Figure 1
Characteristics of the primer sets used for the polymerase chain reaction assay_
| Oligo Primers | Sequences (5’>3’) | Tm | Amplicon (bp) |
|---|---|---|---|
| F71aF | GAA CTT TGC CCG TCA GTC CC | ||
| F71aR | CCG CCA GAA AAC CCT CCT G | 61 | 258 |
| F71bF | GAC AGT GCC TGG GAT GTG G | ||
| F71bR | GAG CGG TCA CTT CCT CTC GA | 60 | 293 |
| F72F | GGG AAG GAT GGG CGA CGG | ||
| F72R | CCA GGA AAG CGG AGT CAC CC | 62 | 534 |
| F734F | TGT CCA GTG CTT ACC GTT GG | ||
| F734R | AAT TTC CAA CTG GGG CTG AG | 59 | 419 |
| F75F | GAT CAG TCC ACG GAG CAG G | ||
| F75R | GTA GAT GTG AAG CCA CTC CC | 58 | 408 |
| F76F | CTG AAT CTT TCC TAG TGG CAC G | ||
| F76R | CAA AAG GCT TCA AGA CCC TCA G | 59 | 235 |
| F77F | AGC AAT GTG ACT TCC ACA CC | ||
| F77R | AGC CCC CAG TCT TTT ATC GT | 58 | 543 |
| F78aF | CCC AGA CCC CAG ATT CAC CC | ||
| F78aR | GCC TCC ACT GTC CCC CTT G | 62 | 633 |
| F78bF | AGT CAC GGA AGG TGG GAG AC | ||
| F78bR | GGG ATT TGG TGC CAG GAC AG | 61 | 349 |
Characteristics of the primer sets used for the reverse transcription-polymerase chain reaction assay_
| Oligo Primers | Sequences (5’>3’) | Tm | Amplicon (bp) |
|---|---|---|---|
| F7cD1F | CAA CAG GCA GGG GCA GCA C | ||
| F7cD1R | TCG TGG CAC CGA CAG GAG C | 63 | 303 |
| F7cD2F | TGT GTG AAC GAG AAC GGC G | ||
| F7cD2R | ACC TTC CGT GAC TGC TGC | 60 | 680 |
| F7cD3F | ATG TGG TGC CCC TCT GCC | ||
| F7cD3R | TGT CTC TGT CTC CCT CCC CA | 62 | 591 |
The F7 mutation locations and corresponding nucleotide and amino acid changes in the study patients_ The indicated variants in parentheses are in Human Genome Variation Society (HGVS) format
| Patient | Exon | Nucleotide Change | Amino Acid Change | Genotype | MutationTaster2 Prediction a |
|---|---|---|---|---|---|
| Patient 1 | 8 | g.10648C>T (g.12728C>T) (GCG>G7G) | A244V (A282V) | heterozygote | disease causing score: 64 |
| Patient 2 | 8 | g.10824C>A (g.12904C>A) (CCC>ACC) | P303V (P341T) | homozygote | disease causing score: 38 |
| Patient 3 | 8 | g.10648C>T (g.12728C>T) (GCG>G7G) | A244V (A282V) | heterozygote | disease causing score: 64 |
| Patient 4 | 1a | g.64G>A (g.115G>A) (GTC>ATC) | V(–39)I (V22I) | heterozygote | disease causing score: 29 |
| Patient 5 | 5 | g.7807G>C (g.9891G>C) (TGT>TCT) | C91S (C129S) | homozygote | disease causing score: 112 |
| Patient 6 | 8 | g.10828G>A (g.12908G>A) (CGG>CAG) | R304Q (R342Q) | homozygote | disease causing score: 43 |
| Patient 7 | 8 | g.10763C>G (g.12843C>G) (AGC>AGG) | S282R (S320R) | compound | disease causing score: 110 |
| 8 | g.10960A>G (g.13040A>G) (CAT>CGT) | H348R (H386R) | heterozygote | disease causing score: 29 | |
| Patient 8 | 8 | g.10828G>A (g.12908G>A) (CGG>CAG) | R304Q (R342Q) | compound | disease causing score: 43 |
| Intron 7 | g.9733A>G (IVS7+7A>G) | – | heterozygote | disease causing score: – | |
Patient characteristics, symptoms and plasma FVII coagulation activity (FVII:C)_
| Patient | Sex-Age | Consanguinity | FVII:C (IU/dL) | Hemorrhagic Symptoms |
|---|---|---|---|---|
| Patient 1 | M-22 | no | 18.0% | gastrointestinal bleeding, epistaxis, oral cavity bleeding, cutaneous symptoms |
| Patient 2 | M-34 | yes | 7.0% | hemarthrosis, epistaxis, oral cavity bleeding, cutaneous symptoms |
| Patient 3 | F-32 | no | 33.0% | menorrhagia, epistaxis, oral cavity bleeding, cutaneous symptoms |
| Patient 4 | M-54 | no | 29.0% | asymptomatic |
| Patient 5 | M-20 | NA | 2.0% | cutaneous symptoms, epistaxis, oral cavity bleeding |
| Patient 6 | M-67 | yes | 16.0% | epistaxis, oral cavity bleeding, cutaneous symptoms |
| Patient 7 | M-26 | no | <1.0% | hemathrosis, epistaxis, oral cavity bleeding, cutaneous symptoms |
| Patient 8 | M-31 | no | 25.0% | gastrointestinal bleeding, epistaxis, oral cavity bleeding, cutaneous symptoms |