PMC2871183_01
PMC2871183_02
Mutation in the F12 gene in two pedigrees. The pedigree of the two families is shown. Individuals are identified by Arabic numerals within each generation (roman numerals). Affected individuals are indicated with asterisks. A heterozygous mutation was found in subjects with solid symbols. Electrophoregrams correspond to the DNA sequence surrounding the mutated nucleotide in the F12 gene. In exon 9, a C > G heterozygous missense mutation was noted in both patients. Direct sequencing of forward and reverse strands was carried out with the BigDye terminator cycle sequencing kit (Applied Biosystems), using the same primers as for PCR amplification (5'-3' F AAGCGCGGAACTGGGGAC; R CCG GCTGGCCGGAATCTA).
OGI2010-957507.001.jpg
PMC2871183_02_OGI2010-957507.001.jpg
fig1
Blood samples were not available from the grandmother, mother, unaffected aunts, or cousins of the first case (Figure 1).