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© Research
Publication : Annals of medicine

Y chromosome polymorphisms in medicine

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Annals of medicine - 01 Jan 2004

Krausz C, Quintana-Murci L, Forti G

Link to Pubmed [PMID] – 15768829

Ann. Med. 2004;36(8):573-83

Ninety-five percent of the length of the human Y chromosome is inherited as a single block in linkage from father to male offspring as a haploid entity. Thus, the Y chromosome represents an invaluable record of all mutations that have occurred along male lineages throughout evolution. For this reason, Y chromosomal DNA variation has been mainly used for investigations on human evolution and for forensic purposes or paternity analysis. Recently, Y chromosomal polymorphisms have been applied in molecular medicine from the perspective of male-specific (spermatogenic failure, testis and prostate cancer) and prevalently male-associated (hypertension, autism) diseases. The absence of recombination on the MSY (male-specific Y) region means that polymorphisms, located in this region, are in tight association with potential functional variations associated with Y-linked phenotypes. Thus, an indirect way to explore if Y chromosome genes are involved in the etiology of a specific disease is the definition of Y chromosome haplogroups in patients versus disease-free and/or the general population. Data on patients with reduced sperm count and prostate cancer indicate that the ‘at risk Y haplogroup’ may be different in different populations. The situation is rather contradictory for other male-specific or male-associated diseases and further multicenter–possibly multiethnic–studies are needed.

http://www.ncbi.nlm.nih.gov/pubmed/15768829