LECTURE V Flashcards
CHECK ON LEARNING
what is the basis for single gene expression?
mendelian trait based on Gregor Mendel
dominant and recessive alleles
recombination of alleles in union of gametes
autosomal vs x-linked locus
this type of autosomal inheritance is expressed in all individuals with allele, both heterozygous or homozygous, both males and females affected equally, clinically the disorder is usually more severe in homozygous
autosomal dominant
this type of autosomal inheritance is expressed only in individuals that are homozygous recessive for the allele, heterozygous individuals are unaffected but are carriers, clinically, the disorder is only expressed when two carriers mate, an example being Haemophilia A/C, resulting in red-green color blindness
autosomal recessive
this type of x-linked inheritance is expressed in all individuals with the allele, both males and females are equally affected, no sons of an affected male mating with a heterozygous unaffected female would shoe the trait but all daughters would?
x-linked dominant
this type of x-linked inheritance is expressed in all males with allele but only in females who are homozygous, sons not affected but daughters are, lionization can affect females manifesting a degree of the condition
x-linked recessive
what are the outcomes of SNP and SNP variation outcomes?
single nucleic acid base mutation in the gene sequence
easiest form of gene polymorphisms
most DNA polymorphisms are single nucleotide mutations
Occur in introns or eons
also not uniformly distributed
SNP recognized by SNPEDIA
what is significance about the flu and vaccinations developed for flu season?
its based on a ratio where if its closer to 1, this creates a divergent sequence that creates a unique strain of the flu and so there is an increased susceptibility to falling ill. When we calculate the ratio, the closer to zero the decrease chance of getting sick.
*herd immunity prevents individuals not immunized from getting sick
what should we keep in mind of variants and the associated phenotypes?
the clipping of nucleotides affects phenotype drastically
what type of inheritance is sickle cell anemia?
autosomal recessive, glutamic acid is swapped for a valine so an acidic for hydrophobic
what is mutated in sickle cell anemia?
in the beta globulin protein causing them to stick together forming long fibers that do not carry oxygen, this contrasts with alpha and beta globulins combining to make hemoglobin
what is implicated in protecting those with sickle cell trait to malaria?
heme oxygenase-1 (HO-1)
this type of disease is also known as inherited cancer syndrome (autosomal dominant) and predisposes patient to several malignant and benign cancers
von hippel-landau disease affecting gene VHL
how do we determine the chance of getting autosomal dominant trait?
age x penetrance
T/F, outside forces do affect gene frequency in the population
T
what are some forces that impact equilibrium?
mutations preferential mating mortality infertility immigration and emigration chance fluctuations
what are the differences that can develop between gene pools?
meiotic assortment of DNA to gametes
random assortment
recombination
development and persistence of mutations
failure of repair mechanism
development of a selective advantage
development of a selective disadvantage
what can we determine if we know the frequency of a homozygous recessive trait in the population?
we can determine the frequency of the recessive allele, the carriers and thus risk of producing offspring with homozygous recessive disorder
genetic disorders observed in enzymes?
PKU, Tay Sachs
genetic disorders observed in transport proteins and ions?
Cystic fibrosis
genetic disorders in the structure of cells and organs?
Ehlers-Danlos Syndrome
this is a single gene disorder in which the conversion of excess Phe to Tyr doesn’t occur?
what are some signs and symptoms?
Phenyketonuria, autosomal recessive disorder, PAH gene affected in which there is an arginine to tryptophan switch
neurocognitive disorder
hypopigment disorders
odors
