Deletion (genetics)

Jump to: navigation, search

WikiDoc Resources for Deletion (genetics)

Articles

Most recent articles on Deletion (genetics)

Most cited articles on Deletion (genetics)

Review articles on Deletion (genetics)

Articles on Deletion (genetics) in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Deletion (genetics)

Images of Deletion (genetics)

Photos of Deletion (genetics)

Podcasts & MP3s on Deletion (genetics)

Videos on Deletion (genetics)

Evidence Based Medicine

Cochrane Collaboration on Deletion (genetics)

Bandolier on Deletion (genetics)

TRIP on Deletion (genetics)

Clinical Trials

Ongoing Trials on Deletion (genetics) at Clinical Trials.gov

Trial results on Deletion (genetics)

Clinical Trials on Deletion (genetics) at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Deletion (genetics)

NICE Guidance on Deletion (genetics)

NHS PRODIGY Guidance

FDA on Deletion (genetics)

CDC on Deletion (genetics)

Books

Books on Deletion (genetics)

News

Deletion (genetics) in the news

Be alerted to news on Deletion (genetics)

News trends on Deletion (genetics)

Commentary

Blogs on Deletion (genetics)

Definitions

Definitions of Deletion (genetics)

Patient Resources / Community

Patient resources on Deletion (genetics)

Discussion groups on Deletion (genetics)

Patient Handouts on Deletion (genetics)

Directions to Hospitals Treating Deletion (genetics)

Risk calculators and risk factors for Deletion (genetics)

Healthcare Provider Resources

Symptoms of Deletion (genetics)

Causes & Risk Factors for Deletion (genetics)

Diagnostic studies for Deletion (genetics)

Treatment of Deletion (genetics)

Continuing Medical Education (CME)

CME Programs on Deletion (genetics)

International

Deletion (genetics) en Espanol

Deletion (genetics) en Francais

Business

Deletion (genetics) in the Marketplace

Patents on Deletion (genetics)

Experimental / Informatics

List of terms related to Deletion (genetics)

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Deletion on a chromosome

In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) 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.

Causes

Causes include the following:

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 - a deletion that occurs from the interior of a chromosome.

Effects

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.

Deletion of a number of base 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.

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 a syndrome called Cri du chat,[1] also known as "cry of the cat" syndrome. It is found in approximately 1 in 50,000 live births. The surviving infants have a distinctive cry, severe mental retardation, and shortened life span. Deletion mutations are also responsible for the cat family's inability to taste sweetness.

See also

References

  1. 1.0 1.1 1.2 Lewis R. 2005. Human Genetics: Concepts and Applications, 6th Ed. McGraw Hill, New York.

ca:Deleció de:Deletion lt:delecija sr:Делеција ur:حذف (وراثیات)



Linked-in.jpg