Table 1.
Summary of linkage loci identified in PKSLI families under recessive inheritance model
| Linkage loci (hg19) | Max. pairwise LOD score—complete penetrance | Max. multipoint LOD score, complete penetrance | Max. pairwise LOD score—reduced penetrance (0.70) | Mode of inheritance | Family/ branch | Homozygosity |
|---|---|---|---|---|---|---|
| 2q33.3-q35 | 3.28 | 4.18 | 3.27 | Recessive | PKSLI05 -branch-d | No |
| 2q37.1-q37.2 | 3.05 | 3.85 | 2.28 | Recessive | PKSLI12 | No |
| 14q22.3-q24.3 | 1.77 | 2.37 | 1.77 | Recessive | PKSLI05 -branch-d | Yes |
| 22q13.31-q13.32 | 1.77 | 2.23 | 1.77 | Recessive | PKSLI05 -branch-d | Yes |
hg19 = Human Genome Assembly 19 (Feb. 2009)