WEEK 1 Flashcards
what is the gene
A gene is the fundamental unit of heredity
what is the name of the form of the genes
Genes come in multiple
forms called alleles
what is the genotype and phenotype
Genotype confers
phenotype
where does a genetic information is carried
Genetic information is
carried in DNA
where do genes are located
Genes are located on
chromosomes
how does the genetic information transfere in the humans
Genetic information is
transferred from DNA to
RNA to protein
what is a gene
A genetic factor (region of DNA) that helps determine a
characteristic
what is the allele
One of two or more alternative forms of a gene
what is the Locus
Specific place on a chromosome occupied by an allele
what is the Genotype
Set of alleles possessed by an individual organism
what is Heterozygote
An individual organism possessing two different alleles at
a locus
what is Homozygote
An individual organism possessing two of the same
alleles at a locus
what is Phenotype or Trait
The appearance or manifestation of a character
what are the steps of the mitosis
1- interphase
2- prophase
3- prometaphase
4- metaphase
5- anaphase
6- telometaphse
what is the Pedigree Assumptions for rare trait
If the trait is RARE and autosomal recessive
then individuals who marry/mate into the
pedigree are not carriers but are…
homozygous for the ‘normal’ allele…
unless there is evidence to the contrary
what is the Null/Amorphic Alleles
. A nonfunctional protein is produced OR
II. No protein is produced
what is Hypomorphic Alleles
I. A poorly functioning protein is produced OR
II. Reduced amounts of a normally functioning
protein is produced
what is the Dominant Hypermorphic Alleles
negative phenotypic consequences due to the over- production of a normal protein OR
• Negative phenotypic consequences due to the
production of a protein with increased activity levels
what is the Neomorphic Alleles
• Negative phenotypic consequences due to the
presence of an altered protein that has a new function
• Negative phenotypic consequences when the altered
protein interferes with the wildtype protein
(Dominant-negative allele)
how the conncetion if a trait is rare and dominent
For traits that are rare and dominant, affected
individuals are most likely to be heterozygous (Bb)
