Chapter 5 Flashcards
What percentage of spontaneous abortions have chromosomal abnormalities
50%
What percentage of newborns contain a gross chromosomal abnormality
1%
Will mutations in somatic cells cause defects in progeny
No
What is a single base nucleotide substitution
The base is changes, potentially resulting in the change of a single amino acid
What is a missense mutation
Single base mutation resulting in the change of amino acid
What is conservative amino acid base substitution
The change in amino acid is so similar, that the function of the protein causes little change
What is the amino acid sequence change that results in Beta-globin chain sickle cell anemia
CTC (GAG in mRNA) which is a glutamate —> CAC (GUG in mRNA) which is a valine
What is a nonsense mutation
The base change results in a stop codon
What is B0-thalassemia
Beta-globin chain is prematurely stoped due to nonsense mutation, resulting in immediate degradation
In the Beta-0 globin allele, what amino acid die the change occur and what amino acid stops
38 is the amino acid change and stops there resulting from a change to a stop codon
What is a frameshift mutation
Change in amino acid number (addition or deletion) of a nonmultiple of 3
What is the usual result of a frameshift mutation
Variable number of incorrect amino acids followed by a premature stop codon
Which bases do almost all trinucleotide repeats incorporate
Cytosine and Guanine
What type of mutation results in taysachs disease
Frameshift mutation (addition of 4 amino acids)
What type of mutation results in the blood allele Group O
Frameshift mutation from the addition of a single nucleotide
What are the conditions that are incorporated into single gene disorders with nonclassical patterns of inheritance
1) Triple-repeat mutations
2) mutations in mitochondrial DNA (mtDNA)
3) genomic imprinting and gonadal mosaicism
What does the term congenital mean
Means born with, but does not have to be familial (ex congenital syphilis)
What are virtually all Mendelian disorders
Mutations in single genes that have large effects
What percentage of non expressive recessive mutations arefamilial
80-85%
Sickle cell anemia is caused by what
Substitution of normal hemoblobin (HbA) with hemoglobin S (HbS)
Under which conditions with a heterozygous individual for sickle cell express the RBC sickling (aka sickle cell trait)
Under lower oxygen tension
What are two examples of codominance
Blood group compatibility and MHC
What is pleiotropism
A single gene mutant leads to many effects
What is genetic heterogeneity
Mutations at several genetic can produce the same trait