Principles Of Genetic Disease Flashcards
Frame shift mutations
Occur when nucleotides are added or subtracted in non multiples of 3
Waardensburg Syndrome
AD 2q35 and is a TF
Deafness and pigmentation disturbance
What are the most common transposon sequences
Alu sequences
Disease caused by tandem repeat expansion
Huntington disease
Loss of function
A change in a gene negatively affecting the amount of function of gene product
Haploinsufficiency
50% not sufficient for normal function
Gain of function
Change in a gene resulting in a gene product that is usually biologically harmful
Dominant Negative
When the defective protein is not only nonfunctional but also inhibits function of the normal counterpart
Osteogenesis imperfecta
Mutation
Any permanent change in the nucleotide sequence of a genome
Polymorphism
A mutation that is relatively abundant Ina population
Dosage sensitivity
The level of protein product produced by a gene can produce different phenotypes at various levels
CMT
CMT
Hallmark is demyelination and inheritance is AD
Duplication of PMP22
CMT type 1a
Deletions of PMP22
HNPP
Point mutation in PMP22
DSS
Germaine mutation
Mutation that occurs in every cell in an individual and that was inherited from a parent
Somatic Mutation
A utation only occurring in a subset of somatic cells
Alleles Heterogeneity
Occurrence of more than one disease causing allele at a locus
Locus heterogeneity
The association with more that one locus to a specific clinical phenotype
Clinical heterogeneity
Variation in relation to presentation or treatment of a disease
Modifier genes
Genes that affect the occurrence or severity of the phenotype associated with mutation in a non allelic gene
