Table 3 Polymorphisms in the LAMC2 gene
From: Detection of Novel LAMC2 Mutations in Herlitz Junctional Epidermolysis Bullosa
| Â | Â | Allellic polymorphisms | Â | Â | Â | |
|---|---|---|---|---|---|---|
Location | Nucleotide Positiona | Major | Minor | Detection Methodb | Allelic Frequencyc | PIC Value |
Exon 1 | 80 | C | G | PstI | 0.92/0.08 (100 chromosomes) | 0.138 |
Exon 1 | 112 | A | C | MslI | 0.75/0.25 (32 chromosomes) | 0.305 |
Exon 3 | 414 | TCC (Ser) | TCT (Ser) | BspEI | 0.76/0.24 (100 chromosomes) | 0.300 |
Exon 4 | 601 | GTC (Val) | GTT (Val) | TspRI | 0.63/0.37 (36 chromosomes) | 0.358 |
Exon 7 | 915 | GGG (Gly) | GGT (Gly) | Seq | n/d | — |
Intron 7 | 1070+37 | A | G | Seq | n/d | — |
Exon 14 | 2315 | AGT (Ser) | ACT (Thr) | AlwNI | 0.66/0.34 (68 chromosomes) | 0.3481 |
Exon 18 | 2805 | CAA (Gln) | CAG (Gln) | Seq | n/d | — |