TY  - JOUR
A1  - Twells, Rebecca C.J.
A1  - Mein, Charles A.
A1  - Phillips, Michael S.
A1  - Hess, J. Fred
A1  - Veijola, Riitta
A1  - Gilbey, Matthew
A1  - Bright, Matthew
A1  - Metzker, Michael
A1  - Lie, Benedicte A.
A1  - Kingsnorth, Amanda
A1  - Gregory, Edward
A1  - Nakagawa, Yusuke
A1  - Snook, Hywel
A1  - Wang, William Y.S.
A1  - Masters, Jennifer
A1  - Johnson, Gillian
A1  - Eaves, Iain
A1  - Howson, Joanna M.M.
A1  - Clayton, David
A1  - Cordell, Heather J.
A1  - Nutland, Sarah
A1  - Rance, Helen
A1  - Carr, Philippa
A1  - Todd, John A.
T1  - Haplotype Structure, LD Blocks, and Uneven Recombination Within the LRP5 Gene
Y1  - 2003/05/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 845 
EP  - 855 
DO  - 10.1101/gr.563703 
VL  - 13 
IS  - 5 
UR  - http://genome.cshlp.org/content/13/5/845.abstract 
N2  - Patterns of linkage disequilibrium (LD) in the human genome are beginning to be characterized, with a paucity of haplotype diversity in “LD blocks,” interspersed by apparent “hot spots” of recombination. Previously, we cloned and physically characterized thelow-density lipoprotein-receptor-related protein 5(LRP5) gene. Here, we have extensively analysed bothLRP5 and its flanking three genes, spanning 269 kb, for single nucleotide polymorphisms (SNPs), and we present a comprehensive SNP map comprising 95 polymorphisms. Analysis revealed high levels of recombination across LRP5, including a hot-spot region from intron 1 to intron 7 of LRP5, where there are 109 recombinants/Mb (4882 meioses), in contrast to flanking regions of 14.6 recombinants/Mb. This region of high recombination could be delineated into three to four hot spots, one within a 601-bp interval. ForLRP5, three haplotype blocks were identified, flanked by the hot spots. Each LD block comprised over 80% common haplotypes, concurring with a previous study of 14 genes that showed that common haplotypes account for at least 80% of all haplotypes. The identification of hot spots in between these LD blocks provides additional evidence that LD blocks are separated by areas of higher recombination.[Supplementary material: primers are available from our Web site:http://www-gene.cimr.cam.ac.uk/todd/human_data.shtml.] 
ER  -