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Pathophysiology chap 2
30 cards·by kayleeallen27
what are the 3 basic components of dna
1. 5 carbon monosaccharide deoxyribose 2. phosphate molecule 2. 4 types of nitrogenous bases
(ACTG)
which nitrogenous bases are the pyrimidines
C and T
which nitrogenous bases are the purines
A and G
what is the structure of DNA
the double helix; A goes to T, G goes to C
what is the function of DNA
directs the synthesis of all the body's proteins, and genes tell a cell how to function and what
traits to express
what are somatic cells
all cells other than gametes, each somatic cells nucleus has 46 chromosomes in 2 pairs
what are gametes
sperm and egg cells
what are autosomes
the 22 homologous pairs of chromosomes in both males and females
what are sex chromosomes
the remaining pair of chromosomes that consists of 2 homologous X chromosomes in females and
the nonhomologous XY pair in males
what are the bases of DNA that make up the genetic code
Adenine, Thymine, Guanine, Cytosine
what do chromosomes contain
genes
how many chromosomes do humans have?
46 chromosomes (23 pairs)
what percentage of DNA is shared with humans with the slight variations of SNPs
99.5%
what is a silent substition
mutation that does not change amino acids
what is a frameshift mutation
insertion or deletion of one or more base pairs of the DNA molecule (greatly alter the amino
acid sequence)
what is a mutagen
increase the frequency of mutations (radiation, chemicals such as nitrogen mustard, vinyl
chloride, formaldehyde, and sodium nitrate)
tracing genealogy
trace the father's side through the y chromosome and the female genealogy through paternal
haplogroup
what is a sex limited trait
can only occur in one sex often because of anatomic differences. (ex. uterine and testicular
defects)
what are sex influenced traits
occurs much more often in one sex than the other. (male pattern baldness)
what is multifactorial inheritance
when environmental factors influence the expression of the trait (ex. IQ)
what is a single nucleotide polymorphism (SNP)
DNA sequence variation occurring commonly within a population
what is transcription
RNA is synthesized from a DNA template forming MRNA
what is translation
RNA directs the synthesis of a polypeptide interacting with TRNA
what is a phenotype
the outward appearance of an individual due to genotype and environment
what is a genotype
the composition of genes at a given locus
where is the cell chromosome found
in the nucleus of each cell
what does x-linked recessive mean
to be expressed a female must be homozygous, seen more often in males. never transmitted
fromfather to son (both parents are affected)
what does sex linked mean
caused by mutations in genes located on the sex chromosomes
produce a change in a single amino acid
missense muations
produce one of the 3 stop codons in the messenger RN
nonsesnek