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81 Cards in this Set

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  • Back
Chromosome missegregataion that my lead to aneuploidy is known as ___ mutation
genome
What type of mutation can result in a translocation?
chromosome mutation
A nonsense mutation leads to a premature _____
Stop codon
If a purine is mutated to another purine is this a transition or transversion mutation?
transition
Is a GC to AT mutation a transition or transverion mutation?
transition
Can a mutation in an intron affect gene expression?
Yes, for example an abberrant splice site may be generated
Does UV light cause pyrimidine or purine dimers?
pyrimidine
What is the most common mutation caused by UV light?
TT dimers, but don't cause the mutations associated with UV damage due to A rule
What is the A rule/
Put a A where there is a lesion. This leads to less chance of mutation because most lesions are TT dimers
If you deaminate cytosine you get ____
uracil
however if you deaminate methylated cytosine you get thymidine which is much less easy to repair and can cause mutations
Which enzyme recognizes T to G mutations caused to cytosine deamination?
TDG enzyme
Misalignment, homologous recombination due to very similar tandem repeats is a characteristic of what thalessemia?
alpha thalessemia, leads to lower expression of the alpha gene
A silent carrier has what percentage of expression of their alpha gene?
75%
Deamination of cytosine to uracil can be removed by what enzyme
uracil-DNA glycosylase
Is beta-thalessemia recessive or dominant?
recessive
Can Southern Blotting detect very small base pair abnormalities?
NO
Is the restriction enzyme added before or after the addition of the probe in Southern blotting?
before
Does cDNA contain introns?
No
Can allele specific oligonucleotides detect single base pair mutations?
Yes
What are rare variants?
alleles that are in less than 1% of pop
RFLP are part of a class of polymorphisms known as ____
single nucleotide polymorphisms (SNPs)
Variable number of tandem repeats differ in the number of ___
minisatellites
A mutation in a structural protein usually results in a dominant or recessive mutation?
dominat
A mutation in an enzyme or a metabolic pathway will usually results from a dominant or recessive mutation?
recessive
Is Osteogenesis Imperfect dominant or recessive?
dominant
If a parent carries a mutated gene but does not express it the gene is said to be non-penetrant. True or False?
True
If some spontaneous mutation occurred in germ line cells, would this mutation be transmitted to offspring?
Yes
OI is caused by a mutation in ____
collagen
Is albinism dominant or recessive transmission?
recessive
What enzyme is defective in albinism?
tyrosinase
Type I mutations in fibrillin are usually caused by what type of mutations?
frameshift--> lead to less gene product being produced
Is melanin produced with no tyrosinase activity?
No
What AA the precursor for melanin?
tyrosine
A substitution of leucine for ____ accounts for 20% of albinism cases
proline
The existence of various mutations in different individuals with the same disorder is called _____
genetic heterogeneity
If you know the phenotype and find the gene following the phenotype is this forward or reverse genetics?
forward genetics
The gene for CF is located on what chromosome?
7
There is excessive amount of ____ in sweat of CF patients
NaCl
A situation in which alleles are on opposite members of a pair of chromosomes is referred to as ____
repulsion
Are linked genes usually copied or repulsed?
they are usually in coupling
If theta=0 are genes completely linked or completely unlinked
linked
The closer the LOD score is to 1, is the gene more or less likely to be linked compared to a lod score of 3?
less likely to be linked
Evidence of linkage is accepted when the lod score is greater than ____
3
If the marker is 3 cM from the disease gene then the risk of disease in individuals who have the marker is ___
1-0.3 or 97%
The particular combination of alleles on one copy of the chromosome is referred to as a _____
haplotype
Is linkage disequilibrium more commonly seen with HLA genes?
Yes, a combination of certain haplotypes gives selective immunity to individuals
In ________, the DNA of interest is identified, cut into fragments with restriction enzymes, and circularised
chromosome jumping
In a Zoo blot, if a gene is highly conserved will you see lots or very little hybridization?
lots
CFTR transports chloride in or out of cell?
out
CF involves the deletion of a _____ residue
phenylalanine
Do YACs have centromeres and telemeres?
yes
STS only hybrizdize to one site on the genome --> act as an indentification tag of the clone. True or False?
True
Is myotonic distrophy dominant or recessive?
dominant
When expression becomes more severe from generation to generation we call that ____
anticipation
Individuals with myotonic dystrophy display too many _____ repeats
CTG
Wofle-Hirschhorn Syndrome results from a deletion in the short arm of chromosome ___
four
Wide eyes, large ears, prominent nose, and bilateral iris colobomas are characteristic of what disease?
Wolfe-Hirschhorn Syndrome
Chromosomes are more easily visualized at _____
metaphase
_____ saline solution causes cells to swell up, allowing for visualization of chromosomes better
hypotonic
People who are XXY are said to have what syndrome?
Klinefelter Syndrome
Trisomy 13 is _____
Patau syndrome
Addition of ____ inhibits mitotic spindle formation at metaphase
colchicine
Chromatids remain attached at the ____
centromere
Chromosomes that end to have a very short p arm are called ____
acrocentric
With Giemsa binding are GC regions dark or light?
light
When treated with _______ the chromosome opens
ethidium bromide
If the sum total of DNA is normal but there is translocation what kind of translocation is that?
balanced translocation
Non-disjunction during mitosis leads to _____
mosaicism
Which type of inversions does not contain the centromere? paracentric or pericentric?
paracentric
Translocations between acrocentric chromosomes in which long arms fuse at the centromere is known as ______ translocations
Robertsonian
For FISH a centrometric probe is usually used as a control probe. True or False?
True
What syndrome is caused by absence of parathyroid glands and immunodeficiency?
DiGeorge's Chr. 22
_______ occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent
uniparental disomy
Uniparental disomy of ch. 15 from the mother gives what disease?
Prader Willi Syndrome
The fragile X site is only seen if cells are grown in a medium deficient in ____ and ____
thymidine and folic acid
Do individuals who suffer from DMD have high serum creatinine phosphokinase?
Yes due to muscle breakdown
What type of genetic transmission is characterized by the fact there is no male to male transmission?
X-linked recessive
Methylation of ____ dinucleotides leads to X-inactivation
CpG
Is the Xist gene expressed on the active or inactivated X gene?
inactivated
Mutations in ____ are responsible for DMD
dystrophinin
Absence of dystrophinin predicts _____, presence of dystrophin but with aberrant function predicts _____
DMD
Becker