Y chromosome microdeletion
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2008-06-23T21:55:51Z
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'''Y chromosome microdeletion''' ''(YCM)'' is a family of [[genetic disorder]]s caused by missing gene(s) in the [[Y chromosome]]. Many men with YCM exhibit no symptoms and lead normal lives. However, YCM is also known to be present in a significant number of men with reduced [[fertility]]. Men with reduced sperm production (in up to 20% of men with reduced [[sperm count]], some form of YCM has been detected<ref>{{cite journal| url=http://humrep.oxfordjournals.org/cgi/content/full/15/7/1431| journal=Human Reproduction| volume=15| issue= 7| pages= 1431–1434| month= July| year= 2000| title=Prognostic value of Y deletion analysis| first=Csilla| last=Krausz| coauthors=Lluis Quintana-Murci and Ken McElreavey| doi=10.1093/humrep/15.7.1431| pmid=10875846}}</ref>) varies from [[oligozoospermia]], significant lack of sperm, or [[azoospermia]], complete lack of sperm.
Various genes shown to have some correlation with [[spermatogenesis]] in men with reduced fertility include<ref>{{cite journal| url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9644848&dopt=Abstract| journal=Acta Med Port| year=1998| month= Apr| volume=11| issue=4| pages=365–72| title=Y chromosome and male infertility| language=Portuguese| last=Goncalves| first= J| coauthors=Lavinha J.| pmid=: 9644848}}</ref> [[RBM]], [[DAZ]], [[SPGY]], and [[TSPY]].
==Cause==
The mechanism of [[mutation]] is not different for Y-chromosome microdeletion. However, the ability to repair it differs from other chromosomes. The human Y chromosome is passed directly from father to son, and is not protected against accumulating copying errors, whereas other chromosomes are error corrected by recombining genetic information from mother and father. This may leave [[natural selection]] as the primary repair mechanism for the Y chromosome.
==Diagnosis==
Y chromosome microdeletion is currently diagnosed by extracting DNA from [[leukocytes]] in a man's blood sample, mixing it with some of the about 300 known [[genetic marker]]s for [[sequence-tagged site]]s (STS) on the Y chromosome, and then using [[polymerase chain reaction]] amplification and [[gel electrophoresis]] in order to test whether the DNA sequence corresponding to the selected markers is present in the DNA.
Such procedures can test only the integrity of a tiny part of the overall 23 million [[base pair]] long Y chromosome, therefore the sensitivity of such tests depends on the choice and number of markers used. Present diagnostic techniques can only discover certain types of deletions and mutations on a chromosome and give therefore no complete picture of genetic causes of infertility. They can only demonstrate the presence of some defects, but not the absence of any possible genetic defect on the chromosome.
The gold standard test for genetic mutation, namely complete [[DNA sequencing]] of a patient's Y chromosome, is still far too expensive for use in epidemiologic research or even clinical diagnostics.
==Infertility==
Microdeletions in the Y chromosome have been found at a much higher rate in [[infertile]] men than in fertile controls and the correlation found may still go up as improved genetic testing techniques for the Y chromosome are developed.
==References==
<references/>
*Carlo Foresta, et al.: [http://edrv.endojournals.org/cgi/content/full/22/2/226 Y chromosome microdeletions and alterations of spermatogenesis]. Endocrine Reviews 22 (2): 226-239.
==External links==
* [http://cas.bellarmine.edu/tietjen/Ecology/y_chromosome_as_a_battle_ground_.htm Bellarmine College - The Y chromosome as a battle ground for sexual selection]
==See also==
*[[Infertility]]
*[[AZF1]]
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[[Category:Diseases]]
[[Category:Andrology]]