Table 3.
Summary of homozygosity regions in PKSLI families
| Chromosome | Human Genome Assembly 19 (Feb. 2009) - Chromosomal coordinates and size | Family | Total number of individuals | Number of individuals homozygous | ||
|---|---|---|---|---|---|---|
| PPVT Affected | PPVT Unaffected/unknown | PPVT Affected | PPVT Unaffected/unknown | |||
| 2 | 111,705,738-133,160,621 (21.4 Mb) | PKSLI27 | 6 | 7 | 4 | 1 |
| 2 | 121,737,198-129,153,304 (7.4 Mb) | PKSLI24 | 3 | 7 | 2 | 0 |
| 14 | 32,636,261-99,254,712 (66.6 Mb) | PKSLI05 branch-d | 6 | 2 | 4 | 0 |
| 14 | 65,283,501-71,513,480 (6.2 Mb) | PKSLI17 | 3 | 2 | 2 | 0 |
| 22 | 39,178,701-49,324,829 (10.1 Mb) | PKSLI05 branch (a + c + d) | 15 | 5 | 8 | 0 |
| 22 | 40,881,793-43,088,971 (2.2 Mb) | PKSLI01 | 2 | 3 | 2 | 0 |
| 22 | 43,088,971-44,313,849 (1.2 Mb) | PKSLI12 | 5 | 5 | 3 | 0 |
| 22 | 34,469,292-46,022,339 (11.5 Mb) | PKSLI27 | 6 | 7 | 3 | 0 |
| 5 | 36,676,161-41,585,557 (4.9 Mb) | PKSLI09 | 2 | 3 | 2 | 1 |
| 5 | 36,666,071-39,426,327 (2.7 Mb) | PKSLI11 | 5 | 6 | 4 | 1 |
| 5 | 36,255,364-39,342,308 (3.0 Mb) | PKSLI17 | 3 | 2 | 2 | 0 |
| 8 | 83,857,175-96,534,806 (12.6 Mb) | PKSLI30 branch (d + e) | 4 | 7 | 4 | 1 |
| 8 | 77,844,519-101,472,165 (23.6 Mb) | PKSLI27 | 6 | 7 | 2 | 0 |
| 8 | 84,280,532-98,451,430 (14.1 Mb) | PKSLI10 | 5 | 6 | 3 | 0 |
| 17 | 71,774,648-80,280,865 (8.5 Mb) | PKSLI24 | 3 | 7 | 2 | 1 |