DLISC1 - week 4 Flashcards
(13 cards)
what is the central dogma?
1958 - crick coined the phrase ‘central dogma’ to refer to the flow of genetic infromation from DNA to protein
what is a genotype
the specific allele composition of a cell
the complete set of genes inherited by an individual organism
inherited from parents
identical twins share the same genoype
what is a phenotype
the detectable outward manifestations of a specific genotype
describes all aspects of an indivdual organisms morphology
heritable component, but influenced by the environment
no tow organisms share the same phenotype
waht are mutations
changes in nucleotided sequence of DNA
may occur in somatic cells and gametes
name two genetic disorderts with medilian phenotypes
hemophilia
muscular dystrophy (duchenne)
describe hemophilia
symptom: blood fails to clot
defect: defective blood clotting factor VIII
dominant/recessive: x-linked recessive
describe muscular dystrophy (Duchenne)
symptom: muscle waste away
defect: degradation of myelin coating nerves stimulating muscles
dominant/recessive: x-linked recessive
types of mutations
chromosome mutation
gene mutations
chromosome mutations
the mutation of the chromosomal segments of the DNA strands
five types exist: deletion, inversion, duplication, translocation and nondisjunction
gene mutations
refer to base change in the nucelotide sequence of a gene intragentic additions, deletions or rearrangements that disrupt normal gene function
types: point mutations (includes substitutions, insertions and deletions) and frameshift
genetic disorders
many hereditary disorders are caused by recessive, defective alleles
estimated that people carry 3-5 such alleles
each paretns must carry 1 recessive allele. offspring must inherit the defective allele from both paretns and ge thte disease
what is a mutant
individaul organisms having some altered form of a normal property
what is an oncogene
it is a mutated gene that has the potential to cause cancer
