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91 Cards in this Set
- Front
- Back
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Group of enzymes each of which cleaves double-stranded DNA at a specific nucleotide sequence and so produces fragments of DNA of different lengths.
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restriction endonucleases
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EcoR I cleavage site
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5'-GAATTC
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BamH I cleavage site
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5'-GGATCC
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An enzyme that catalyses the formation of a phosphodiester bond between a 3′-hydroxyl and a 5′-phosphate group in DNA, thereby joining two DNA fragments
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DNA ligase
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A union of two different DNA sequences from two different sources, e.g. a vector containing a ‘foreign’ DNA sequence
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recombinant DNA
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A plasmid, phage, or cosmid into which foreign DNA can be inserted for cloning
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vector
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insert size range of plasmids (circular and most common)
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up to 10kbp
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insert size range of bacteriophages
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10-15kbp
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insert size range of cosmids
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25-40kbp
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insert size range of BACs
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50-200kbp
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insert size range of YACs
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100-1000kbp
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making copies of the recombinant DNA using host organism
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cloning
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DNA fragment from organism/individual of interest, which will be joined to a vector
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insert
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organism that will replicate the recombinant DNA
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host
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process by which the recombinant DNA is put into the host
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transformation
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Technique for transferring DNA fragments from an agarose gel to a nitrocellulose filter on which they can be hybridized to a radiolabeled single-stranded complementary DNA sequence or probe.
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southern blot
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Electrophoretic separation of mRNA with subsequent transfer to a filter and localization with a radiolabeled probe.
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northern blot
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Electrophoretic separation of protein with subsequent transfer to filter and detection of specific proteins using antibodies.
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western blot
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the chromosome location of a specific gene or known DNA sequence
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Locus
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a locus in which two or more alleles have gene frequencies of 1% or higher in a population
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polymorphism
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a locus in which 99% of a population has the same sequence
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monomorphic
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polymorphism in a DNA sequence in which both the sequence and position is known (any difference in a DNA sequence that can be tracked)
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marker
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variations in the DNA sequences caused by the presence or absence of restriction sites. Results in differing DNA fragment sizes between individuals' DNA when digested with a particular (or set of) restriction endonuclease(s)
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Restriction Fragment Length Polymorphism (RFLP)
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a labeled substance (DNA segment or antibody) that is used to identify a gene, an mRNA transcript, or gene product (protein)
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probe
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portion of DNA that contains highly repetitive DNA sequences
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satellite DNA
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type of satellite DNA containing 1-13 bp repeat units in tandem; blacks of DNA hundreds of bp long [usually 2-5 bp repeats]
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microsatellites
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type of satellite DNA containing 14-500 bp repeat units in tandem; blocks of DNA thousands of bp long
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minisatellites
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the knowledge of how abnormal embryonic and fetal development results in abnormal changes (anomaly) in body form
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dysmorphology
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polydactyl
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extra digit
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pre-axial
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thumb side
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postaxial
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pinky side
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synophyrs
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1 eyebrow
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clinodactyly
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inward curved 5th digit
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syndactyly
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2+ fused digits
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single structural defect, not associated with a syndrome
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isolated anomaly
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2 or more defects in 2 or more systems
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multiple congenital anomalies or syndrome
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a recurring pattern of multiple congenital anomalies (or physical signs) representing a known etiology
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syndrome
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single event/anomaly the results in cascade effects and multiple malformations
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sequence
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a non-random occurance of multiply abnormalities NOT associated with a specific genetic etiology
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association
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centromere near the end of the chromosome, one arm is substantially smaller than the other
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acrocentric
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centromere near the middle of the chromosome, chromosome has two well defined arms
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metacentric
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centromere nearer to one end of the chromosome that the other
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sub-metacentric
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a chromosome map showing the relationship between short and long arms, centromere, and stalks
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idiogram
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Photomicrograph of chromosomes arranged in descending order of size.
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karyogram
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The number, size and shape of the chromosomes of an individual. Also used for the photomicrograph of an individual’s chromosomes arranged in a standard manner.
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karyotype
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The presence of a chromosome additional to the normal complement (i.e. 2N + 1), so that in each somatic nucleus one particular chromosome is represented three times rather than twice.
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trisomy
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Any multiple of the haploid number of chromosomes (3N, 4N, etc.).
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euploidy (polyploidy)
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A cell with three times the haploid number of chromosomes, i.e. 3N.
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triploidy
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What is the world's most visited museum?
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The Louvre. National Museum of Air and Space.
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DiGeorge syndrome is due to a microdeletion in which chromosome?
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22
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Williams syndrome is due to a microdeletion in which chromosome?
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7
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Cri du chat syndrome is due to a microdeletion in which chromosome?
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7
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Wolf-Hirschhorn syndrome is due to a microdeletion in which chromosome?
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4
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a chromosome with two short arms and no long arms
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isochromosome
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A structural rearrangement of the chromosomes in which material is exchanged between one homolog of each of two pairs of chromosomes. The rearrangement is balanced if there is no loss or gain of chromosome material.
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reciprocal translocation
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the loss of a DNA fragment from a chromosome
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deletion
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when two acrocentric chromosomes fuse at the centromere and both chromosomes lose their shore arms
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Robertsonian translocation
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the five acrocentric chromosomes
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13, 14, 15, 21, 22
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trisomies capable with postnatal survival
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13, 18, 21
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alternate forms of a gene
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allele
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different mutations (alleles) at the same locus causing a particular condition
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allelic heterogeneity
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a new mutation seen for the first time in a family
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de nevo mutation
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refers to a condition that is not apparent at birth, and may not manifest until adulthood
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delayed age of onset
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biological: an allele at one locus masking the expressions of an allele at another locus
statistical: pertains to interaction between two (or more) non-allelic genes |
epistasis
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the combination of alleles an individual has. Usually used to refer to a particular trait or condition
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genotype
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the association between a certain genotype and the resultant phenotype. In some conditions, certain types of mutations are associated with a milder form of disease than are other types of mutations
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genotype-phenotype correlation
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a mixture of cell types, some with a mutated allele and some with a wild type allele, in the germ cells
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germline mosaicism
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the occurrence of more than one mitochondrial type in the same cell, tissue, or individual
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heteroplasmy
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an individual who has two different alleles at a particular locus
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heterozygote
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this term usually refers to an individual with an autosomal recessive condition, but with each mutant allele having a different
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compound heterozygote
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having two two different alleles. In general, one of the alleles will be dominant to the other in a heterozygote
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heterozygous
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the existence of only one type of mitochondria in an individual
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homoplasmy
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an individual who has two identical alleles at a particular locus
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homozygote
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both alleles are exactly the same
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homozygous
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when an individual with a gene for a dominant trait does not show any evidence of being affected by that trait. The situation where an individual has inherited a mutant allele, but does not express it. This has an impact on the the ability to provide accurate genetic counseling
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incomplete penetrance
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location of a gene on a chromosome
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locus
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the situation where more than one gene can cause the same phenotype
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locus heterogeneity
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the observable characteristics of an individual. This usually refers to both genetic and environmental influence
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phenotype
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a situation where multiply parts of the body are affected by the gene mutation
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pleiotropy
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in females, one the X chromosomes is inactivated. The unusual situation is for one or the other X to be inactivated randomly, so that each X is active in approximately half of the cells
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random X-inactivation
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in this situation, one of the X chromosomes is preferentially inactivated, so that one X may be active in only 10% of the cells, whereas the other X is active in the other 90% of cells
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skewed X-inactivation
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a mixture of cell types in the body or a region of the body
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somatic mosaicism
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the degree to which a mutant allele is expressed
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variable expressivity
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A child has the following phenotype: severe developmental delay, small eyes (microphthalmia), cleft lip and cleft palate, polydactyly, a cardiac defect, and failure of proper brain development. What's the genetic cause?
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trisomy 13
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This results from the loss of a paternal gene on chromosome 15, either by a deletion on the paternal chromosome, or maternal uniparental disomy (could be either heterodisomy or isodisomy)of chromosome 15
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Prader-Willi syndrome
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What is the mode of inheritance of cystic fibrosis?
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autosomal recessive
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What is the mode of inheritance of Duchenne muscular dystrophy?
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X-linked recessive
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What is the mode of inheritance of Huntington's disease?
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autosomal dominant
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What is the mode of inheritance of sickle cell anemia?
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autosomal recessive
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Associated with cafe'-au-lait spots and axillary freckling
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Neurofibromatosis I
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Test reflective of inactivated X chromosome material, and thus only useful for diagnosis of sex-linked conditions
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Barr body analysis
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