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