variations. Different forms of DNA polymorphisms can be tracked using a variety of techniques; some of these techniques include restriction fragment length polymorphisms (RFLPs) with Southern blots, polymerase chain reactions (PCRs), hybridization techniques using DNA microarray chips, and genome sequencing. During the last years, the recent advance of molecular technologies revealed new discoveries of DNA polymorphisms. DNA polymorphisms are endless, and more discoveries continue at a rapid rate. Mapping the human genome requires a set of genetic markers. DNA polymorphism serves as a genetic marker for its own location in the chromosome; thus, they are convenient for analysis and are often used as in molecular genetic studies.

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Section: Polymorphisms At Dna Levelmentioning

confidence: 99%

Section: Single Nucleotide Polymorphismsmentioning

confidence: 99%