Sequence-Based Linkage Analysis

Sep. 20, 2004
Jay-chang Chen

Abstract

With the rapid development of DNA sequencing, we could apply that for other usages. In this paper, the authors propose resequcing a lot of short contiguous segments of genomic DNAsequencing blocksSBs】) to simultaneous discover markers and get genotype polymorphisms in each linkage studies. In spite of the frequency of all sequence polymorphisms in the SBs, they would be used as genetic markers.

The Author use computer simulations to test the method. They created pedigree data with population theory and observed human sequence diversity first. After the simulation, they found that SBs of 500-1000 bp, spaced at intervals of 1-2 Mb across the genome, provide more information than traditional approaches.

For validation of the result, they apply the approach for chromosome 19 in CEPH pedigrees.

 

From:  American Journal of Human Genetics (2004) 75:647-653

 

References

*1. Itay Furman, Mark J. Rieder, Suzanne da Ponte, Dana P. Carrington, Deborah A. Nickerson, Leonid Kruglyak, and Kyriacos Markianos. (2004) Sequenced-Based Linkage Analysis. Am. J. Hum. Genet. 75: 647-653.

 

2. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 58 :1347–1363