AA. Gastric C I 06. ppt - Università degli studi di Pavia

FAMILY WITH PREDICTIVE GENETIC - TESTING (A)
AND SEQUENCE CHROMATOGRAM OF CDH1 (EXON 12) (B)
A) squares = male and circles = female members;
- = unaffected and = affected persons;
- slash = death and line under symbol = prophylactic gastrectomy;
- + sign = mutation+, - sign = mutation-, in parentheses = result of predictive testing;
- arrow identifies proband [age at diagnosis and death (in parentheses) under each
symbol];
B) codon 598 in yellow;
- pt IV - 2 = wild - type sequence and pt IV - 1 = heterozygous for C2095T mutation;
[- Opa = opal nonsense mutation (one of 3 nonsense codons predicting protein
truncation) (NL = normal sequence and Mut = mutation; N in nucleotide chromatogram
indicates that both C and T are present)]