Sj. Hasstedt et al., INTERMEDIATE INHERITANCE OF TOURETTE SYNDROME, ASSUMING ASSORTATIVE MATING, American journal of human genetics, 57(3), 1995, pp. 682-689
Segregation analysis incorporating assortative mating was used to test
for major locus inheritance of Tourette syndrome in a single large pe
digree containing 182 members. The analysis provided evidence of a maj
or locus with an intermediate inheritance pattern for which the penetr
ance was estimated from the data as 28% in heterozygotes and 98%-99% i
n homozygotes. A significant assortative mating correlation was estima
ted from the data as 70%-79%. In contrast, when assortative mating was
not included in the model, intermediate inheritance was not inferred.
If, in addition, constancy of the allele frequencies across generatio
ns was not assumed, Mendelian transmission was rejected. Each subject,
affected or unaffected, was assigned a score reflecting the presence
and severity of symptoms. Higher mean scores in affected homozygotes t
han in affected heterozygotes suggested greater severity in homozygote
s: genotype information was obtained from genotype probabilities compu
ted assuming intermediate inheritance.