#
# Pippucci et al. Mutations in the 5' UTR of ANKRD26, the ankirin
# repeat domain 26 gene, cause an autosomal-dominant form of inherited
# thrombocytopenia, THC2. Am J Hum Genet. 2011 Jan 7;88(1):115-20.
#
# Best two point lod CArepeat1 c=0, 3.31; D10S111 c=0, 3.23
#
# Pedigree 1 from Figure 1.
#
set loc thc2      aff .
set loc D10S586   mar 24.7
set loc D10S572   mar 25.6
set loc D10S1775  mar 26.4
set loc D10S197   mar 26.5
set loc D10S111   mar 26.8
set loc D10S593   mar 27.1
set loc CArepeat1 mar 27.9
set loc CArepeat2 mar 28.3
set loc D10S174   mar 28.6
read pedigree inline
thc2.1 12 x  x  m y x x x x x x x x x x x x x x x x x x 
thc2.1 11 x  x  f n x x x x x x x x x x x x x x x x x x 
thc2.1 27 12 11 m y x x x x x x x x x x x x x x x x x x 
thc2.1 28 x  x  f n 3 1 2 2 3 1 3 2 5 3 x x 7 7 6 2 3 4 
thc2.1 26 12 11 m y 3 3 3 4 1 1 2 5 2 4 1 1 13 8 1 5 6 9 
thc2.1 23 12 11 f n 3 3 4 4 3 1 2 5 5 4 1 1 8 8 5 5 2 9 
thc2.1 21 x  x  m n x x x x x x x x x x x x x x x x x x 
thc2.1 22 12 11 f y 3 2 3 2 1 1 2 2 2 3 1 3 13 6 1 6 6 5 
thc2.1 37 27 28 m y 3 1 3 2 1 1 2 2 2 3 x x 13 7 1 2 6 4 
thc2.1 38 27 28 m n 3 1 4 2 1 1 5 2 4 3 x x 8 7 5 2 9 4 
thc2.1 35 21 22 m n 3 2 1 2 3 1 3 2 3 3 1 3 5 6 1 6 6 5 
thc2.1 31 21 22 m y 3 3 1 3 3 1 3 2 3 2 1 1 5 13 1 1 6 6 
thc2.1 32 x  x  f n 3 3 2 2 1 3 2 5 3 3 1 5 12 2 3 8 6 6 
thc2.1 34 21 22 f y 3 3 3 3 2 1 1 2 3 2 1 1 11 13 6 1 6 6 
thc2.1 33 x  x  m n 1 3 3 4 1 1 5 5 3 4 1 1 8 1 6 7 4 4 
thc2.1 42 31 32 f n 3 3 1 2 3 3 3 5 3 3 1 5 5 2 1 8 6 6 
thc2.1 41 31 32 f n 3 3 1 2 3 1 3 2 3 3 1 1 5 12 1 3 6 6 
thc2.1 43 34 33 f y 1 3 3 3 1 1 5 2 3 2 1 1 8 13 6 1 4 6 
thc2.1 44 34 33 f y 3 3 4 3 1 1 5 2 4 2 1 1 1 13 7 1 4 6 
;;;;
run
set iter 1000
ass thc2
sum
set loc trait mar
if (thc2) then trait="1/2" else if (thc2==n) then trait="2/2"
lod trait { CArepeat1 D10S111 } 0.0
