BackgroundPrevious studies have compared sperm phenotypes between men with partial  deletions within the AZFc region of the Y chromosome with non-carriers, with variable results. Here, we have investigated a separate question, the basis of the variation in sperm phenotype within gr/gr deletion carriers, which ranges from normozoospermia to azoospermia. Differences in the genes removed by independent gr/gr deletions, the occurrence of subsequent duplications or the presence of linked modifying variants elsewhere on the chromosome have been suggested as possible causal factors. We set out to test these possibilities in a large sample of gr/gr deletion carriers with known phenotypes spanning the complete range.ResultsWe assembled a collection of 169 men diagnosed with gr/gr deletions from six centres in Europe and one in Australia, and characterized the DAZ and CDY1 copies retained, the presence or absence of duplications and the Y-chromosomal haplogroup. Although our study had good power to detect factors that accounted for ≥5.5% of the variation in sperm concentration, no such factor was detected. A negative effect of gr/gr deletions followed by b2/b4 duplication was observed within the normospermic group, which remains to be further explored in a larger study population. Finally, we observed significant geographical differences in the frequency of different subtypes of gr/gr deletions which may have relevance for the interpretation of case control studies dealing with admixed populations.ConclusionsWe conclude that the phenotypic variation of gr/gr carriers in men of European origin is largely independent of the Y-chromosomal background.
|Data di pubblicazione:||2009|
|Titolo:||Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background.|
|Autore/i:||KRAUSZ C; GIACHINI C; XUE Y; OBRYAN MK; GROMOLL J; RAJPERT-DE MEYTS E; OLIVA R; AKNIN-SEIFER I; ERDEI E; JORGENSEN N; M. SIMONI; BALLESCÀ JL; LEVY R; BALERCIA G; PIOMBONI P; NIESCHLAG E; FORTI G; MCLACHLAN R; TYLER-SMITH C|
|Digital Object Identifier (DOI):||10.1136/jmg.2008.059915|
|Codice identificativo ISI:||WOS:000262198000004|
|Codice identificativo Scopus:||2-s2.0-58549105128|
|Codice identificativo Pubmed:||18782837|
|Citazione:||Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background / KRAUSZ C; GIACHINI C; XUE Y; OBRYAN MK; GROMOLL J; RAJPERT-DE MEYTS E; OLIVA R; AKNIN-SEIFER I; ERDEI E; JORGENSEN N; M. SIMONI; BALLESCÀ JL; LEVY R; BALERCIA G; PIOMBONI P; NIESCHLAG E; FORTI G; MCLACHLAN R; TYLER-SMITH C. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - ELETTRONICO. - 46(2009), pp. 21-31.|
|Tipologia||Articolo su rivista|
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