Phenylketonuria(PKU)- human disease caused by a recessive allele of a gene- will only develop if 2 copies of recessive are inherited
Mutation of a chromosome on chromosome 12 doing for the enzyme phenylalanine hydroxylase(PAH). this enzyme breaks down the essential amino acid phenylaline(Phe) to tyrosine. Without the enzyme there is a build up of Phe causing disruptions to neurotransmitters in the brain. Both AA are needed for protein synthesis in cells
symptoms of PKU are:
developmental problems, brain and mental disorders
CCR5 protein for HIV
spike protein on HIV binds to receptors, HIV binds to CCR5 receptors on WBCs. people without CCR5 protein cannot get HIV.
some populations have inherited a frameshift mutation called DELTA 32 resulting in a deletion of a portion of CCR5 protein
this results in a non-functioning protein and prevents HIV from entry to WBCs
HIV weakens immune system
huntingtons disease
inherited in an autosomal dominant pattern, sympoms involve involuntary jerking, trouble walking, speaking and swallowing. live 15-20 years after symptoms start
Huntington’s is a neurodegeneative genetic disorder in which the HTT gene on chrom 4 coding for huntingtin protein experiences a frameshift insertion mutation.
the normal Huntington gene has several repeat units of CAG 10-35. mutated one would show one or several additions CAG sequences >36
phenotypic plasticity
occurs when an organism change there gene expression pattern of proteins in order to become adapted to specific environmental conditions. change is reversible as the genetic themselves remain unchanged
