Simple Mendelian genetics in humans

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Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits (as opposed to continuously varying traits such as height) with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders. Discrete traits found in humans are common examples for teaching genetics.

Mendelian model

According to the model of Mendelian inheritance, alleles may be dominant or recessive, one allele is inherited from each parent, and only those who inherit a recessive allele from each parent exhibit the recessive phenotype. Offspring with either one or two copies of the dominant allele will display the dominant phenotype.

Very few phenotypes are purely Mendelian traits. Common violations of the Mendelian model include

polygenic inheritance, oligogenic inheritance).[1][2]

paternity
.

Human traits with probable or uncertain simple inheritance patterns

Dominant Recessive References
Low heart rate High heart rate [4]
Widow's peak Straight hair line [5][6]
Facial dimples * No facial dimples [7][8]
Ability to taste PTC, "Taster" Unable to taste PTC, "Nontaster" [9]
Unattached (free) earlobe Attached earlobe [7][10][11]
Clockwise hair direction (left to right) Counter-Clockwise hair direction (right to left) [12]
Cleft chin
 Smooth chin [13]
Freckles
 No freckles [7][14]
Wet-type earwax Dry-type earwax [10][15]
Roman nose
 No prominent bridge [16]
Marfan syndrome Average body proportions and connective tissue [17]
Huntington's disease No nerve damage [18]
Normal mucus lining Cystic fibrosis [19]
Photic sneeze reflex No light-induced sneeze reflex [20]
Forged chin Receding chin [16]
White forelock present No white forelock [21]
Ligamentous angustus
Ligamentous Laxity
 [22]
Ability to eat sugar Galactosemia [23]
Total leukonychia and Bart pumphrey syndrome Partial leukonychia [24]
Absence of fish-like body odour Trimethylaminuria [25]
Primary hyperhidrosis
 Little sweating in hands [26]
Lactase persistence Lactose intolerance [27]
Prominent chin (V-shaped) Less prominent chin (U-shaped) [28]
Acne prone
 Clear complexion [29]

See also

References

  1. ISBN 978-05526-5390-9
    .
  2. ISBN 9958-9344-2-6
    . (in Bosnian).
  3. ^ OMIM-http://www.omim.org/
  4. PMID 14523039
    .
  5. ISBN 0-07-366175-9
    .
  6. ^ McKusick, Victor A. (10 February 2009). "Widow's Peak". Online Mendelian Inheritance in Man. Johns Hopkins University. 194000.
  7. ^ a b c "Genetics/Reproduction". ScienceNet - Life Science. Singapore Science Centre. Archived from the original on 2003-09-25.
  8. ^ McKusick, Victor A. (25 June 1994). "Dimples, Facial". Online Mendelian Inheritance in Man. Johns Hopkins University. 126100.
  9. ^ Wooding, Stephen (28 June 2004). "Natural selection at work in genetic variation to taste". Medical News Today. Archived from the original on 2007-12-13.
  10. ^
    PMID 7187238
    .
  11. ^ McKusick, Victor A.; Lopez, A (30 July 2010). "Earlobe Attachment, Attached vs. Unattached". Online Mendelian Inheritance in Man. Johns Hopkins University. 128900.
  12. ^ McDonald, John H. (8 December 2011). "Hair Whorl". Myths of Human Genetics. University of Delaware.
  13. ^ McKusick, Victor A. (23 March 2013). "Cleft Chin". Online Mendelian Inheritance in Man. Johns Hopkins University. 119000.
  14. PMID 15009706
    .
  15. ^ McKusick, Victor A.; O'Neill, Marla J. F. (22 November 2010). "Apocrine Gland Secretion, Variation in". Online Mendelian Inheritance in Man. Johns Hopkins University. 117800.
  16. ^ a b "Mendelian Traits in Humans" (PDF). Human Genetics. San Diego Supercomputer Center (SDSC).
  17. ^ Chen, Harold (2019-11-10). Buehler, Bruce (ed.). "Genetics of Marfan Syndrome". Medscape. WebMD LLC.
  18. ^ Stafford, Kate; Mannor, Michael. "Mutations and Genetic Disease". Genetic Diseases. ThinkQuest. Archived from the original on 2007-01-03.
  19. ^ "Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease". Medical Genetics. Children's Hospital of Pittsburgh. 3 February 2008. Archived from the original on 2009-08-24.
  20. ^ Schrock, Karen (10 January 2008). "Looking at the Sun Can Trigger a Sneeze". Scientific American. Archived from the original on 2011-03-19.
  21. ^ "Inherited Human Traits". EdQuest. Archived from the original on 2012-02-01.
  22. PMID 5173168
    .
  23. ^ Fankhauser, D. B. (2 Feb 2006). "Human Heritable Traits". University of Cincinnati Clermont College. Archived from the original on 2012-02-23.
  24. ^ Tüzün, Yalçın; Karaku, Özge (2009). "Leukonychia" (PDF). Journal of the Turkish Academy of Dermatology. JTAD. Archived from the original (PDF) on 2016-03-03. Retrieved 2015-02-23.
  25. ^ "Learning About Trimethylaminuria". genome.gov. National Human Genome Research Institute.
  26. S2CID 37824317
    .
  27. ^ Bowen, R. (25 April 2009). "Lactose Intolerance (Lactase Non-Persistence)". Colorado State University.
  28. ^ Jablecki, Donna Mae. "Variations on a Human Face" (PDF). Science Experiments on File. Facts on File.
  29. ^ Strickland, Barbara. "Acne is a Four Letter Word". Sage Advice. Barbara Strickland. Archived from the original on 2006-02-07.

External links

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