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Medical Genetics — Minimals > SCT II > Flashcards

SCT II Flashcards

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USMLE® Step 1 flashcards Biology 101 flashcards
1
Q

Cloning

A

Production of many identical copies of a DNA sequence, a cell, or a whole organism.

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2
Q

Next-generation (massively-parallel) sequencing

A

A collection of methods for very high-throughput DNA sequencing by sequencing many molecules in parallel.

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3
Q

Single nucleotide polymorphism (SNP)

A

A position in the genome where two or occasionally three alternative nucleotides are common in the population.

May be pathogenic or neutral. The dbSNP database lists human SNPs, but includes some rare pathogenic variants and some variants that involve two or more contiguous nucleotides.

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4
Q

Exome

A

The totality of exons in a genome.

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5
Q

Genome

A

The total set of different DNA molecules of an organelle, cell, or organism.

The human genome consists of 3.1 × 109 bp of DNA divided into 25 molecules, the mitochondrial DNA molecule plus the 24 different chromosomal DNA molecules.

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6
Q

OMIM

A

The Online Inheritance in Man data base at:

https://www.ncbi.nlm.nih.gov/omim

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7
Q

PMID

A

PubMed identifier, a unique number, currently eight digits in length, assigned to a biomedical literature article at:

https://www.ncbi.nlm.nih.gov

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8
Q

Conserved sequence

A

A sequence (of DNA or sometimes protein) that is identical or recognizably similar across a range of organisms.

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9
Q

Pathogenic

A

Causing disease.

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10
Q

mtDNA

A

Mitochondrial DNA.

DNA of the 16,569 nt mitochondrial genome.

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11
Q

Pharmacogenetics

A

The study of the influence of genetic factors on the response to drugs.

Divided into pharmacokinetics (the absorption, activation, catabolism, and elimination of a drug) and pharmacodynamics (the response of a target organ or cell to a drug).

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12
Q

CpG

A

In DNA, cytosine followed by guanine (the p represents the phosphate linking them).

CG sequences occur symmetrically on both strands and are targets for DNA methylation.

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13
Q

CpG island

A

Short stretch of DNA, often < 1 kb, containing frequent unmethylated CG dinucleotides.

CG islands tend to mark the 5’ prime ends of genes.

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14
Q

Reading frame

A

During translation, the way the continuous sequence of the mRNA is read as a series of triplet codons.

A correct reading frame is set by correct recognition of the AUG initiation codon.

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15
Q

Open reading frame

A

A DNA sequence that does not contain a stop codon in a selected reading frame.

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16
Q

Stop codon

A

In mRNA, a UAA, UAG, or UGA triplet.

When the ribosome encounters an in-frame stop codon it dissociates from the mRNA and releases the nascent polypeptide.

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17
Q

Start codon

A

In mRNA, the AUG codon at which the ribosome initiates protein synthesis.

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18
Q

Conserved sequence

A

A sequence (of DNA or sometimes protein) that is identical or recognizably similar across a range of organisms.

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19
Q

Transgenic

A

An animal or cell containing an artificially inserted gene (or other exogenous DNA).

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20
Q

Primary cell cultures

A

Are cells isolated directly from intact or dissociated tissues or from organ fragments and grown in a dish.

21
Q

Gene targeting

A

Targeted modification of a gene in a cell or organism using some type of genome editing.

22
Q

Gene knockout

A

The targeted inactivation (deletion) of a gene within an intact cell.

23
Q

Gene knock-in

A

A targeted mutation that replaces activity of one gene.

24
Q

Expressed sequence tag (EST)

A

Short partial sequences of cDNAs that can be used to follow gene expression or to isolate a full-length cDNA.

25
Q

Epigenome

A

The overall epigenetic modifications of cells. An organism has multiple, cell-type specific epigenomes which may change in time.

26
Q

Epigenetic marks

A

Chemical additions to the DNA and histones that can be stably maintained and do not change the primary DNA sequence.

These marks are reversible. new stimuli can over-write them.

27
Q

Epigenetic inheritance during the cell cycle (cell-cell information transfer)

A

Epigenetic inheritance concerns the mechanisms that ensure transmission of epigenetic marks from mother to daughter cell.

28
Q

Mutation

A

(1) The process of DNA sequence change.

(2) The resultant changed sequence.

29
Q

DNA repair

A

Correcting lesions in DNA caused by mistakes during replication or by external agents such as radiation or chemicals.

30
Q

Homologous recombination

A

(1) The normal recombination that is part of meiosis.

(2) A mechanism for repairing DNA damage.

31
Q

Polymorphism

A

Strictly, the existence of two or more variants (alleles, phenotypes, sequence variants, chromosomal structure variants) in the population at frequencies too high to be maintained by recurrent mutation.

Looser usages among molecular geneticists include:

(1) a sequence variant present at a frequency
>1% in a population.

(2) a non-pathogenic sequence variant, regardless of frequency.

32
Q

Inversion

A

A sequence variant in which a stretch of sequence (which may be anything between a few dozen nucleotides and a large segment of a chromosome) is present in the opposite orientation to the normal.

33
Q

Copy number variant (CNV)

A

Variation between individuals in the number of copies of a particular.

DNA sequence in their genomes. Normally used only for relatively large changes (e.g. >50 nucleotides).

34
Q

De novo mutation

A

A mutation that is present in an individual but not in DNA samples obtained from their parents.

35
Q

Mosaic

A

An individual who has two or more genetically different cell lines derived from a single chromosome.

36
Q

Epigenetics

A

The discipline studying reversible and heritable changes in gene expression, which are independent of the DNA sequence.

37
Q

Transgenerational epigenetic inheritance (organism-organism information transfer)

A

The transmission of epigenetic markers / signals from one organism to the next (from parent to child) that affects the traits of offspring without altering genome sequence.

Organism-organism information transfer.

38
Q

Processes regulated by epigenetic marks and signals includes:

A
  1. Imprinting
  2. X-chromosome inactivation
  3. Cell-cell information transfer
  4. Trans-generational epigenetic inheritance
  5. Differences between monozygotic twins
  6. Changes by diet-induced epigenetic alterations

The differences may be point mutations, chromosomal changes, etc.

39
Q

Nonsense mutation

A

A mutation that replaces the codon for an amino acid with a termination codon.

40
Q

Missense changes

A

Changes in a coding sequence that
cause one amino acid in the gene product to be replaced by a different one.

41
Q

Nonsynonymous substitution (or mutation)

A

One that replaces one codon by another that specifies a different amino acid.

42
Q

Frameshift mutation

A

A mutation that alters the triplet reading frame of a mRNA (by inserting or deleting a number of nucleotides that is not a multiple of 3).

43
Q

Hardy-Weinberg distribution

A

The simple relationship between allele frequencies and genotype frequencies that is found in a population under certain conditions.

44
Q

Allele frequency

A

The proportion of all alleles at a locus that are the allele in question.

45
Q

Inbreeding

A

Marrying a blood relative. The term is comparative, since ultimately everybody is related.

The coefficient of inbreeding is the proportion of a person’s genes that are identical by descent.

46
Q

Founder effect

A

High frequency of a particular allele in a population because the population is derived from a small number of founders, one or more of whom carried that allele.

47
Q

Consanguinity

A

Where two individuals, normally mating partners, share one or more identifiable recent common ancestors

48
Q

Haplotype

A

A series of alleles found at linked loci on a single chromosome.

Medical Genetics — Minimals (2 decks)

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