先天性胫骨假关节患者染色体核型的初步分析

目的先天性胫骨假关节(congenitalpseudarthrosisoftibia,CPT)病因尚不清楚,通过细胞培养及染色体核型研究的方法了解先天性胫骨假关节患者染色体核型的情况,探讨其与神经纤维瘤病(neurofibromatosis,NF)之间的相关性。方法患者来自西京医院骨科1982-1999年手术治疗的28例CPT患者中有随访记录的患者10例。所有患者均经病理学及临床检查确诊。男7例,女3例;左侧5例,右侧4例,双侧1例;年龄4-17岁,平均11.5岁。7例患者躯干上有奶油咖啡斑。取患者的外周抗凝血1-2ml,无菌条件下加入含有植物凝血素(phytahematoagglutininPHA)及体积分数为100ml/L小牛血清的1640培养液中,37°C恒温箱内培养70-72h,于终止培养前4h加入秋水仙素(10μg/ml)继续培养直至收获,制片,行染色体核型分析。结果10例CPT患者的淋巴细胞培养均获得可分析标本。所有患者染色体核型均正常,未见染色体核型缺失及多倍体,均为46XY或46XX型。结论NF不是CPT的病因,他们在基因定位方面可能存在某种联系。

Chromosomal karyotype analysis of congenital pseudarthrosis of tibia

Aim To investigate the variation of the Chromosomal karyotype of congenital pseudarthrosis of the tibia( CPT) and probe into the relation of the CPT with the neurofibromatosis . Methods Ten follow- up patients (7 males and 3 females ,age between 4- 17 years) from 28 CPT patients treated in Xijing Hospital from 1982 to1999 were studied. Seven follow- up patients had skin café- au- lait spots. Peripheral venous blood (1- 2 ml) of 10 follow- up patients was cultured in 1640 culture medium with 100 ml/L fetal calf serum and phytahematoagglutinin(PHA) for 70- 72 hours, and then added colchicines (10 μ g/ml) in culture medium before 4 hours of stopping culture and continued culturing them to harvesting. The chromosomal karyotype of 10 CPT patients were analysed finally. Results All 10 CPT patients specimen after cell culture were analyzable .The karyotype of their chromosomes were normal (46XY or 46XX), no chromosome aberration, chromosome loss and polyploid. Conclusion Neurofibromatosis is not the etiology of the CPT ,the genic location of the CPT maybe have some relation with the genic location of the neurofibromatosis.