Y chromosome polymorphisms in medicine

Ann Med. 2004;36(8):573-83. doi: 10.1080/07853890410018853.


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.

Publication types

  • Review

MeSH terms

  • Autistic Disorder / genetics
  • Chromosome Deletion
  • Chromosomes, Human, Y / genetics*
  • Genetic Loci
  • Genetic Variation
  • Humans
  • Hypertension / genetics
  • Male
  • Oligospermia / genetics
  • Polymorphism, Genetic*
  • Recombination, Genetic / genetics
  • Seminal Plasma Proteins / genetics


  • Seminal Plasma Proteins