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Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring

Title
Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring
Type
Article in International Scientific Journal
Year
2005
Authors
Pereira, L
(Author)
Other
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Goncalves, J
(Author)
Other
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Rocha, T
(Author)
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Amorim, A
(Author)
FCUP
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Journal
Vol. 28
Pages: 241-247
ISSN: 0105-6263
Publisher: Blackwell
Scientific classification
FOS: Medical and Health sciences > Clinical medicine
Other information
Authenticus ID: P-000-23V
Abstract (EN): A mitochondrial DNA (mtDNA) haplogroup association study carried out in 101 southern Portuguese males with oligozoospermia showed to be negative when comparing with a geographically matching control sample. Misleading positive association signs were however obtained when using other control samples from the same country. This shows that mtDNA population substructure can also introduce spurious signs in haplogroup association studies, as previously reported for Y-chromosome. However, our data do not exclude the probability that a particular mtDNA mutation contributes significantly to the reduction of sperm production, but indeed precludes the hypothesis of a significant association between such a mutation and specific haplogroup.
Language: English
Type (Professor's evaluation): Scientific
Contact: lpereira@ipatimup.pt
No. of pages: 7
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