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目的本文对遗传性多发性外生骨疣(hereditary multiple exostoses,简称EXT或HME)一大家系的家系调查、染色体、致病基因的定位以及中西医结合治疗研究进行了回顾总结。方法作者历时15年对一个HME大家系完成了家系调查,绘制了家系谱,对部分成员外周血淋巴细胞常规培养染色体核型G显带分析、致病基因的定位与测序分析,并对部分患者给予中西药物和手术治疗。结果共调查该家族7代1179人,具有亲缘关系成员646人,发现患者44人,37.32‰,男29人,女15人,男女之比1.933∶1。8例患者染色体G显带核型均正常,40例成员致病基因测序分析后发现,有13例家系成员含有骨疣致病基因EXT2的突变。应用四环素、糖皮质激素、六味地黄丸治疗21例,有效率达80.95%,手术治疗12例,一次治愈无复发。结论对该HME家系研究已取得一定成果,针对基因异常的药物开发和积极优生学措施有待进一步研究。
Aims This study reviewed the pedigree investigation, chromosomal and pathogenic gene mapping, and integrated traditional Chinese and western medicine in a pedigree of hereditary multiple exostoses (EXT or HME). Methods The authors completed a pedigree survey of a HME pedigree over a 15-year period. Pedigrees were drawn. Chromosomal G-banding analysis, pathogenicity gene sequencing and sequencing of routinely cultured peripheral blood lymphocytes of some members were performed. Some patients Give Chinese and Western medicine and surgery. Results A total of 1179 people of this family were surveyed for 7 generations, with 646 relatives and found 44 patients, 37.32 ‰, 29 men and 15 women. The ratio of men to women was 1.933: 1.8. Normal, 40 members of the pathogenic gene sequencing analysis found that 13 cases of family members containing mutations in the verruca vermutase gene EXT2. Application of tetracycline, glucocorticoid, Liu Wei Di Huang Wan treatment of 21 cases, the effective rate of 80.95%, 12 cases of surgery, a cure without recurrence. Conclusion Some achievements have been made in the study of this HME pedigree. The development of drugs and active eugenics for gene abnormalities need further study.