摘要
作者采用从人类X染色体DXS164位点分离的DNA片段pERT87-1作探针,应用染色体原位杂交技术对2例DMD患者进行分析,结果表明:一例DMD患者的X染色体不能与PERT87-1探针杂交,为PERT87-1片段缺失者。进一步对患者的基因组DNA进行限制酶酶谱分析,证明其相应的DNA部份缺失,与染色体原位杂交结果一致。
With the pERT87-1(DXS164) as probe, two patients with Duchnne muscular dystrophy(DMD) were analysed by using chromosome in situ hybridization. The result showed that the X chromosome of one of the patients was not hybridized with the pERT87-1 probe, which was confirmed by restriction endonuclease analysis of the DNA of this patient, indicating a DNA fragment deletion in the locus DXS 164 of the patient.
出处
《遗传与疾病》
CSCD
北大核心
1990年第3期152-154,190+195,共3页
关键词
肌营养不良症
X染色体
染色体杂交
Duchennc muscular dyst rophy (DMD) X chromosome Chromo some in situ hybridization
