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. 2000 Mar 7;97(6):2773–2778. doi: 10.1073/pnas.050400997

Figure 2.

Figure 2

Point mutations in the ATM gene in MCLs containing a deletion of one ATM copy. Arrowheads indicate the positions of the mutations. (A) MCL-C. SSCP analysis of a 196-bp restriction fragment of the RT-PCR product containing exons 56–65 and DNA sequence analysis of the corresponding RT-PCR products identified the missense mutation Arg3008Cys. This mutation has been described in two T-PLL cases (34, 37) and is known as an A-T-causing ATM alteration (48). (B) MCL-H. Using SSCP analysis, an aberrantly migrating restriction fragment of the RT-PCR product harboring exons 42–51 was detected. Sequence analysis of the respective RT-PCR fragments identified a single-nucleotide deletion (6638delA) that caused a frameshift and truncation. Note that the amount of cells with an 11q deletion was only 79% in the tumor sample, which is responsible for the unusually high signal intensity of the normal allele. The patient's germ-line DNA did not contain the mutation. (C) MCL-G. SSCP and subsequent DNA sequence analysis of RT-PCR products encompassing exons 22–30 identified the truncating mutation Gln1361ter. This mutation was not present in the patient's germ-line DNA.