Table 1.
No. of Families Used |
No. of Subjects Genotyped |
LOD Score at Markera |
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Scoring Function and Data Set | As OriginallyPresented | After Split | Affected | Unaffected | D1S1677 | D5S408 | D7S559 | PAH |
Shomoz, with overrelated individuals | 44 | 47 | 144 | 55 | 1.59 | 1.15 | 1.67 | 3.11 |
Shomoz, without overrelated individuals | 41 | 43 | 130 | 48 | 1.40 | .92 | 2.20 | 3.45 |
Sall, with overrelated individuals | 40 | 43 | 140 | 51 | 2.93 | 2.80 | .09 | 3.11 |
Sall, without overrelated individuals | 37 | 39 | 126 | 44 | 2.77 | 2.41 | .09 | 3.28 |
Shomoz, with overrelated individuals, with additional genotyping | 46 | 49 | 160 | 60 | … | … | … | 4.61 |
Shomoz, without overrelated individuals, with additional genotyping | 43 | 45 | 143 | 53 | … | … | … | 5.20 |
Sall, with overrelated individuals, with additional genotyping | 43 | 46 | 157 | 56 | … | … | … | 3.51 |
Sall, without overrelated individuals, with additional genotyping | 40 | 42 | 140 | 49 | … | … | … | 3.64 |
Note.— Regions achieving LOD scores ⩾2 in at least one analysis. Shown are results with the Shomoz or Sall scoring function, including or excluding the individuals “corrected” for overrelatedness, and, for chromosome 12, including additional genotyping.
The scores presented are exactly at the marker listed for D1S1677, D5S408, and D7S559. In the case of PAH, the score shown is exactly at the marker when Shomoz is used; when Sall is used, however, the score shown is the largest in the region, which was found between D12S1041 (104.12 cM) and PAH (109.47 cM) in the genomewide scan and between PAH and D12S78 (111.87 cM) when extra markers were added to this region.