Figure 1

The screening results of the TBX1 coding sequence. (A) Schematic representation of the TBX1 gene. The conserved T-box domain is marked with yellow squares and spans exons 3-7. The two variants described in this paper are indicated by black arrows. (B) Shown at the left are the DNA sequences of the 385G → A mutation (upper panel) and the wild-type TBX1 sequence (lower panel). The fragment was sequenced from forward and reverse directions. Shown at the right is the homologues sequence alignment of a part of the T-box domain of TBX1 from various vertebrates. (C) Shown on the left are the DNA sequences of the TBX1 gene with a 928G → A change. The three electropherograms show the homozygote AA, heterozygote GA, and homozygote GG. The homologues sequence alignment is shown at the right. The conserved amino acids are shown with a grey background, and residue 129 and 310 is indicated with a black box.