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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。
Human X chromosome short arm 11.3 ~ 21.3 area is containing retinitis pigmentosa and other genetic disease gene loci. We constructed YAC contigs and large-scale physical mapping of this important section of medical biology. YAC screening was performed using YAC colony in situ hybridization and PCR using probes known in the region (OTC, 2bA3, DMDcDNA); a partial YAC from French CEPH and British ICRF was also used, resulting in a total of 77 years Positive YAC. The length of the YAC was measured. 26 pairs of microsatellite STS pattern analysis, single copy probe hybridization, Alu-PCR fingerprinting analysis and rare-point enzyme large-scale physical mapping analysis. Based on the above information, these YACs were sequenced and six YAC contigs were obtained in the Xp11.3 ~ 21.3 region, covering a total of about 15.3 Mb. The construction of these YAC contigs lays the foundation for carrying out Positionalcloning and DNA sequence determination of disease genes in this area.