2450 wk1 Flashcards
what is the smallest functional unit in directing cell function
DNA
What does DNA stand for and describe structure
DeoxyriboNucleic Acid, structure: phosphoric acid and a deoxyribose sugar make up the backbone and nitrogenous base pairs make up the rungs
name two types of base pairs and what makes them different and which base pair binds with the other
purines (adenine and guanine) double carbon rings
pyrimides (cytosine and thymine) single carbon ring
base pair bonding A=T & G=C
func of genes (describe the genes to end product sequence)
are groupings of base pairs that are used to form an end product of a protein to dictate cellular funtioning
genes -> amino acids -> polypeptide chains -> proteins
explain the difference b/w gamete and somatic cell
gamete- sex cell (reproductive) 1 set of chromosomes (23)
somatic cell- tissue cells that are non-repro and 2 sets of chromo (46)
describe structure of chromosome
centromere - center of chromosome
p arm- short arm
q arm- long arm
how is DNA replication accomplished and what is different to the structure used
RNA (single stranded version of DNA) is used in replication contains same nitrogenous pairs except thymine is replaced by uracil (A=U G=C)
Location of transcription and steps
nucleus, DNA acts as template to make a copy or a compliment base pair (messenger RNA mRNA)
- DNA opens up b/c of RNA polymerase (enzyme)
- RNA polymerase binds to promoter ( a copy from here) site until it reaches termination sequence
- mRNA reads the base in sets of three (codon)
- RNA polymerase releases DNA and mRNA leaves nucleus
what are exons and introns
exons: sections of the sequence that will express gene
introns: sections that interrupt
what is RNA splicing (give AKA)
post-transcriptional modification (AKA) the introns are removed to reveal a mature mRNA molecule
what is translation and where does it occur and what does it use
translation is the process that tRNA directs synthesis of polypeptide
occurs on ribosome using rRNA
describe tRNA structure
allows for it to complimentarily bind with mRNA (binds to mRNA codon with anti-codon) and has a site for attachment of an amino acid
what are they different protein structures and give description
primary (all amino acids assembled) resembles strand of pearls
secondary - twisting
tertiary- folding
quaternary- further building ex:hemoglobin
give an important proof-reading mechanism in translation
DNA polymerase
define apoptosis and what condition inactivates this process
programmed cell death when a cell realizes that damage has been done to chromosomes or incorrect DNA replication, often inactivated by cancer
define redundant DNA, give AKA and what percentage it makes up of DNA and why it is significant
non-coding regions (Desert DNA) 95%, vary in codon sequence from person to person is the part used for identification
what are different types of mutation
silent point- makes no difference
missense point- minor or sever problem (sickle cell)
nonsense point- early stop signal, truncated or ineffective protein (large or small problem)
frameshift mutation: insertion, deletion, reading frame shift
what is translocation give example of consequence of this process
when one piece of chromosome trades info with another
ex: chronic myelogenous leukemia and philadelphia chromosome
define allele locus heterozygous homozygous
allele: alternative form of a given gene (brown blue grey green eyes)
locus: position of a gene on a chromosome
heter: carrying two different alleles for a gene
homo: carrying 2 of the same allele for a gene
define genotype, genome, phenotype, karyotype
genotype: a person’s genetic code
genome: complete set of genes in a human,
phenotype: recognizable traits of a particular genotype
karyotype: an individual’s pictorial chromosomal make up
define expressivity penetrance epigenetic
expressivity: level that a gene is expressed in a phenotype which can be moderate to severe
penetrance: ability of a gene to represent itself
epigenetic: heritable expression of genes; excluding nucleic acids
mendel’s 2nd law
principle of independent assortment: the emergence of one trait will not affect the emergence of another (blue eyes does not mean you will have blonde hair)
mendel’s first law
principle of segregation when forming gamete cells each member separates in such a way as to give only one allele to each cell