Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR
Figure 2
(a) Haplotype analysis of microsatellites markers from chromosome 7q21.1. The haplotype shared by the affected individuals (black-filled symbol) is “boxed”. In the affected patients, the symbol (*) indicates the indefinite alleles, located in the deletion. Since the hemizygosity for the non shared alleles in the affected patients, the analysis, shows “homozygosity” for three markers (D7S2409, D7S1813, D7S1789), thus, the deleted alleles are indicated with the same symbol (*). (b) Measurements of copy number status ( standard error mean) of genes mapping in the 7q21 chromosomal region determined by RT-QPCR. On the Top: the genomic organization of genes. Genes are shown above the horizontal axis, which also indicates the extension and orientation of each gene. Results from normal genomic DNA (2 normal controls mean), from the unaffected member of family (I : 1 sample), and in one affected members (II : 1) are visualized by a closed triangle (▲), a closed quare (■), and a closed circle (●), respectively. The genes between the two vertical gray dotted lines show a hemizigous deletion detectable by the copy number loss of the associated amplicons.
