Archiver > GENEALOGY-DNA > 2005-03 > 1111240361

Subject: PubMed abstract: Y chromosome polymorphisms in medicine
Date: Sat, 19 Mar 2005 08:52:41 EST

This article is going on my ToDo list.


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

Y chromosome polymorphisms in medicine.

Krausz C, Quintana-Murci L, Forti G.

Department of Clinical Physiopathology, University of Florence, Florence,

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.

PMID: 15768829 [PubMed - in process]


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