Table 2.
Haplotyping in the members of Family 1b.
| Gene | Variation | Family 1b | ||||||
|---|---|---|---|---|---|---|---|---|
| II2 | II3 | III1 | III2 | III3 | IV1 | IV2 | ||
| SERPINC1 | c.1171C>T (p.R391*) | CT | CC | CC | CT | CT | CT | CT |
| SERPINC1 | c.1011A>G (p.Q337Q) rs5878 | AA | AG | AG | AG | AG | AG | AG |
| SERPINC1 | (rs677) C > G | CG | CG | GG | CG | CG | CG | CG |
| SERPINC1 | IVS5 (ATT)5–18 | 10/12 | 11/13 | 10/11 | 11/12 | 11/12 | 10/12 | nd |
| F5 | c.1691A>G (p.R506Q) | AG | AA | AG | AG | AG | AG | AG |
| F5 | IVS2 (AT)6–33 | 15/17 | 15/19 | 16/20 | 17/19 | 17/19 | 16/19 | nd |
| F5 | IVS11 (GT)12–16 | 14/15 | 13/15 | 13/14 | 13/14 | 13/14 | 13/14 | 14/14 |
nd: not determined due to shortage of genetic material from aborted sample (IV2). Mutated alleles, or those in linkage with the defect(s), are shown in bold.