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Mendelian traits in humans

March 11, 2023

Mendelian traits in humans are human traits that are substantially influenced by Mendelian inheritance. Most — if not all — Mendelian traits are also influenced by other genes, the environment, immune responses, and chance. Therefore no trait is purely Mendelian, but many traits are almost entirely Mendelian, including canonical examples, such as those listed below. Purely Mendelian traits are a minority of all traits, since most phenotypic traits exhibit incomplete dominance, codominance, and contributions from many genes. If a trait is genetically influenced, but is not well characterized by Mendelian inheritance, it is often labeled as non-Mendelian.[citation needed]

Autosomal dominant
A 50/50 chance of inheritance.
Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition.[1]
If one parent has sickle-cell anaemia and the other has sickle-cell trait, then the child has a 50% chance of having sickle-cell disease and a 50% chance of having sickle-cell trait.[1]
An example of the codominant inheritance of some of the four blood groups.

Examples


References

  1. ^ a b . Sickle Cell Society. 13 July 2014. Archived from the original on 2018-03-27. Retrieved 2015-12-29.
  2. ^ a b c d e f g h i j k l m n o p q r s Klug WS, Cummings MR, Spencer CA, Palladino MA (2012). Essentials of Genetics. Pearson. ISBN 978-0-321-80311-5.
  3. ^ Sowińska-Seidler A, Socha M, Jamsheer A (February 2014). "Split-hand/foot malformation - molecular cause and implications in genetic counseling". Journal of Applied Genetics. 55 (1): 105–115. doi:10.1007/s13353-013-0178-5. PMC 3909621. PMID 24163146.
  4. ^ Hollfelder N, Babiker H, Granehäll L, Schlebusch CM, Jakobsson M (April 2020). "The genetic variation of lactase persistence alleles in northeast Africa". bioRxiv 10.1101/2020.04.23.057356.
  5. ^ McDonald JH (16 September 2013). "Earwax". Myths of Human Genetics. Baltimore: Sparky House Publishing.

Further reading

  • Mange EJ, Mange AR (1999). Basic Human Genetics (second ed.). Sunderland (MA): Sinauer. ISBN 978-0-87893-497-3.
  • Simpson SA (November 1999). "Basic Human Genetics". Heredity (Review) (2nd ed.). 83 (5): 635. doi:10.1038/sj.hdy.6886484.
  • Speicher MR, Antonarakis SE, Motulsky AG, eds. (2010). Vogel and Motulsky's Human Genetics: Problems and Approaches. Heidelberg: Springer Scientific. doi:10.1007/978-3-540-37654-5. ISBN 978-3-540-37653-8. S2CID 89318627.

External links

  • OMIM Online Mendelian Inheritance in Man
  • Myths of Human Genetics

March 11, 2023
mendelian, traits, humans, human, traits, that, substantially, influenced, mendelian, inheritance, most, mendelian, traits, also, influenced, other, genes, environment, immune, responses, chance, therefore, trait, purely, mendelian, many, traits, almost, entir. Mendelian traits in humans are human traits that are substantially influenced by Mendelian inheritance Most if not all Mendelian traits are also influenced by other genes the environment immune responses and chance Therefore no trait is purely Mendelian but many traits are almost entirely Mendelian including canonical examples such as those listed below Purely Mendelian traits are a minority of all traits since most phenotypic traits exhibit incomplete dominance codominance and contributions from many genes If a trait is genetically influenced but is not well characterized by Mendelian inheritance it is often labeled as non Mendelian citation needed Autosomal dominant A 50 50 chance of inheritance Sickle cell disease is inherited in the autosomal recessive pattern When both parents have sickle cell trait carrier a child has a 25 chance of sickle cell disease red icon 25 do not carry any sickle cell alleles blue icon and 50 have the heterozygous carrier condition 1 If one parent has sickle cell anaemia and the other has sickle cell trait then the child has a 50 chance of having sickle cell disease and a 50 chance of having sickle cell trait 1 An example of the codominant inheritance of some of the four blood groups Contents 1 Examples 2 References 3 Further reading 4 External linksExamples EditAlbinism recessive 2 53 Achondroplasia 2 53 Alkaptonuria 2 53 263 Ataxia telangiectasia 2 53 Brachydactyly shortness of fingers and toes 2 53 Colour blindness 2 53 monochromatism dichromatism anomalous trichromatism tritanopia deuteranopia protanopia Cystic fibrosis 2 53 Duchenne muscular dystrophy 2 53 Ectrodactyly 3 Ehlers Danlos syndrome 2 53 Fabry disease citation needed Galactosemia 2 53 Gaucher s disease citation needed Haemophilia 2 53 Hereditary breast ovarian cancer syndrome citation needed Hereditary nonpolyposis colorectal cancer citation needed HFE hereditary haemochromatosis Huntington s disease 2 53 Hypercholesterolemia 2 53 Krabbe disease citation needed Lactase persistence dominant 4 Leber s hereditary optic neuropathy citation needed Lesch Nyhan syndrome 2 53 Marfan syndrome 2 53 Niemann Pick disease citation needed Phenylketonuria 2 53 Porphyria 2 53 Retinoblastoma citation needed Sickle cell disease 2 53 Sanfilippo syndrome citation needed Tay Sachs disease 2 53 Wet dominant or dry recessive earwax dry is found mostly in Asians and Native Americans 5 References Edit a b Inheritance of Sickle Cell Anaemia Sickle Cell Society 13 July 2014 Archived from the original on 2018 03 27 Retrieved 2015 12 29 a b c d e f g h i j k l m n o p q r s Klug WS Cummings MR Spencer CA Palladino MA 2012 Essentials of Genetics Pearson ISBN 978 0 321 80311 5 Sowinska Seidler A Socha M Jamsheer A February 2014 Split hand foot malformation molecular cause and implications in genetic counseling Journal of Applied Genetics 55 1 105 115 doi 10 1007 s13353 013 0178 5 PMC 3909621 PMID 24163146 Hollfelder N Babiker H Granehall L Schlebusch CM Jakobsson M April 2020 The genetic variation of lactase persistence alleles in northeast Africa bioRxiv 10 1101 2020 04 23 057356 McDonald JH 16 September 2013 Earwax Myths of Human Genetics Baltimore Sparky House Publishing Further reading EditMange EJ Mange AR 1999 Basic Human Genetics second ed Sunderland MA Sinauer ISBN 978 0 87893 497 3 Simpson SA November 1999 Basic Human Genetics Heredity Review 2nd ed 83 5 635 doi 10 1038 sj hdy 6886484 Speicher MR Antonarakis SE Motulsky AG eds 2010 Vogel and Motulsky s Human Genetics Problems and Approaches Heidelberg Springer Scientific doi 10 1007 978 3 540 37654 5 ISBN 978 3 540 37653 8 S2CID 89318627 External links EditOMIM Online Mendelian Inheritance in Man Myths of Human Genetics Retrieved from https en wikipedia org w index php title Mendelian traits in humans amp oldid 1135731216, wikipedia, wiki, book, books, library,

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