Figure 2
The detection of the exonic deletion and allelic loss of the NF2 gene by MLPA analysis. (A) Three probes located in other regions on 22q 12.2 were included as positive controls to identify a loss of heterozygosity (LOH). Eleven reference probes were included to detect different autosomal chromosomal regions. In the graph, the y-coordinate represented the Dosage Quotient (DQ) and 0.4 < DQ < 0.7 was considered to have a heterozygous deletion. No exonic deletions were found in the blood of sporadic cases. (B) In NF2-related VSs, a deletion of exon 1 was seen in the lymphocytes. (C) Somatic allelic loss as the second genetic event was demonstrated in matched tumours, in conjunction with LOH. (D) Somatic deletion of a single exon (the first hit) followed by the allelic loss of the NF2 gene were also observed in one case of sporadic VSs.
