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Abstract
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.
