Eleven balanced X-autosome translocations associated with premature ovarian failure (POF) were mapped to a YAC contig spanning most of Xq21 and constructed between the DXS223 and DXS1171 loci. The contig corresponds to a genomic region of about 15 Mb and contains the whole X-Y homologous region. The most proximal and most distal breakpoints associated with POF were mapped 15 Mb apart. The remaining breakpoints were localized along this large region, in the X-specific and in the X-Y homologous region. Four of the YACs contained two breakpoints in the same or in flanking STS intervals. Our results confirm the cytological findings and suggest that a minimum number of eight different genes in Xq21 may be involved with ovary development. Interruption of such loci could be the cause of POF.
|Titolo:||Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21|
|Parole Chiave:||X Chromosome; Carrier Proteins; Primary Ovarian Insufficiency; Humans; In Situ Hybridization, Fluorescence; Chromosome Mapping; Female; Chromosomes, Artificial, Yeast; Chromosome Breakage|
|Settore Scientifico Disciplinare:||Settore MED/03 - Genetica Medica|
Settore BIO/13 - Biologia Applicata
|Data di pubblicazione:||15-feb-1997|
|Digital Object Identifier (DOI):||10.1006/geno.1996.4542|
|Appare nelle tipologie:||01 - Articolo su periodico|