Autosome

Source: Wikipedia, the free encyclopedia.
(Redirected from
Autosomal DNA
)
This article is about a type of chromosome. For the ancestral discovery method using autosomal DNA, see Genealogical DNA test § Geographic origin tests.

An autosome is any

allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA.[2]

For example,

XXXXX or XXYY, among other Salome combinations,[clarification needed
] are known to occur and usually cause developmental abnormalities.

Autosomes still contain sexual determination

chromosome 17, so mutations of the SOX9 gene can cause humans with an ordinary Y chromosome to develop as females.[4]

All human autosomes have been identified and mapped by extracting the chromosomes from a cell arrested in

chromosome 13. Karyograms and staining techniques can only detect large-scale disruptions to chromosomes—chromosomal aberrations smaller than a few million base pairs generally cannot be seen on a karyogram.[6]

Karyotype of human chromosomes
Female (XX) Male (XY)
There are two copies of each autosome (chromosomes 1–22) in both females and males. The sex chromosomes are different: There are two copies of the X-chromosome in females, but males have a single X-chromosome and a Y-chromosome.

Autosomal genetic disorders

An illustration of the inheritance pattern and phenotypic effects of an autosomal recessive gene.

Autosomal genetic disorders can arise due to a number of causes, some of the most common being

heterozygotes
) for the condition.

Autosomal

chromosome 21 instead of the usual two.[9]

Partial aneuploidy can also occur as a result of unbalanced translocations during meiosis.[11] Deletions of part of a chromosome cause partial monosomies, while duplications can cause partial trisomies. If the duplication or deletion is large enough, it can be discovered by analyzing a karyogram of the individual. Autosomal translocations can be responsible for a number of diseases, ranging from cancer to schizophrenia.[12][13] Unlike single gene disorders, diseases caused by aneuploidy are the result of improper gene dosage, not nonfunctional gene product.[14]

See also

References

  1. ISBN 978-0-7167-3771-1
    .
  2. ^ "Autosomal DNA - ISOGG Wiki". www.isogg.org. Archived from the original on 21 August 2017. Retrieved 28 April 2018.
  3. ^ "Autosome Definition(s)". Genetics Home Reference. Archived from the original on 2 January 2016. Retrieved 28 April 2018.
  4. S2CID 1472426
    .
  5. ^ "Chromosome mapping Facts, information, pictures". encyclopedia.com. Encyclopedia.com articles about Chromosome mapping. Archived from the original on 10 December 2015. Retrieved 4 December 2015.
  6. ISBN 9781416030805
    .
  7. ^ a b "human genetic disease". Encyclopædia Britannica. Archived from the original on 2015-10-13. Retrieved 2015-10-16.
  8. ^ Chial, Heidi (2008). "Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders". Nature Education. 1 (1): 63.
  9. ^
    ISBN 978-1-58829-300-8
    .
  10. S2CID 34154717
    .
  11. ^ "Translocation - Glossary Entry". Genetics Home Reference. 2015-11-02. Archived from the original on 2015-12-09. Retrieved 2015-11-08.
  12. PMID 19556891
    .
  13. PMID 11973326
    .
  14. PMID 22974302
    .
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