先天性胫骨假关节染色体核型的初步研究

Chromosomal karyotype analysis of patients with congenital pseudarthrosis of the tibia

目的研究先天性胫骨假关节(congenitalpseudarthrosisofthetibia,CPT)患者染色体变异情况及其与神经纤维瘤病(neurofibromatosis,NF)之间的关系。方法研究自1982～1999年治疗的28例CPT患者中有随访记录的10例。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(phytahematoagglutinin,PHA)及体积分数为10%小牛血清的1640培养液中,37℃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,未见缺失及多倍体,均为46XY或46XX型。结论NF不是CPT的病因,它们在基因定位方面可能存在某种联系。

Objective To investigate the variation of the chromosomal karyotype of patients with congenital pseudarthrosis of the tibia(CPT) and its relation with the neurofibromatosis. Methods Ten patients with complete follow up records in 28 cases of CPT treated between 1982 and 1999 were included in this study. There were 7 males and 3 females. The age of the patients at the surgery ranged 4 to 17 years. Seven patients had skin café-au-lait spots. Peripheral venous blood (1-2 ml) of 10 patients was cultured in 1640 culture medium with 10%(v/v) fetal calf serum and phytahematoagglutinin(PHA) for 70-72 hours, and then colchicines was added (10 μg/ml) in culture medium 4 hours before finishing the culture. The specimens were harvested and the chromosomal karyotype was analysed. Results The karyotype of the chromosomes were normal(46XY or 46XX) in all of the speciments, there were no chromosome aberration, chromosome loss and polyploid. Conclusion Neurofibromatosis has no relation with CPT, the genic location of the CPT may have some relation with the neurofibromatosis.