one gene affects long fingers, several organs... which disease and clinical example of and why?
Marfan Syndrome; pleitropic because one gene affects many phenotypic traits
Mom looks different from kid and grandma. (myotonic dystrophy) or long DNA seq. in Duchenne Muscular dystrophy that can be mutated anywhere along DNA are examples of?
Phenotypic heterogeneity: same mutation with different phenotypes.
Myosin/actin fibers (different genes) cause single disorder is example of?
Locus heterogeneity
Genetic heterogeneity?
DMSP: Different Mutation Same Phenotype
Long gene but 1000 mutations in same loci of gene.
Allelic Heterogeneity: Different mutations on the same loci of gene (Cystic fibrosis)
Variable expressivity?
Common to Allelic Heterogeneity..means severity of disease depends on mutation
If two _____geneity mate, their offspring can still be normal?
Locus heterogeneity
Characteristics of autosomal dominant?
50% chance offspring get disease; male-to-male transmission; generally AA (homozygous) is worse EXCEPT in HUNTINGTON'S
Examples of gene imprinting?
When one gene is silenced and recieved from parent.