Exon 10
1 2
Forward primer | |
gtggagtagctcttgacatgaaagaaagcctttctcttcatgcaaccatgggcatctttcctatgttttggaagttt
3 4 5
| | |
ctaaaagacttttgggttactgttttctag GG GCC AAT GGC TTG GCC AAT CCT CGT GAT TTC TTG
Gly Ala Asn Gly Leu Ala Asn Pro Arg Asp Phe Leu
6,7
|
ATA CCC ATT GCC TGG TAT GAG GAT CGC CAA GTA CCA GGT GGT TAC ACG GTC ATT AAT
Ile Pro Ile Ala Trp Tyr Glu Asp Arg Gln Val Pro Gly Gly Tyr Thr Val Ile Asn
8
|
AAA TAC CAG GGC AAG CTG TTT GCT GCC AAA CAG gtaaagtaaaagggttggcaggcaagggaggaa
Lys Tyr Gln Gly Lys Leu Phe Ala Ala Lys Gln
atgaagagtgattgagcacttactgattgccaaggcgagtgttacaaactttacatatatcctttcgttgttatcat
accactacggcactacaaataaagc
Reverse
primer
Code |
Trivial name |
Systematic name |
Description |
1 |
IVS9-56G®
A |
c.817-56G®
A |
AKU mutation |
2 |
IVS9-38insA |
c.817-38insA |
Polymorphism |
3 |
IVS9-17G®
A |
c.817-17G®
A |
AKU mutation |
4 |
R225H |
c.841G®
A |
AKU mutation |
5 |
F227S |
c.847T®
C |
AKU mutation |
6 |
P230S |
c.855C®
T |
AKU mutation |
7 |
P230T |
c.855C®
A |
AKU mutation |
8 |
K248R |
c.909A®
G |
AKU mutation |
|