Probes designed for detecting the mutations in the βigh3 gene
| n* | Mutations | Probe name | Length | Sequences (5′–3′)† | Exon number | Disease |
|---|---|---|---|---|---|---|
| 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. | ||||||
| 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 | |||||