Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects

Table 3 Genomic characteristics of deletion breakpoints in the LDLR gene

Deletion	Deletion size, bp	5' breakpoint	3' breakpoint	Repetitive element 5'	Repetitive element 3'
Promoter – exon1	9325	11054981	11064306	Alu Y	Alu Sq
Exon5	1042	11077854	11078895	Alu Sx	Alu Jo
Exon7 – 8	3012	11081462	11084473	Alu Sg/x	Alu Sg/x
Exon9 – 14	9713	11084618	11094330	Alu Sq	Alu Sq
Exon 13 – 15	6298	11090883	11097180	Alu Sg/X	Alu Sg/x

Breakpoint locations are based on the May 2004 assembly extracted from the Human Genome Browser [13]

ISSN: 1471-2350