中国临床康复
中國臨床康複
중국림상강복
CHINESE JOURNAL OF CLINICAL REHABILITATION
2003年
17期
2474-2475
,共2页
崔赓%雷伟%李洁%胡蕴玉%杜俊杰%马平%黄耀添%赵黎%吕荣%杨柳%汪培铭
崔賡%雷偉%李潔%鬍蘊玉%杜俊傑%馬平%黃耀添%趙黎%呂榮%楊柳%汪培銘
최갱%뢰위%리길%호온옥%두준걸%마평%황요첨%조려%려영%양류%왕배명
假关节%胫骨%染色体%神经纤维瘤病
假關節%脛骨%染色體%神經纖維瘤病
가관절%경골%염색체%신경섬유류병
pseudarthrosis%tibia%chromosome%neurofibromatosis
目的先天性胫骨假关节 (congenital pseudarthrosis of tibia,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- 2 ml,无菌条件下加入含有植物凝血素 (phytahematoagglutinin PHA)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 - 72 h,于终止培养前 4 h加入秋水仙素( 10 μ g/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.
目的先天性脛骨假關節 (congenital pseudarthrosis of tibia,CPT)病因尚不清楚 ,通過細胞培養及染色體覈型研究的方法瞭解先天性脛骨假關節患者染色體覈型的情況,探討其與神經纖維瘤病( neurofibromatosis ,NF)之間的相關性.方法患者來自西京醫院骨科 1982 - 1999年手術治療的 28例 CPT患者中有隨訪記錄的患者 10例.所有患者均經病理學及臨床檢查確診.男 7例,女 3例;左側 5例,右側 4例,雙側 1例;年齡 4- 17歲,平均 11.5歲.7例患者軀榦上有奶油咖啡斑.取患者的外週抗凝血 1- 2 ml,無菌條件下加入含有植物凝血素 (phytahematoagglutinin PHA)及體積分數為 100ml/L小牛血清的 1640培養液中, 37°C恆溫箱內培養 70 - 72 h,于終止培養前 4 h加入鞦水仙素( 10 μ g/ml)繼續培養直至收穫,製片,行染色體覈型分析.結果 10例 CPT患者的淋巴細胞培養均穫得可分析標本.所有患者染色體覈型均正常,未見染色體覈型缺失及多倍體 ,均為 46XY或 46XX型.結論 NF不是 CPT的病因,他們在基因定位方麵可能存在某種聯繫.
목적선천성경골가관절 (congenital pseudarthrosis of tibia,CPT)병인상불청초 ,통과세포배양급염색체핵형연구적방법료해선천성경골가관절환자염색체핵형적정황,탐토기여신경섬유류병( neurofibromatosis ,NF)지간적상관성.방법환자래자서경의원골과 1982 - 1999년수술치료적 28례 CPT환자중유수방기록적환자 10례.소유환자균경병이학급림상검사학진.남 7례,녀 3례;좌측 5례,우측 4례,쌍측 1례;년령 4- 17세,평균 11.5세.7례환자구간상유내유가배반.취환자적외주항응혈 1- 2 ml,무균조건하가입함유식물응혈소 (phytahematoagglutinin PHA)급체적분수위 100ml/L소우혈청적 1640배양액중, 37°C항온상내배양 70 - 72 h,우종지배양전 4 h가입추수선소( 10 μ g/ml)계속배양직지수획,제편,행염색체핵형분석.결과 10례 CPT환자적림파세포배양균획득가분석표본.소유환자염색체핵형균정상,미견염색체핵형결실급다배체 ,균위 46XY혹 46XX형.결론 NF불시 CPT적병인,타문재기인정위방면가능존재모충련계.
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.
