genetics and genomics Flashcards
study of inheritance of characteristics
genetics
sequence of nucleotides of DNA
gene
rod-shaped sequence of DNA
chromosome
all DNA in a cell
genome
cells with 23 pairs of chromosomes
somatic
two sets of 23 chromosomes
diploid
one set of 23 chromosomes
haploid
study of the body in terms of multiple, interacting genes
genomics
a variation of a particular gene
alleles
the particular combination of alleles
genotype
the expression(appearance) resulting from a particular genotype
phenotype
the most common and produce the normal functioning phenotype
wild-type alleles
a change from the wild-type and often cause disease
mutant alleles
shows parents’ genotypes and probability of future children’s genotypes
punnett square
shows past family relationships and expression of known traits
pedigree
neither gene produces LDL. the result is a heart attack during childhood
homozygous mutant
only one gene produces LDL. the result is a heart attack during youth to early adulthood
heterozygous
both genes produce LDL. the result is lack of disorder
homozygous wild
a numerical expression of how many people who inherit a trait express it
penetrance
all who inherit the trait experience some of the symptoms
completely penetrant
some do not express the trait
incompletely penetrant
the severity of expression in a penetrant trait
expressivity
production of different effects (phenotypes) from the same disorder (genotype)
pleiotropy
autosomal dominant; the expression of a defective elastic connective tissue protein (fibrillin)
marfan syndrome
production of the same effects (phenotypes) from different disorders (genotypes0
genetic heterogeneity
caused by one gene pair
monogenic traits
caused by a number of gene pairs
polygenic traits
caused by a number of gene pairs and the environment
complex traits
hormones limit the expression to one gender
sex-limited traits
an allele is dominant in one gender and recessive in the other
sex-influenced traits
the expression of a disorder varies depending on the parent from whom it was inherited
genomic imprinting
have too many sets of chromosomes (more than 2)
polyploidy
normal cells, also known as euploid; a good number of chromosomes
aneuploidy
have too many or not enough chromosomes
aneuploidy cells
means having an extra chromosome
trisomic
having only one of a pair of chromosome
monosomic
alters, replaces, silences, or augments a gene’s function to ameliorate or prevent symptoms
gene therapy
changes the genes of an egg cell or sperm cell to produce a zygote with different genetics. traits will be passed on
heritable gene therapy
targets specific cells or locations. traits will not be passed on
nonheritable gene therapy