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DXYS_(2)X位点缺失。根据实验结果还对X_(q21)区的8个DNA标记探针进行了亚区定位。
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 DXYS_(2)X loci in the patients,X chromosome.The study also refined the physical map of three DNA loci which were previously mapped in X_(q21).
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1992年第5期263-266,T018,共5页
Chinese Journal of Medical Genetics
关键词
无脉络膜症
X染色体
DNA
Choroideremia
X-chromo some DNA
marks Southern hybridization
