Portnoï M F, Aboura A, Tachdjian G, Bouchard P, Dewailly D, Bourcigaux N, Frydman R, Reyss Anne-Céline, Brisset Sophie, Christin-Maitre S
Laboratoire de cytogénétique, Hôpital Saint-Antoine, Paris, France.
Hum Reprod. 2006 Sep;21(9):2329-34. doi: 10.1093/humrep/del174. Epub 2006 Jun 3.
Premature ovarian failure (POF) is defined as amenorrhoea for more than 6 months, occurring before the age of 40, with an FSH serum level higher than 40 mIU/ml. Cytogenetically visible rearrangements of the X chromosome are associated with POF. Our hypothesis was that cryptic Xq chromosomal rearrangements could be an important etiological contributor of POF.
Ninety POF women were recruited and compared to 20 control women. Peripheral blood samples were collected and metaphase chromosomes were prepared using standard cytogenetic methods. To detect Xq chromosomal micro-rearrangements, fluorescence in situ hybridization (FISH) analysis was performed using a selection of 30 bacterial artificial chromosome (BAC) and P1 artificial chromosome clones, spanning Xq13-q27. We further localized the translocation breakpoints by FISH with additional BAC clones.
Chromosomal abnormalities were identified in 8.8% of our 90 patients [one triple X, three large Xq deletions 46,X,del(X)(q22.3), 46,X,del(X)(q21.2) and 46,X,del(X)(q21.32), two balanced X;autosome translocations 46,X,t(X;1) (q21.1;q32) and 46,X,t(X;9)(q21.31;q21.2) and two Robertsonian translocations 45,XX,der(15;22)(q10;q10) and 45,XX,der(14;21)(q10;q10)]. The two Xq translocation breakpoints were among a cluster of repetitive elements without any known genes. FISH analysis did not reveal any Xq chromosomal micro-rearrangement.
Karyotyping is definitely helpful in the evaluation of POF patients. No submicroscopic chromosomal rearrangements affecting Xq region were identified. Further analysis using DNA microarrays should help delineate Xq regions involved in POF.
卵巢早衰（POF）定义为40岁之前出现闭经超过6个月，血清促卵泡激素（FSH）水平高于40 mIU/ml。X染色体的细胞遗传学可见重排与POF相关。我们的假设是，隐匿性Xq染色体重排可能是POF的一个重要病因。
招募了90名POF女性，并与20名对照女性进行比较。采集外周血样本，采用标准细胞遗传学方法制备中期染色体。为检测Xq染色微重排，使用一组30个细菌人工染色体（BAC）和P1人工染色体克隆进行荧光原位杂交（FISH）分析，这些克隆覆盖Xq13-q27。我们通过使用额外的BAC克隆进行FISH进一步定位易位断点。
在我们的90名患者中，8.8%发现了染色体异常[1例XXX，3例大的Xq缺失46,X,del(X)(q22.3)、46,X,del(X)(q21.2)和46,X,del(X)(q21.32)，2例平衡的X；常染色体易位46,X,t(X;1)(q21.1;q32)和46,X,t(X;9)(q21.31;q21.2)，以及2例罗伯逊易位45,XX,der(15;22)(q10;q10)和45,XX,der(14;21)(q10;q10)]。两个Xq易位断点位于一组重复元件中，没有任何已知基因。FISH分析未发现任何Xq染色微重排。
核型分析对POF患者的评估肯定有帮助。未发现影响Xq区域的亚微观染色体重排。使用DNA微阵列进行进一步分析应有助于确定POF中涉及的Xq区域。
