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作 者:缪为民[1] 魏勇[1] 邓炜[1] 周炜[1] 李恒俊 柴建华[1] 谈家桢[1]
机构地区:[1]复旦大学遗传学研究所
出 处:《Acta Genetica Sinica》1997年第2期99-108,共10页
基 金:国家"863"项目;自然科学基金
摘 要:人类X染色体短臂11.3~21.3区是含有视网膜色素变性等数种遗传病基因位点的区域。我们对这个具有重要医学生物学意义的区段进行了YAC重叠群构建及大尺度物理作图。用这一区域已知的探针(OTC、2bA3、DMDcDNA),以YAC菌落原位杂交法及PCR法进行了YAC的筛选;也采用了法国CEPH和英国ICRF的部分YAC,总共得到了77年阳性YAC。对上述YAC进行了长度测定。26对微卫星STS图谱分析,单拷贝探针的杂交定位,Alu-PCR指纹图谱分析和稀切点酶大尺度物理图谱分析。综合上述信息,对这些YAC进行了排序,在Xp11.3~21.3区得到了6个YAC重叠群,总共覆盖了约15.3Mb的范围。这些YAC重叠群的构建为开展该区域疾病基因的定位克隆(Positionalcloning)及DNA顺序测定奠定了基础。uman X chromosome short arm Xp113~p213 is an area,where several genetic disease gene loci are located.In this work,the YAC contig construction,long range physical mapping were done for this region.Some DNA probes and STS markers were used for YAC screening.Totally 77 YACs were obtained form the YAC libraries of CEPH,ICRF and ours.The size determination,26 pairs of microsatelite STS analysis,single copy probe hybridization,Alu-PCR finger printing and long range physical mapping were conducted with these YACs.These results allowed us to map these YACs,and finally 6 YAC contigs were obtained in Xp113~213,covering about 153 Mb.This work will greatly facilitate the positional cloning of disrase genes or the genome sequencing in this important region.
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