A pedigree with protanopia and bulbospinal muscular atrophy.
We have studied one family of a pedigree in which bulbospinal muscular atrophy and protanopia were segregated. Genotypes for these disorders were obtained on three generations, and the maximum likelihood estimate of recombination fraction was 0.4 with the lod score method. The results indicated that the two loci are not close; the locus for bulbospinal muscular atrophy is not located near the end of the long arm of the X chromosome.
D003118:Color Perception; D005260:Female; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D013116:Spinal Cord; D014786:Vision Disorders / Q000150:complications / Q000235:genetics*