Figure 2.

Examples of DNA sequencing results. (A) Patient 487. Wild-type sequence is present in normal kidney DNA. Overlapping peaks representing the wild-type (G) and mutant (T) bases are present in the angiomyolipoma (arrow). The variant band in DNA from the angiomyolipoma was cut from the SSCP gel, reamplified, and sequenced (angiomyolipoma variant band). Only the mutant sequence, containing the T, is present. Overlapping peaks are seen at the same position in the microdissected L2 LAM cells (arrow). The mutant peak is predominant in both the LAM and the angiomyolipoma, consistent with the LOH results. (B) Patient 490. A 13-bp deletion in one copy of TSC2 results in overlapping peaks beginning at position 2061 in the angiomyolipoma (arrow). DNA from the angiomyolipoma variant band that was cut from the gel shows the mutant sequence, with the arrow indicating the first affected base. (C) Patient 491. A 4-bp deletion in one copy of TSC2 results in overlapping peaks beginning at position 529 in the angiomyolipoma (arrow). The angiomyolipoma variant band shows the deletion, indicated by the open triangle. The deletion, indicated by the four outlined bases, is not present in lymphoblastoid cells. (D) Patient 621. Wild-type sequence is seen in lymphoblastoid cells and normal kidney. Overlapping peaks of wild-type sequence (G) and mutant (A) are present in the angiomyolipoma (arrow). (E) Patient 651. Wild-type sequence is seen in lymphoblastoid cells, normal kidney, and normal lung. Overlapping peaks of wild-type sequence (G) and mutant (A) are present in the angiomyolipoma and LAM cells (arrows).