Pandit S D, Wang J C, Veile R A, Mishra S K, Warlick C A, Donis-Keller H
Department of Surgery, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Genomics. 1995 Oct 10;29(3):653-64. doi: 10.1006/geno.1995.9953.
Three sets of linkage maps (index, comprehensive microsatellite, and unified) have been constructed for human chromosome 14 based on genotypes from the CEPH reference pedigrees. The index maps consist of 18 microsatellite markers, with heterozygosities of at least 68% and intermarker spacing no greater than 11 cM. The sex-average comprehensive microsatellite map is 125 cM in length and includes 115 markers with 54 loci uniquely placed with odds for marker order of at least 1000:1. The sex-average index map length is 121 cM, and the female- and male-specific maps are 143 and 101 cM, respectively. A unified map was also constructed from 147 loci (162 marker systems), which includes 32 RFLP markers in addition to the 115 microsatellites. The sex-average length of the unified map is 128 cM with 69 loci uniquely placed. Our maps are anchored by a microsatellite telomere marker sCAW1 (D14S826), developed from a telomere YAC clone TYAC196, which extends the linkage map to the physical terminus of the long arm of chromosome 14. Furthermore, we have also physically mapped seven of the loci by fluorescence in situ hybridization of cosmid clones or Alu-PCR products amplified from YACs containing the marker sequences. Together with previously established cytogenetic map designations for other loci, our maps display links between genetic markers for 10 of 13 cytogenetic bands of chromosome 14 at the 550 genome band resolution.
基于CEPH参考家系的基因型,已构建了三套人类14号染色体的连锁图谱(索引图谱、综合微卫星图谱和统一图谱)。索引图谱由18个微卫星标记组成,杂合度至少为68%,标记间间距不大于11厘摩。性别平均综合微卫星图谱长度为125厘摩,包含115个标记,其中54个位点的放置具有唯一性,标记顺序的优势比至少为1000:1。性别平均索引图谱长度为121厘摩,女性特异性图谱和男性特异性图谱分别为143厘摩和101厘摩。还从147个位点(162个标记系统)构建了统一图谱,除了115个微卫星外,还包括32个RFLP标记。统一图谱的性别平均长度为128厘摩,有69个位点的放置具有唯一性。我们的图谱由一个微卫星端粒标记sCAW1(D14S826)锚定,该标记由端粒YAC克隆TYAC196开发而来,它将连锁图谱扩展到了14号染色体长臂的物理末端。此外,我们还通过对黏粒克隆或从包含标记序列的YAC中扩增的Alu-PCR产物进行荧光原位杂交,对其中7个位点进行了物理定位。结合先前为其他位点建立的细胞遗传学图谱命名,我们的图谱在550基因组带分辨率下展示了14号染色体13个细胞遗传学带中10个带的遗传标记之间的联系。