Fig. 1

Identification of the TEX11 mutation. a Amplification of TEX11 exon 29 by PCR. Conventional end-point PCR was performed to amplify exon 29 of the TEX11 gene from genomic DNA of two brothers (lanes 1 and 2) and their mother (lane 3). One clear and specific band at 100 bp was observed. b Mapping of the TEX11 mutation. The PCR product sequences from the two brothers and their mother were verified by Sanger sequencing and aligned to human TEX11 cDNA. Because Sanger sequencing was carried out using the reverse primer, the representative sequences were complementary to human TEX11 cDNA (GenBank accession number, NM_031276). Accordingly, the mutation (C → A) in the map was indeed G → T in human TEX11 cDNA