Table 2

Maximal lod score values of pedigrees A, B, and C

PedigreeMaximal lod score valuesDisease gene identified
TNNT2MYL3FHC locus on chromosome 7MYBPC3MYL2MYH7ACTCTPM1TNNI32-150
A−1.0−1.3−2.6−3.3−0.7−2.7−3.0 0.6 −0.3 TPM1
B−0.9−3.7−0.1−1.1−1.81.2−1.6 1.6 0.03 TPM1
C
 Major criteria−3.0−2.5−5.2−5.4−6.0−4.9 2.7 −4.2−2.9 ACTC
 Minor criteria−2.6−5.6−4.3−5.9−3.3−6.2 3.6 −7.4−2.3
  • All values are maximal multipoint lod score values except forACTC (maximal two point lod score value) in which case only one intragenic polymorphic marker was used. Pairwise and multipoint linkage analyses were carried out using the LINKAGE 5.1 package3 38 and the VITESSE computer program.39A mutation was identified in the disease gene indicated for each family.

  • 2-150 The distance from the TNNI3 locus to the most proximal flanking marker used for linkage analysis (D19S887) was approximately 20 centiRays (cR) corresponding to a genetic distance of approximately 10 cM according to the information given at the Whitehead RH map.22 This rather conservative assumption was applied in the linkage analysis. Lod score values at positions closer to D19S887 were increasingly negative in all families.