【摘要】 采用高分辨染色体带型技术及DNA印迹法技术对无脉络膜症家系进行了染色体水平和分子水平的研究,结果表明该家系成员染色体无可辩的改变;而DNA印迹法中,探针7b与两患者的DNA无杂交信号,提示患者X染色体上DXYS2X位点缺失。根据实验结果还对Xq21区的8个DNA标记探针进行了亚区定位。更多还原

【Abstract】 This paper presents a choroideremia pedigree first reported in China. No cytogenetically detectable deletion was found in this pedigree by high-resolution banding analysis; Southern blot analysis revealed that probe 7b failed to detect homologous sequences in the DNA of two patients of the pedigree, These suggested a deletion of DXYS₂X loci in the patients, X chromosome. The study also refined the physical map of three DNA loci which were previously mapped in Xq₂₁.更多还原