Table 2 Probes designed for detecting the mutations in the βigh3 gene.
| n* | Mutations | Probe name | Length | Sequences (5′–3′)† | Exon number | Disease |
|---|---|---|---|---|---|---|
| 1 | R124 | Not ACD (4‐CGC) | 11 | GGACCGCACGG | 4 | Normal/heterozygotic |
| 13 | CGGACCGCACGGA | |||||
| 15 | ACGGACCGCACGGAG | |||||
| 17 | CACGGACCGCACGGAGA | |||||
| 2 | R124 | Not LCD I (4‐CGC) | 11 | CGGACCGCACG | 4 | Normal/heterozygotic |
| 13 | ACGGACCGCACGG | |||||
| 15 | CACGGACCGCACGGA | |||||
| 17 | ACACGGACCGCACGGAG | |||||
| 3 | R124H | ACD (4‐CAC) | 11 | GGACCACACGG | 4 | ACD |
| 13 | CGGACCACACGGA | |||||
| 15 | ACGGACCACACGGAG | |||||
| 17 | CACGGACCACACGGAGA | |||||
| 4 | R124C | LCD I (4‐TGC) | 11 | CGGACTGCACG | 4 | LCD I |
| 13 | ACGGACTGCACGG | |||||
| 15 | CACGGACTGCACGGA | |||||
| 17 | ACA CGG ACT GCA CGG AG | |||||
| 5 | R124L | RBCD (4‐CTC) | 11 | GGACCTCACGG | 4 | RBCD |
| 13 | CGGACCTCACGGA | |||||
| 15 | ACGGACCTCACGGAG | |||||
| 17 | CACGGACCTCACGGAGA | |||||
| 6 | R555 | Not GCD (12‐CGG) | 15 | AAGAGAACGGAGCAG | 12 | Normal/heterozygotic |
| 17 | CAAGAGAACGGAGCAGA | |||||
| 16 | CAAGAGAACGGAGCAG | |||||
| 16 | AAGAGAACGGAGCAGA | |||||
| 7 | R555W | GCD (12‐CGG) | 17 | CAAGAGAATGGAGCAGA | 12 | GCD |
| 16 | CAAGAGAATGGAGCAG | |||||
| 16 | AAGAGAATGGAGCAGA |
ACD, Avellino corneal dystrophy; GCD, granular corneal dystrophy; LCD I, lattice corneal dystrophy type I; RBCD, Reis–Bucklers corneal dystrophy.
*These probe numbers are used in fig 3A and fig 4A when showing the probe positions.
†The sequences of the finally selected probes used in DNA chips are shown in bold.