Figure 2. .

Sequence analysis of TSFM. A, DNA sequence chromatogram from a control and patient 1 (homozygous C997T) and a heterozygous chorionic villus sample. B, Domain structure of EFTs (N-terminal in black, subdomain N in white, and subdomain C in gray) showing the predicted Arg333Trp substitution in subdomain. C, Protein sequence alignment for Homo sapiens, Bos taurus, Caenorhabditis elegans, and E. coli. The alignment from human to bacteria shows that the mutated Arg333Trp is highly conserved among different species. D, Analysis of microsatellite markers spanning the TSFM locus on chromosome 12. The markers are arbitrarily assigned to chromosomes in both patients.