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37 Cards in this Set

  • Front
  • Back
Allelic variation
Variation of alleles and the severity of a genotype they cause
Aneuploidy
Incorrect number of chromosomes

Nullisomy - loss of a pair
Monosomy - loss of a chromosome
Trisomy - gain of a chromosome
Tetrasomy - extra pair
Autosomes
Non sex chromosomes
Barr body
Inactivation of the x chromosome
Codominance
Heterozygote showing phenotype of both alleles
Epistasis
The interaction of two or more genes that controls a single phenotype
Expressivity
Measures the extent a given genotype is expressed at the phenotypic level
Gene
Inherited factor which influences a characteristic of an individual
Hapoltype
Particular combination of SNP's in a small region of a chromosome
Hemizygous
Genes on the X chromosome in males
Heredity
study of inheritence
Heteromorphic
Easily distinguished sex chromosomes
Homeobox
Genes which control body plan
Incomplete dominance
Heterozygotes showing an intermediate phenotype
Linkage disequilibrium
Genotype at two or more loci are not independent of one another
Mendel's first law
Alleles of a single gene segregate randomly into gametes (crossing over)
Mendel's second law
Alleles from different genes segregate randomly into gametes (independent assortment
Multiple alleles
More than two alleles for a gene
Non disjunction
Is the failure of chromosome pairs to separate properly during meiosis in phase 1 or 2
Non synonymous mutation
Change in the base sequence - change in the amino acid sequence
Penetrance
Measures the percentage of individuals with a given genotype who exhibit the expected phenotype
Phenotype
How a gene affects the organism
Pleiotropy
One gene influences more than one trait
Polymorphism
Occurs when two or more clearly different phenotypes exist in the same population of a species
Population genetics
Study of a gene pool of an organism over time
Pseudoautosomal region
Region shared between the X and Y chromosome needed for pairing
Spermatogenesis
Sex linked genes on the Y chromosome
Sutton Boveri Theory
Chromosome theory - looking at the behaviour of chromosomes during meiosis and fertilisation
Synapsis
Pairing of homologous chromosomes
Synonymous mutation
Change in base sequence = no change in amino acid sequence
Genomic Equivalence
The fact that the vast majority of the somatic cells in an organism have identical genomes, regardless of their state of differentiation
Dominant Epistasis
12:3:1 in dihyrbid cross
Dihybrid cross
A cross between an F1 generation of two individuals that differ in two traits of particular interest
Hybrid
Causes two different alleles of the same gene
Linkage equilibrium
genotype present at one locus is independent of the
genotype at a second locus
Recessive epistasis phenotype ration f2 generation
9:4:3
Independent assortment phenotype ration f2 generation
9:3:3:1