glossary-of-specific-terms-words-from-m-to-z

2022-10-05 21:26:22
Glossary of specific terms

Glossary of specific terms. Words from M to Z.

In the previous article (glossary of terms specific to the field of genetics, words from A to L) we have seen some of the more specific terms that are generally used in the field of science, to refer to certain phenomena and processes, as well as conventional signs that are usually called to improve the understanding of readers.

Link to the glossary from A to L: Glossary of specific terms. Words from A to L.

Here, we will present the second part of this glossary, with terms ranging from M to Z.

We hope that the article has been useful to you, since we have observed several times that people tend to read the results, or there are occasions in which one does not fully understand some things that for others are usually easy to understand.

If you need to ask anything, you can leave your comment below this article and we will answer you as soon as possible.

Words of specific terms from M to Z

M

Marker SNP: Variation that exists in the DNA sequence that occurs when a single nucleotide (adenine, thymine, cytosine, or guanine) in the genome sequence is altered, and that particular alteration occurs in at least 1% of the population.

The single nucleotide polymorphism that is used to "mark" a specific haplotype in a region of the genome. These marker SNPs make up a subset of all SNPs in the genome and are very useful for testing association of a marker locus with a qualitative or quantitative trait locus because genotypic analysis of all SNPs is avoided.

Mix mapping: It is a method used to identify genetic variants related to traits or diseases in ethnic groups with genomes formed by a recent mixture of two or more ancestral populations settled in different geographical areas.

Microsatellite: Repetitive segments of DNA scattered throughout the genome in noncoding regions interspersed between genes or within genes (introns). They are often used as markers for linkage analysis because they occur with high natural variability in repeated amounts between individuals. These regions are inherently genetically unstable and susceptible to mutation.

MLPA: A laboratory method commonly used for the detection of abnormal copy number changes (insertions or deletions) of genomic sequences. Also called ligation-dependent multiplex probe amplification.

Mosaicism: Simultaneous presence of two or more cell lines with different genetic or chromosomal makeup in a single individual or tissue.

Multiple gene test: Genetic tests that are used to simultaneously analyze multiple genes through next-generation sequencing.

Multiple genomic test: Method for simultaneously detecting multiple genetic alterations (for example, genes or single nucleotide polymorphisms in a gene or in the entire genome).

Mutation: A change in the usual DNA sequence at a particular gene locus. Although the term often has a negative connotation, mutations (including polymorphisms) can have a detrimental, beneficial, or neutral effect on cell function.

N

NGS: A high-throughput method used to determine a portion of the nucleotide sequence of an individual's genome. For this method, DNA sequencing techniques are used that allow multiple DNA sequences to be processed in parallel.

Non-carrier: Person who is not a carrier of a previously identified mutation in their family.

Nucleotide: Molecule made up of a nitrogenous base (adenine, guanine, thymine, or cytosine in DNA; adenine, guanine, uracil, or cytosine in RNA), a phosphate group, and a sugar (deoxyribose in DNA; ribose in RNA). DNA and RNA are polymers made up of many nucleotides strung together like beads on a necklace.

Novel variant: Defined genetic alteration, recently discovered; it is not the same as a new or de novo variant or mutation.

PCR: Procedure to produce millions of copies of a short segment of DNA by repeating cycles with the following steps:

denaturation,
hybridization or annealing,
elongation.

PCR is a very common procedure in molecular genetic analysis and is used to generate enough DNA to perform a given test (for example, amplification of a specific allele or quantification of trinucleotide repeats).

Performance: Amount of information, people or material that undergoes a process during a specific period. In medicine, it is used to describe the efficiency of laboratory procedures, such as genetic sequencing, or the number of patients seen in an office during a specific period of time.

Polymorphism: Common variant in a specific DNA sequence. Typically the term "common" is defined by an allele frequency of at least 1% in the general population.

PRS: Assessment of the risk of a specific condition taking into account the collective influence of many genetic variants. These include variants associated with genes with known functions and variants not known to be associated with genes relevant to the condition.

Predictive value of a negative result: The probability that a person with a negative test result is actually unaffected or does not have the mutation of the gene under study.

Predictive value of a positive result: The probability that a person with a positive test result truly has the gene or disease under study.

Pseudogene: A DNA sequence similar to a gene but mutated to an inactive form during the course of evolution. It often lacks introns and other DNA sequences essential for its function. Although genetically the pseudogenes are similar to the original functional gene, the pseudogenes do not produce functional proteins, although some have regulatory effects.

Polygenic risk score: Assessment of the risk of a specific condition taking into account the collective influence of many genetic variants. These include variants associated with genes with known functions and variants not known to be associated with genes relevant to the condition.

Sanger sequencing: Low throughput method used to determine a portion of the nucleotide sequence of an individual's genome. This method uses polymerase chain reaction (PCR) amplification of the genetic regions of interest followed by sequencing of the PCR products.

Sensitivity: How often a test produces true positive results in people who do have the disease or genetic variant under study. A test with high sensitivity has a low false-negative rate and is therefore effective in identifying affected individuals or carriers of a genetic variant.

Single nucleotide variant: DNA sequence variation that occurs when a single nucleotide (adenine, thymine, cytokine, or guanine) in the genome sequence is altered. The single nucleotide variant may be rare or frequent within a population. The term single nucleotide polymorphisms is sometimes used when single nucleotide variants occur in at least 1% of the population.

Somatic variant: An alteration in DNA that occurs after conception and is not found in the germ line. Somatic variants occur in any cell of the body except germ cells (sperm and ova) and therefore are not passed on to offspring. Sometimes somatic variants cause cancer or other diseases.

Splice site variant: Genetic alteration in the DNA sequence that occurs at the boundary between an exon and an intron (splice site). This change can alter RNA splicing leading to loss of exons or inclusion of introns that alter the protein coding sequence. Also called splice site mutation.

Sum of log-odds score: Sum of all positive LODs in a family tree (statistical estimates of the probability that two genetic loci are inherited together due to physical proximity to each other) at each point in the genome.

Surveillance: In medicine, the ongoing observation of a person who is at increased risk of developing a disease or who has a disease that appears clinically stable or is not progressing. Surveillance is also used to find early signs of disease recurrence. In the field of public health, surveillance also refers to the constant and systematic collection, as well as the analysis, of information on the incidence, prevalence, morbidity, survival and mortality of a disease, or an event that has to do with health.

Telomere: End of a chromosome. Telomeres are made up of repetitive non-coding DNA sequences that protect the chromosome. Telomeres are cut every time the cell divides.

Transcription: A type of chromosomal abnormality in which a part of a chromosome breaks off and changes location.

Translocation: Synthesis process of messenger RNA (mRNA) from DNA.

Trisomy: Presence of an extra chromosome in some or all cells of the body, resulting in a total of 3 copies of a chromosome instead of the normal 2 copies. For example, Down syndrome (trisomy 21) is caused by the presence of 3 copies of chromosome 21 instead of the usual 2 copies.

Variant: Alteration in the most common sequence of DNA nucleotides. The term variant is used to describe a condition that may be benign, pathogenic, or of uncertain impact. This term is increasingly used in place of the term mutation. Also called sequence variation, genetic variation, sequence variant, and genetic variant.

Variant with founder effect: Genetic alteration that is detected with a high frequency in a group with geographic or cultural isolation (present or past) that descends from one or more ancestors carrying the altered gene.

WXS: Laboratory process for determining the nucleotide sequence of the exonic (protein-coding) regions of a genome and related sequences. This represents about 1% of the complete DNA sequence.

Conclusion

This has been the glossary of terms that we have developed and brought to you. If you notice that not all the letters exist, it is simply because there are no terms associated with those words. In any case, later on, we will make updates about the terms that may have been missing, since the research that we must carry out takes time, and we do not always find updated terms to date.

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Comments

Jack

2022-09-26 21:23:23

I did it from Bermudas! very good service from this company! Thanks!

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