Sheffield V C, Weber J L, Buetow K H, Murray J C, Even D A, Wiles K, Gastier J M, Pulido J C, Yandava C, Sunden S L
Cooperative Human Linkage Center (CHLC), University of Iowa, Iowa City 52242, USA.
Hum Mol Genet. 1995 Oct;4(10):1837-44. doi: 10.1093/hmg/4.10.1837.
We report a collection of tri- and tetranucleotide repeat sequence polymorphic markers used to construct genome-wide human linkage maps. Using a strategy of marker selection to create libraries highly enriched for the presence of specific tandem repeat elements, we have developed over 2000 high heterozygosity, easy-to-use tri- and tetranucleotide short tandem repeat polymorphisms (STRPs). To date, over 1300 of these markers have been genotyped on the CEPH reference families. Additional STRPs were assigned to chromosomes using human monochromosomal somatic cell hybrids. The linkage maps constructed with these markers have been integrated with other CEPH genotypes into a comprehensive high density linkage map. These STRPs have been shown to be robust for genotyping in a variety of laboratories using a variety of methods. The high quality of these STRPs makes them ideal candidates for use in genome-wide linkage searches. The integration of these markers with physical mapping reagents and other genetic markers will create a resource for moving from genome-wide linkage searches to rapid sublocalization of disease loci.
我们报告了一系列用于构建全基因组人类连锁图谱的三核苷酸和四核苷酸重复序列多态性标记。通过标记选择策略创建高度富集特定串联重复元件的文库,我们开发了2000多个高杂合性、易于使用的三核苷酸和四核苷酸短串联重复多态性(STRP)。迄今为止,这些标记中的1300多个已在CEPH参考家系中进行了基因分型。使用人类单染色体体细胞杂种将其他STRP定位到染色体上。用这些标记构建的连锁图谱已与其他CEPH基因型整合到一个全面的高密度连锁图谱中。这些STRP已被证明在各种实验室中使用各种方法进行基因分型时都很可靠。这些STRP的高质量使其成为全基因组连锁搜索的理想候选者。将这些标记与物理作图试剂和其他遗传标记整合,将为从全基因组连锁搜索转向疾病基因座的快速亚定位创造资源。