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Humans Have How Many Autosomes

Whatsoever chromosome other than a sex chromosome

An autosome is any chromosome that is not a sexual activity chromosome.[1] The members of an autosome pair in a diploid jail cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may take different structures. The Deoxyribonucleic acid in autosomes is collectively known as atDNA or auDNA.[2]

For example, humans have a diploid genome that ordinarily contains 22 pairs of autosomes and one allosome pair (46 chromosomes full). The autosome pairs are labeled with numbers (one–22 in humans) roughly in gild of their sizes in base pairs, while allosomes are labelled with their letters.[3] Past contrast, the allosome pair consists of two Ten chromosomes in females or ane X and one Y chromosome in males. Unusual combinations of XYY, XXY, Thirty, XXXX, XXXXX or XXYY, amidst other Salome combinations,[ clarification needed ] are known to occur and normally cause developmental abnormalities.

Autosomes all the same incorporate sexual determination genes even though they are non sex activity chromosomes. For instance, the SRY gene on the Y chromosome encodes the transcription factor TDF and is vital for male person sex activity decision during evolution. TDF functions by activating the SOX9 gene on chromosome 17, so mutations of the SOX9 gene tin cause humans with an ordinary Y chromosome to develop every bit females.[4]

All human autosomes have been identified and mapped by extracting the chromosomes from a cell arrested in metaphase or prometaphase and then staining them with a type of dye (most commonly, Giemsa).[5] These chromosomes are typically viewed as karyograms for piece of cake comparison. Clinical geneticists can compare the karyogram of an individual to a reference karyogram to find the cytogenetic ground of certain phenotypes. For instance, the karyogram of someone with Patau Syndrome would show that they possess three copies of chromosome 13. Karyograms and staining techniques tin can simply find large-scale disruptions to chromosomes—chromosomal aberrations smaller than a few meg base of operations pairs generally cannot be seen on a karyogram.[6]

Karyotype of human chromosomes
Female (XX) Male person (XY)

PLoSBiol3.5.Fig7ChromosomesAluFish.jpg

Human male karyotype.gif

At that place are 2 copies of each autosome (chromosomes 1–22) in both females and males. The sex activity chromosomes are different: There are 2 copies of the X-chromosome in females, just males accept a single 10-chromosome and a Y-chromosome.

Autosomal genetic disorders [edit]

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 almost common being nondisjunction in parental germ cells or Mendelian inheritance of deleterious alleles from parents. Autosomal genetic disorders which exhibit Mendelian inheritance tin can be inherited either in an autosomal dominant or recessive fashion.[7] These disorders manifest in and are passed on by either sex with equal frequency.[7] [viii] Autosomal dominant disorders are ofttimes present in both parent and child, as the child needs to inherit merely one re-create of the deleterious allele to manifest the illness. Autosomal recessive diseases, however, require two copies of the deleterious allele for the disease to manifest. Because information technology is possible to possess one copy of a deleterious allele without presenting a disease phenotype, two phenotypically normal parents can have a child with the illness if both parents are carriers (besides known as heterozygotes) for the status.

Autosomal aneuploidy can also result in disease conditions. Aneuploidy of autosomes is not well tolerated and usually results in miscarriage of the developing fetus. Fetuses with aneuploidy of gene-rich chromosomes—such as chromosome i—never survive to term,[9] and fetuses with aneuploidy of cistron-poor chromosomes—such as chromosome 21— are yet miscarried over 23% of the time.[10] Possessing a unmarried copy of an autosome (known as a monosomy) is nearly ever incompatible with life, though very rarely some monosomies tin can survive past birth. Having three copies of an autosome (known as a trisomy) is far more compatible with life, however. A mutual example is Downward syndrome, which is caused by possessing three copies of chromosome 21 instead of the usual two.[ix]

Partial aneuploidy tin also occur equally a result of unbalanced translocations during meiosis.[11] Deletions of part of a chromosome cause partial monosomies, while duplications can cause fractional trisomies. If the duplication or deletion is large plenty, information technology tin 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 [edit]

  • Aneuploidy (aberrant number of chromosomes)
  • Autosomal dominant
  • Autosomal recessive
  • Homologous chromosome
  • Pseudoautosomal region
  • XY sex-determination system
  • Genetic disorder

References [edit]

  1. ^ Griffiths, Anthony J. F. (1999). An Introduction to genetic analysis. New York: W.H. Freeman. ISBN978-0-7167-3771-i.
  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 ii Jan 2016. Retrieved 28 April 2018.
  4. ^ Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanović M, Weissenbach J, Mansour S, Young ID, Goodfellow PN (December 1994). "Complicate dysplasia and autosomal sexual activity reversal caused by mutations in an SRY-related gene". Nature. 372 (6506): 525–30. Bibcode:1994Natur.372..525F. doi:10.1038/372525a0. PMID 7990924. S2CID 1472426.
  5. ^ "Chromosome mapping Facts, information, pictures". encyclopedia.com. Encyclopedia.com articles about Chromosome mapping. Archived from the original on x December 2015. Retrieved iv Dec 2015.
  6. ^ Nussbaum RL, McInnes RR, Willard HF, Hamosh A, Thompson MW (2007). Thompson & Thompson Genetics in Medicine (7th ed.). Philadelphia, PA: Saunders/Elsevier. p. 69. ISBN9781416030805.
  7. ^ a b "human being genetic affliction". 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 Pedagogy. 1 (i): 63.
  9. ^ a b Wang, Jin-Chen C. (2005-01-01). "Autosomal Aneuploidy". In Gersen, Steven L.; MEd, Martha B. Keagle (eds.). The Principles of Clinical Cytogenetics. Humana Press. pp. 133–164. doi:10.1385/one-59259-833-ane:133. ISBN978-1-58829-300-8.
  10. ^ Savva, George M.; Morris, Joan Thou.; Mutton, David East.; Alberman, Eva (June 2006). "Maternal age-specific fetal loss rates in Down's syndrome pregnancies". Prenatal Diagnosis. 26 (6): 499–504. doi:10.1002/pd.1443. PMID 16634111. S2CID 34154717.
  11. ^ "Translocation - Glossary Entry". Genetics Domicile Reference. 2015-11-02. Archived from the original on 2015-12-09. Retrieved 2015-11-08 .
  12. ^ Strefford, Jonathan C.; An, Qian; Harrison, Christine J. (31 October 2014). "Modeling the molecular consequences of unbalanced translocations in cancer: Lessons from acute lymphoblastic leukemia". Cell Cycle. 8 (14): 2175–2184. doi:10.4161/cc.8.14.9103. PMID 19556891.
  13. ^ Klar, Amar J S (2002). "The chromosome 1;xi translocation provides the best show supporting genetic etiology for schizophrenia and bipolar melancholia disorders". Genetics. 160 (four): 1745–1747. doi:10.1093/genetics/160.iv.1745. PMC1462039. PMID 11973326.
  14. ^ Disteche, Christine M. (xv December 2012). "Dosage Compensation of the Sexual practice Chromosomes". Annual Review of Genetics. 46 (1): 537–560. doi:ten.1146/annurev-genet-110711-155454. PMC3767307. PMID 22974302.

Humans Have How Many Autosomes,

Source: https://en.wikipedia.org/wiki/Autosome

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