Y chromosome polymorphisms in medicine

被引:45
作者
Krausz, C
Quintana-Murci, L
Forti, G
机构
[1] Univ Florence, Dept Clin Physiopathol, Androl Unit, I-50139 Florence, Italy
[2] Inst Pasteur, CNRS, URA1961, Paris, France
[3] Inst Pasteur, Unit Mol Prevent & Therapy Human Dis, Paris, France
关键词
medicine; polymorphisms; reproductive medicine; spermatogenesis; Y chromosome; Y haplogroups;
D O I
10.1080/07853890410018853
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 haplo-groups 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.
引用
收藏
页码:573 / 583
页数:11
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