Kruglyak L
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02139, USA.
Nat Genet. 1997 Sep;17(1):21-4. doi: 10.1038/ng0997-21.
Improvements in genetic mapping techniques have driven recent progress in human genetics. The use of single nucleotide polymorphisms (SNPs) as biallelic genetic markers offers the promise of rapid, highly automated genotyping. As maps of SNPs and the techniques for genotyping them are being developed, it is important to consider what properties such maps must have in order for them to be useful for linkage studies. I examine how polymorphic and densely spaced biallelic markers need to be for extraction of most of the inheritance information from human pedigrees, and compare maps of biallelics with today's genome-scanning sets of microsatellite markers. I conclude that a map of 700-900 moderately polymorphic biallelic markers is equivalent--and a map of 1,500-3,000 superior--to the current 300-400 microsatellite marker sets.
基因定位技术的改进推动了人类遗传学领域的最新进展。使用单核苷酸多态性（SNP）作为双等位基因遗传标记为快速、高度自动化的基因分型带来了希望。随着SNP图谱及其基因分型技术的不断发展，重要的是要考虑这些图谱必须具备哪些特性才能用于连锁研究。我研究了多态性和密集分布的双等位基因标记需要达到何种程度才能从人类家系中提取大部分遗传信息，并将双等位基因图谱与当今的基因组扫描微卫星标记集进行了比较。我得出结论，一张包含700 - 900个中等多态性双等位基因标记的图谱等同于——而一张包含1500 - 3000个标记的图谱优于——当前的300 - 400个微卫星标记集。
