#
# Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and
# autosomal recessive ocular albinism (AROA)
# Morrell et al Hum Mol Genet 1997 6: 659-644
#
set locus WS2     aff    . Waardenburg syndrome type 2 
set locus AROA    aff    . Autosomal recessive ocular albinism
set locus TYR402  marker . Tyrosinase TYR*R402Q (rs1126809)
set locus MITFdel marker . MITF exon 8 1 bp deletion
read pedigrees inline
msu11 I-1    x      x      m n n x/x x/x 
msu11 I-2    x      x      f y y x/x x/x 
msu11 II-3   I-1    I-2    m y y R/Q d/w 
msu11 II-2   x      x      f n n x/x x/x 
msu11 II-4   I-1    I-2    f n n R/Q w/w 
msu11 III-3  II-3   II-2   m n n Q/Q w/w 
msu11 III-11 x      x      f n n x/x x/x 
msu11 III-4  II-3   II-2   f y y R/Q d/w 
msu11 III-12 x      x      m n n x/x x/x 
msu11 III-5  II-3   II-2   f y y R/Q d/w 
msu11 III-6  II-3   II-2   f y y Q/Q d/w 
msu11 III-13 x      x      m n n x/x x/x 
msu11 III-7  II-3   II-2   m y y R/Q d/w 
msu11 III-14 x      x      f n n x/x x/x 
msu11 IV-1   III-3  III-11 f n n R/Q w/w 
msu11 IV-2   III-3  III-11 m n n R/Q w/w 
msu11 IV-3   III-12 III-4  m n n R/Q w/w 
msu11 IV-4   III-13 III-6  f y y Q/Q d/w 
msu11 IV-5   III-13 III-6  m n n Q/Q w/w 
msu11 IV-6   III-7  III-14 m y n Q/Q d/w 
;;;;
run
set iter 10000
ass WS2
sum
set loc wslocus marker
if (WS2) then wslocus="a/b" else if (not WS2) then wslocus="b/b"
lod wslocus MITFdel 0.0
