X-linked recessive inheritance: Difference between revisions

Revision as of 10:41, 22 June 2020

Revision as of 10:34, 31 August 2020

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== Push Back on Recessive/Dominant Terminology ==

A few scholars have suggested discontinuing the use of the terms ''dominant'' and ''recessive'' when referring to [[X-linked inheritance]].<ref name=":0">{{cite journal|last1=Dobyns|first1=William B.|last2=Filauro|first2=Allison|last3=Tomson|first3=Brett N.|last4=Chan|first4=April S.|last5=Ho|first5=Allen W.|last6=Ting|first6=Nicholas T.|last7=Oosterwijk|first7=Jan C.|last8=Ober|first8=Carole|year=2004|title=Inheritance of most X-linked traits is not dominant or recessive, just X-linked|journal=American Journal of Medical Genetics|volume=129A|issue=2|pages=136136–43|doi=10.1002/ajmg.a.30123|pmid=15316978}}</ref> The possession of two X chromosomes in females leads to dosage issues which are alleviated by [[X-inactivation]].<ref>{{Cite journal|lastlast1=Shvetsova|firstfirst1=Ekaterina|last2=Sofronova|first2=Alina|last3=Monajemi|first3=Ramin|last4=Gagalova|first4=Kristina|last5=Draisma|first5=Harmen H. M.|last6=White|first6=Stefan J.|last7=Santen|first7=Gijs W. E.|last8=Chuva de Sousa Lopes|first8=Susana M.|last9=Heijmans|first9=Bastiaan T.|last10=van Meurs|first10=Joyce|last11=Jansen|first11=Rick|date=March 2019|title=Skewed X-inactivation is common in the general female population|url=https://www.nature.com/articles/s41431-018-0291-3|journal=European Journal of Human Genetics|language=en|volume=27|issue=3|pages=455–465|doi=10.1038/s41431-018-0291-3|pmid=30552425|pmc=6460563|issn=1476-5438|doi-access=free}}</ref> Stating that the highly variable [[penetrance]] of X-linked traits in females as a result of mechanisms such as skewed X-inactivation or [[somatic mosaicism]] is difficult to reconcile with standard definitions of dominance and recessiveness, scholars have suggested referring to traits on the x chromosome simply as ''X-Linked.''<ref name=":0" />

==Examples==

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*[[Red–green color blindness]], a very common trait in humans and frequently used to explain X-linked disorders.<ref>{{cite web|url=https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303800|title=OMIM Color Blindness, Deutan Series; CBD|website=nih.gov|accessdate=3 May 2018|url-status=live|archiveurl=https://web.archive.org/web/20090929025156/http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303800|archivedate=29 September 2009}}</ref> Between seven and ten percent of men and 0.49% to 1% of women are affected. Its commonness may be explained by its relatively benign nature. It is also known as daltonism.

*[[Hemophilia A]], a [[coagulation|blood clotting]] disorder caused by a [[mutation]] of the [[Factor VIII]] [[gene]] and leading to a deficiency of Factor VIII. It was once thought to be the "royal disease" found in the descendants of Queen Victoria. This is now known to have been Hemophilia B (see below).<ref>{{cite web|author= Michael Price|title= Case Closed: Famous Royals Suffered From Hemophilia|url= http://news.sciencemag.org/biology/2009/10/case-closed-famous-royals-suffered-hemophilia|work= ScienceNOW Daily News|publisher= AAAS|date= 8 October 2009|accessdate= 9 October 2009|url-status= live|archiveurl= https://web.archive.org/web/20131020190735/http://news.sciencemag.org/biology/2009/10/case-closed-famous-royals-suffered-hemophilia|archivedate= 20 October 2013}}</ref><ref>{{cite journal |last1=Rogaev |first1=Evgeny I. |last2=Grigorenko |first2=Anastasia P. |last3=Faskhutdinova |first3=Gulnaz |last4=Kittler |first4=Ellen L. W. |last5=Moliaka |first5=Yuri K. |year=2009 |title=Genotype Analysis Identifies the Cause of the 'Royal Disease' |journal=Science |volume=326 |issue=5954 |pages=817 |bibcode=2009Sci...326..817R |doi=10.1126/science.1180660 |pmid=19815722|s2cid=206522975 }}</ref>

*[[Hemophilia B]], also known as Christmas disease,<ref>[http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=181&contentid=46&rptname=bleeding "Hemophilia B".] {{webarchive|url=https://web.archive.org/web/20071201092338/http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=181&contentid=46&rptname=bleeding |date=2007-12-01 }} National Hemophilia Foundation.</ref> a [[coagulation|blood clotting]] disorder caused by a [[mutation]] of the [[Factor IX]] [[gene]] and leading to a deficiency of Factor IX. It is rarer than [[hemophilia A]]. As noted above, it was [[Haemophilia in European royalty|common]] among the descendants of Queen Victoria.

*[[Duchenne muscular dystrophy]], which is associated with mutations in the [[dystrophin]] gene. It is characterized by rapid progression of muscle degeneration, eventually leading to loss of skeletal muscle control, respiratory failure, and death.