Figure 5

Genetic analysis performed on tumors that have lost HLA class I expression. The different peaks correspond to different sizes from the PCR-amplified products. Peaks corresponding to the normal samples are represented in green whereas tumor samples are represented in blue. A, LOH analysis performed on the RST 41 sample with the polymorphic marker C141. The total loss of a normal allele (on top) illustrates the technical advantage of using flow cytometric sorting to identify LOH events. B, Frameshift mutations identified in different members of the APM machinery. On top a homozygous deletion in the sample RST 65 on the 4^th exon of the Tapasin gene is shown. On the bottom, a heterozygous deletion in the sample RST 18 on the second exon of the TAP2 gene is shown. C, Frameshift mutation identified in one HNPCC case (h4) in the 2^nd exon of the β2m gene. Because flow sorting was not performed in the HNPCC cases, we cannot determine whether the frameshifts are homo- or heterozygous due to contamination with normal DNA.