Last Week: Patterns of Inheritance/Genetic Testing Tools Flashcards
father of classical genetics (worked w/ green peas)
gregor mendel
do autosomal dom and autosomal rec follow mendel’s laws
yes
does ABO (codominant) follow mendel’s laws
nope
does polygenic inheritance follow mendel’s laws
no
what does the x-linked dom and rec trait involve?
gender related inheritance
environment factors __ the way we express __ and alters the pheonotype
- also disproves mendel’s laws
influence; our genes
karyotype
indiv complete set of chromosomes (shows arrangement of chromosomes in nucleus)
- can be used to show abnormalities in chromosomes
how many chromosome pairs do we have?
23 pairs = 46 chromosomes
how many autosomal pairs do we have?
22 pairs (chromosomes 1-22)
the 23rd pair is responsible for what
determines gender
our parents EACH give us what
23 sets of chromosomes from male gamete (sperm cell) and 23 sets of chromosomes from female gametes (egg cell)
Humans are what?
diploids (2 sets of chromosomes: 1 from MOM/1 from DAD)
gametes are what?
haploid (1 set: either egg cell or sperm cell)
w/ dna sequence, what would happen?
no transcription/translation to express particular protein in our body)
_- are the source of alleles
mutations (all alleles originally arose ad mutations)
mutations are?
changes in sequence of nucleotides in the dna of a gene
if both chromosomes are carry the same allele of a gene at a locus =
homozygous
if each organism carries a diff allele of this gene =
heterozygous
inheritance
process by which the traits of organisms are passed to their offspring
genes
sequences of nucleotides at specific locations on chromosomes; segments of dna that encode info needed to construct an organism
chromosomes
carries hereditary info in the form of genes; defining feature of a chromosome in its compactness
locus/g-locus
gene’s physical location on a chromosome (gene map)
alleles
any 1 of 2/more genes that can coocur alternatively at a given site (locus) on a chromosome
- 1 of the diff forms of a gene that can exist a single locus
- may occur in pairs/multiple alleles affecting the expression (phenotype)
alleles depend on what factors?
genes/environmental
genotype
genetic constitution of the indiv made up of alleles present at each genetic locus; can be represented by actual dna sequence ata a specific location (ex: CC, CT, TT)
phenotype
observable traits determined by indiv’s genotype/environmental factors
- even insulin/dopamine/bloodtype can be phenotypes
gene expression is __ when only 1 of 2 copies of a gene is active and the other is silent
monoallelic
__ chromosome is inactive in females
X
when both alleles of a gene are transcribed this is known as __
bi-allelic expression
the __ chromosome is active in males
X
a dominant allele only needs __ copy to be present
1
a recessive allele needs __ copies to be present
2
in hungtinton disease, which is a __ mutation, the indiv will get the diease regardless of what their other allele is
dominant
examples of autosomal dominant mutations
huntington’s disease; neurofibromatosis; achondroplasia; familial hypercholesterolemia; etc…
autosome is?
1 of the 22 numbered pairs of chromosomes that most of us carry in almost all cells of our body
spontaneous mutation
mutation happens for 1st time in indiv
examples of autosomal recessive mutations
tay-sachs disease; sickle cell anemia; cystic fibrosis; phenylketonuria; etc…
a punnet square represents the probability of __ from diff gamete fusions in a specific cross
progeny/zygotes
what causes sickle cell?
glutamic acid –> valine (hydrophobic acid) –> curls and makes hemoglobin
- sickle shape carries less oxygen
codominance
more than 1 dominant allele for same gene is present
there are __ allels in ABO blood type
3: A, B, O
A= dominant
B= dominant
C= recessive
x-linked dom
affected MALES and FEMALES if mom is affected
x-linked recessive
MALES more affected if mom is affected
fathers can’t pass __ to their sons
x-linked traits (can only get them from MOM)
the royal family had __ which is an x-linked recessive disorder
hemophilia (blood clots that = abnormal bleeding)
- more common in MALES
polymerase chain rxn
kary mullis discivered this which amplified dna and is helpful in detecting a gene
a heat stable dna polymerase __ is an enzyme isolatedfrom the thermophilic bacfterium thermus aquaticus (which inhabits hotspring)
Taq
PCR is used to diagnose
genetic disease/detect low levels of viral infection
rt-qpcr
assesses gene expression by measuring the abundance of certain rna
- NOT PRODUCED BY HUMANS
- produced by special kind of rna viruses (ex: HIV)
rna is 1st __ into cdna by reverse transcriptase enzyme and used as template for qpcr amplification
1st reverse-transcribed
a virus mutates __ due to
slowly; low fidelity rate in polymerase, a small genome, rapid replication cycle, less introns
__ is removed to create a di-deoxy nucleotide
3’OH
- happens when we have sugar and phosphate but no dna
- stops adding more nucleotides
- used to find unknown dna sequence
__ testing is used in paternity testing/resolving family-based immigration issues
dna fingerprinting
dna fingerprinting?
method of isolating and identifying varibale elements w/in the base-pair sequence of dna
- uses VNTRs (large on top/small on bottom)
