Sala C, Arrigo G, Torri G, Martinazzi F, Riva P, Larizza L, Philippe C, Jonveaux P, Sloan F, Labella T, Toniolo D
DIBIT-HSR, Milan, Italy.
Genomics. 1997 Feb 15;40(1):123-31. doi: 10.1006/geno.1996.4542.
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.
11个与卵巢早衰（POF）相关的平衡X-常染色体易位被定位到一个跨越Xq21大部分区域的酵母人工染色体（YAC）重叠群上，该重叠群构建于DXS223和DXS1171位点之间。该重叠群对应于一个约15兆碱基（Mb）的基因组区域，并包含整个X-Y同源区域。与POF相关的最近端和最远端断点相距15 Mb。其余断点位于这个大区域内，在X特异性区域和X-Y同源区域。4个YAC在相同或相邻的序列标签位点（STS）区间内含有两个断点。我们的结果证实了细胞学发现，并表明Xq21中至少有8个不同的基因可能参与卵巢发育。这些位点的中断可能是POF的原因。
