genetics Flashcards
(26 cards)
Euploid
correct number of chromosomes
Haploid
single chromosomes
Diploid
paired chromosome
Polyploidy
more than the diploid number of each chromosome
Triploidy
3 copies of each chromosome
Tetraploidy
4 copies of each chromosome
Aneuploidy
only 1 chromosome is affected
Trisomy
3 copies of 1 chromosome
Monosomy
1 copy of 1 chromosome
Down Syndrome
trisomy of chromosome 21
Klinefelter’s Syndrome
at least 2 X chromosomes and 1 Y chromosome
Turner’s Syndrome
monsomy of X chromosome
Allele
one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome
Genotype
exact pairing of the alleles, not concerned with expression
Phenotype
physical appearance - expression of trait
Substitution mutation
error in DNA replication which places wrong sequence of nucleotides in the wrong position
Deletion mutation
DNA material is not copied over
Environmental mutation
exposure to environmental factor changes how DNA & RNA are copied
Autosomal
located on one of the numbered chromosomes
Autosomal Dominant
If one parent has the gene there is a 50% chance the child will have condition
Autosomal Recessive
Both parents need to have the trait for the child to have condition
Penetrance
percentage of with genotype and expected phenotype
Expressivity
extent of variation in phenotype
X-Linked Inheritance
combination of environmental factors and mutations of multiple genes
