Figure 4.
Examples of test group results. Multiplex-PCR assay focusing the analysis of the mutational hotspot of FMR1 CGG alleles (blue label), AFF2 CCG alleles (green label) and of the ARX ex2p (380 bp green fragment). Profiles: (a)AFF2 premutation male (68 CCGs); (b) and (c) male samples where the karyotype revealed the presence of an extra X-chromosome (47, XXY). Additionally in (c) an FMR1 full mutation was subsequently identified by Southern blotting. Profiles: (d) Heterozygous ARX exon 2 deletion female; (e) and (f): FMR1 premutation alleles, male (58 CGGs) and female [(CGG)47/(CGG)61]. Both FMR1(d) and AFF2(f) alleles differing in size by a single triplet can be easily distinguished.