应用荧光原位杂交技术检测卵巢早衰患者X染色体嵌合型

Analysis of X chromosome mosaicism in patients with premature ovarian failure by fluorescent in-situ hybridization

目的 探讨卵巢早衰与低百分率 45 ,X/ 46,XX嵌合核型的关系 ,了解荧光原位杂交(FISH)技术检测染色体嵌合核型的敏感性和特异性。方法 取 18例卵巢早衰患者和 9例正常妇女(对照 )的外周血进行培养 ,行常规G显带和用X染色体记数探针行FISH ,对每例计数 60 0～ 70 0个细胞的荧光信号。结果 18例卵巢早衰患者的常规染色体分析核型为 46,XX。卵巢早衰患者的 45 ,X/46,XX染色体嵌合型比率为 7.6% ,显著高于对照者的 2 .2 % ,两者比较 ,差异有极显著性 (P <0 .0 1)。结论 某些卵巢早衰患者的致病机理可能与 45 ,X/ 46,XX嵌合核型比例增高 ,X染色体数量不足有关。对此类低百分率染色体嵌合核型 。

Objective To investigate whether low level 45, X/46, XX mosaicism presents in women with premature ovarian failure (POF) and the sensitivity and specificity of fluorescent in situ hybridization (FISH) for detecting X chromosome mosaicism. Methods Karyotypes of peripheral lymphocyte in 18 patients with POF and 9 normal controls were analyzed and the orange signals during FISH using X chromosome enumeration probes (CEPX) were counted. Results Single signals of X chromosome (45, X) were found in 7.6% of the total counted cells, which was significantly greater than that in the controls, in spite of the normal 46, XX karyotypes by routine analyses in all POF patients. Conclusions This study indicated that some POF patients may attribute to low level 45, X/46, XX mosaicism. FISH is more sensitive than the routine chromosome analyses in detecting low level X chromosome monosomy.