与5号染色体q3区域的基因座相关的特雷彻·柯林斯综合征基因座的遗传和物理图谱。
Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region.
作者信息
Jabs E W, Li X, Lovett M, Yamaoka L H, Taylor E, Speer M C, Coss C, Cadle R, Hall B, Brown K
机构信息
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21287-3914.
出版信息
Genomics. 1993 Oct;18(1):7-13. doi: 10.1006/geno.1993.1420.
Treacher Collins syndrome is an autosomal dominant, craniofacial developmental disorder, and its locus (TCOF1) has been mapped to chromosome 5q3. To refine the location of the gene within this region, linkage analysis was performed among the TCOF1 locus and 12 loci (IL9, FGFA, GRL, D5S207, D5S210, D5S376, CSF1R, SPARC, D5S119, D5S209, D5S527, FGFR4) in 13 Treacher Collins syndrome families. The highest maximum lod score was obtained between loci TCOF1 and D5S210 (Z = 10.52; theta = 0.02 +/- 0.07). The best order, IL9-GRL-D5S207/D5S210-CSF1R-SPARC-++ +D5S119, and genetic distances among these loci were determined in the 40 CEPH families by multipoint linkage analysis. YAC clones were used to establish the order of loci, centromere-5'GRL3'-D5S207-D5S210-D5S376-CSF1R -SPARC-D5S119-telomere. By combining known physical mapping data with ours, the order of chromosome 5q3 markers is centromere-IL9-FGFA-5'GRL3'-D5S207-D5S210- D5S376-CSF1R-SPARC-D5S119-D5S209- FGFR4-telomere. Based on this order, haplotype analysis suggests that the TCOF1 locus resides distal of CSF1R and proximal to SPARC within a region less than 1 Mb in size.
特雷彻·柯林斯综合征是一种常染色体显性遗传的颅面发育障碍疾病，其基因座（TCOF1）已被定位到5号染色体长臂3区。为了进一步精确该区域内基因的位置，对13个特雷彻·柯林斯综合征家系中的TCOF1基因座和12个基因座（IL9、FGFA、GRL、D5S207、D5S210、D5S376、CSF1R、SPARC、D5S119、D5S209、D5S527、FGFR4）进行了连锁分析。在基因座TCOF1和D5S210之间获得了最高的最大对数优势分数（Z = 10.52；θ = 0.02 ± 0.07）。通过多点连锁分析在40个CEPH家系中确定了最佳顺序，即IL9 - GRL - D5S207/D5S210 - CSF1R - SPARC - ++ +D5S119，以及这些基因座之间的遗传距离。利用酵母人工染色体（YAC）克隆确定了基因座顺序，即着丝粒 - 5'GRL3' - D5S207 - D5S210 - D5S376 - CSF1R - SPARC - D5S119 - 端粒。通过将已知的物理图谱数据与我们的数据相结合，5号染色体长臂3区标记的顺序为着丝粒 - IL9 - FGFA - 5'GRL3' - D5S207 - D5S210 - D5S376 - CSF1R - SPARC - D5S119 - D5S209 - FGFR4 - 端粒。基于此顺序，单倍型分析表明TCOF1基因座位于CSF1R远端且在SPARC近端，位于一个小于1兆碱基的区域内。
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