WordNet

the act of deleting something written or printed
the omission that is made when an editorial change shortens a written passage; "an editors deletions frequently upset young authors"; "both parties agreed on the excision of the proposed clause" (同)excision, cut
(genetics) the loss or absence of one or more nucleotides from a chromosome
(genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism (同)genetic mutation, chromosomal_mutation
a change or alteration in form or qualities

PrepTutorEJDIC

削除;〈C〉削除箇所
変化,俸転 / (生物の)突然変異;その変種

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/09/28 23:09:12」(JST)

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Deletion on a chromosome

In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome.^[1] Deletions can be caused by errors in chromosomal crossover during meiosis. This causes several serious genetic diseases. Deletion also causes frameshift.

Causes

Causes include the following:

Losses from translocation
Chromosomal crossovers within a chromosomal inversion
Unequal crossing over
Breaking without rejoining

For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop.

Types

Types of deletion include the following:

'Terminal Deletion' - a deletion that occurs towards the end of a chromosome.
Intercalary Deletion / Interstitial Deletion - a deletion that occurs from the interior of a chromosome.

Microdeletion - a relatively small amount of deletion (up to 5Mb that could include a dozen genes).

Microdeletion is usually found in children with physical abnormalities. A large amount of deletion would result in immediate abortion (miscarriage).

Effects

It could affect eye sight, smell, skin tone or loss of weight.

Small deletions are less likely to be fatal; large deletions are usually fatal - there are always variations based on which genes are lost. Some medium-sized deletions lead to recognizable human disorders, e.g. Williams syndrome.

Deletion of a number of pairs that is not evenly divisible by three will lead to a frameshift mutation, causing all of the codons occurring after the deletion to be read incorrectly during translation, producing a severely altered and potentially nonfunctional protein. In contrast, a deletion that is evenly divisible by three is called an in-frame deletion.^[2]

Deletions are responsible for an array of genetic disorders, including some cases of male infertility and two thirds of cases of Duchenne muscular dystrophy.^[1] Deletion of part of the short arm of chromosome 5 results in Cri du chat syndrome.^[1] Deletions in the SMN-encoding gene cause spinal muscular atrophy, the most common genetic cause of infant death.

Recent work suggests that some deletions of highly conserved sequences (CONDELs) may be responsible for the evolutionary differences present among closely related species. Such deletions in humans are referred to as hCONDELs may be responsible for the anatomical and behavioral differences between humans,chimpanzees and other mammals.^[3]

Detection

The introduction of molecular techniques in conjunction with classical cytogenetic methods has in recent years greatly improved the diagnostic potential for chromosomal abnormalities. In particular, microarray-comparative genomic hybridization (CGH) based on the use of BAC clones promises a sensitive strategy for the detection of DNA copy-number changes on a genome-wide scale. The resolution of detection could as high as >30,000 "bands" and the size of chromosomal deletion detected could as small as 5–20 kb in length.^[4] Other computation methods were selected to discover DNA sequencing deletion errors.^[5] [1]

References

^ ^a ^b ^c Lewis R. 2005. Human Genetics: Concepts and Applications, 6th Ed. McGraw Hill, New York.
^ LSDB - Controlled vocabulary terms at The GEN2PHEN Knowledge Centre. Posted Fri, 08/01/2010.
^ Delete edit
^ Ren, H (May 2005). "BAC-based PCR fragment microarray: high-resolution detection of chromosomal deletion and duplication breakpoints". Human Mutations 25 (5): 476–482. doi:10.1002/humu.20164. PMID 15832308.
^ Shmilovici A. and Ben-Gal I. (2007). Using a VOM Model for Reconstructing Potential Coding Regions in EST Sequences,. Journal of Computational Statistics, vol. 22, no. 1, 49 - 69.

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Rapid detection of exon 2-deleted AIMP2 mutation as a potential biomarker for lung cancer by molecular beacons.

Jo SM, Kim Y, Jeong YS, Hee Oh Y, Park K, Kim HS.SourceDepartment of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea.
Biosensors & bioelectronics.Biosens Bioelectron.2013 Aug 15;46:142-9. doi: 10.1016/j.bios.2013.02.037. Epub 2013 Mar 6.
Exon 2 deletion in aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 (AIMP2) has been suggested to be associated with the progression of various cancers such as lung and ovarian cancers. However, few studies have been conducted regarding detection and relevance of exon 2-delete
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Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics.

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Thyroid hormone receptors and cancer.

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BACKGROUND: Thyroid hormone receptors (TRs) are ligand-dependent transcription factors that mediate the actions of the thyroid hormone (T3) in development, growth, and differentiation. The THRA and THRB genes encode several TR isoforms that express in a tissue- and development-dependent manner. In t
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