L9: Human Genetics

Autosomal Dominant Transmission

displays vertical transmission and usually a GOF mutation.

Autosomal Dominant Transmission Biochemistry

protein is produced in excessive quantities or is hyperactive and the single normal allele can do nothing to tone down the activity

mutant protein takes on a new, inappropriate role wreaking havoc in the cell

Autosomal Recessive Transmission

most frequently observed for diseases, displays horizontal transmission and usually LOF

can affect reproduction due to early death or infertility

Penetrance

some individuals with a particular genotype do not have the associated phenotype

Pleiotropy

One gene causes more than one phenotype

occurs when one gene controls more than one pathway or is expressed in more than one body part

phenotype includes many symptoms with different subsets

Genomic Imprinting

individual has one active copy of that gene and only individuals with the mutated allele is expressed will have

the disease, whereas individuals whose mutated copy is imprinted will be healthy.

Dynamic Mutations

unstable trinucleotide repeats that cause the disease, the expansion of the repeat occurs with each generation so disease phenotype worsens

allow some diseases to show more severe phenotype and earlier onset of disease in each succeeding generation.