强直性肌营养不良患者三核苷酸重复数与性别、病情、亲缘的关系

Correlation of the repeated numbers of trinucleotide in patients with myotonic dystrophy to sex,state of illness and kindred

目的通过研究血及肌肉组织MTPK基因中基因非编码区胞嘧啶-胸腺嘧啶-鸟嘌呤(cytosine,thymine,guanine,CTG)重复数与强直性肌营养不良(myotonicdystrophy,MD)的关系,寻找便于取材且能代表动态突变受累组织,为临床诊断提供依据。方法用长模板扩增TMPCR法,检测5例DM患者和1例临床可疑患者的血及肌肉组织中MTPK基因非编码区上CTG重复次数。结果外周血白细胞MTPK基因中CTG重复数大于或等于肌肉组织MTPK基因中的CTG重复数,同一家族患者的肌肉标本中的CTG重复数相等,与性别、起病年龄及病情无关;血液标本中的CTG重复数与性别、起病年龄及病情轻重有关。结论检测外周血白细胞MTPK基因中CTG三核苷酸重复拷贝数,可辅助DM诊断及流行病学调查,而肌细胞MTPK基因中CTG重复数测定,有助于研究DM患者的亲缘关系。

Aim To observe the correlation between myotonic dystrophy and cytosine-thymine-guanine(CTG)repeat number in blood and muscular tissues and look as the basis of clini cal evidence.Method Five patients with MD and one patients suspected wi th MD were asked to record the number of repeated times of CTG in blo od and muscular tissues using Long Expand TM Template PCR system.Results The CTG repeat number in leukocytes of peripheral blood was more than that in muscular tissues.The CTG repeated numbers of patients of t he same kindred were equal,which were foreign to sex,episode age and s tate of illness.The GTG repeat number in blood samples was related w ith sex,episode age and degree of ill condition.Conclusion The copy number of CTG repetition in p eriph-eral leukocyte is used as assistant d iagnosis for MD and to investigate ep i-demiology.The assay of the CTG repeated number in muscular tissues re-bounds to observing the kinship of MD patients.