Table 1. Details of ARRP families screened.
| Family number | No. of homozygous regions of >10 consecutive SNPs | RP genes tested for mutations | Size of corresponding homozygous region (Mb) | HBD confirmed by microsatellite markers |
|---|---|---|---|---|
| 1 |
8 |
CRB1 |
21.2 |
Y |
| |
|
AIPL1, GUCY2D |
4.3 |
N |
| 2 |
11 |
- |
- |
- |
| 3 |
11 |
RP1 |
8.8 Mb |
Y |
| 4 |
12 |
- |
- |
- |
| 5 |
6 |
NR2E3 |
9.6 |
Y |
| 6 |
7 |
- |
- |
- |
| 7 |
5 |
- |
- |
- |
| 8 |
13 |
RGR |
40.9 |
Y |
| 9 |
15 |
CRB1 |
15.3 |
Y |
| 10 |
7 |
- |
- |
- |
| 11 |
18 |
- |
- |
- |
| 12 |
10 |
- |
- |
- |
| 13 |
7 |
RDH12 |
44.1 |
Y |
| 14 |
11 |
RGR, PCDH21 |
23.6 |
Y |
|
FAM161A |
8.2 |
N |
||
| 15 |
12 |
- |
- |
- |
| 16 |
6 |
- |
- |
- |
| 17 |
8 |
- |
- |
- |
| 18 |
15 |
FAM161A |
5.7 |
N |
| 19 |
5 |
RBP3 |
26 |
Y |
| 20 |
6 |
RDH12 |
23.3 |
Y |
| |
|
RD3 |
18.6 |
N |
| 21 |
13 |
NRL |
9.5 |
N |
| 22 |
8 |
NR2E3, RLBP1 |
28.8 |
Y |
| |
|
FAM161A |
15.2 |
Y |
| 23 | 6 | RDH5 | 7.5 | Y |
Shown above are the 23 families screened for homozygosity on the SNP 6.0 K array, with mutations not identified. The numbers of homozygous intervals in each family, consisting of more than 10 consecutive SNPs each, are shown in column 2. Known RP/retinal dystrophy genes localizing to one or more homozygous regions of 13 families were screened for mutations (shown in column 3). Genes mapping to a common region are shown in the same row. The size of the homozygous segment corresponding to each of the genes is shown in column 4. The last column shows whether the homozygosity at the relevant locus was confirmed by testing affected offspring and at least one unaffected sibling/parent by using microsatellite markers. HBD- homozygosity by descent.