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.
机构:
Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, ScotlandUniv Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
Charchar, FJ
;
Tomaszewski, M
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机构:Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
Tomaszewski, M
;
Lacka, B
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机构:Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
Lacka, B
;
Zakrzewski, J
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机构:Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
Zakrzewski, J
;
Zukowska-Szczechowska, E
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机构:Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
Zukowska-Szczechowska, E
;
Grzeszczak, W
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机构:Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
Grzeszczak, W
;
Dominiczak, AF
论文数: 0引用数: 0
h-index: 0
机构:Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
机构:
Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, ScotlandUniv Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
Charchar, FJ
;
Tomaszewski, M
论文数: 0引用数: 0
h-index: 0
机构:Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
Tomaszewski, M
;
Lacka, B
论文数: 0引用数: 0
h-index: 0
机构:Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
Lacka, B
;
Zakrzewski, J
论文数: 0引用数: 0
h-index: 0
机构:Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
Zakrzewski, J
;
Zukowska-Szczechowska, E
论文数: 0引用数: 0
h-index: 0
机构:Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
Zukowska-Szczechowska, E
;
Grzeszczak, W
论文数: 0引用数: 0
h-index: 0
机构:Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland
Grzeszczak, W
;
Dominiczak, AF
论文数: 0引用数: 0
h-index: 0
机构:Univ Glasgow, Western Infirm, Div Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow G11 6NT, Lanark, Scotland