HESP632 Final > Genetics > Flashcards

Genetics Flashcards

(43 cards)

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1
Q

What is a genome?

A
  • Complete set of genetic information, all the biologic information needed to build and maintain an organism
  • Comprises all of the organism’s DNA
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2
Q

What is an exome?

A
  • Protein coding portion of DNA

- ~1% of total genome

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3
Q

What is an intron?

A
  • Non-coding sections of a gene

- Important biologic functions

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4
Q

What is a nucleotide?

A
  • Nitrogen-containing base (A and G are purines; T and C are prymidines)
  • Sugar
  • Phosphate
  • Nucleotide strand forms a spiral (double helix)
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5
Q

What is DNA transcription?

A
  • mRNA takes coding to ribosomes where amino acids are formed
  • Each tri-nucleotide sequence = codon
  • 20 types of amino acids (each specified by codons)
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6
Q

What are amino acids?

A
  • Building blocks of proteins
  • Sequenced, linked to form proteins
  • Order of amino acids dictates protein shape and function
  • Proteins play a critical role in the body
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7
Q

What is a mutation?

A

-Change in a gene’s biochemical makeup, change at the DNA level

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8
Q

What is a mutagen?

A
  • A substance that causes a mutation

- EX: raidation

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9
Q

What is a mutant?

A

-An allele that differs from the mild type (normal or most common) allele, altering the phenotype

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10
Q

What is a spontaneous mutation?

A

-A genetic change resulting from the mispairing of bases during replication

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11
Q

What is a mutational hot spot?

A

-Most likely to happen when the nearby DNA is repetitive or symmetrical

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12
Q

What is a point mutation?

A

-Involving a single nucleotide in the DNA molecule

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13
Q

What is a missense mutation?

A
  • Change in a codon so that it codes for a different amino acid
  • EX of a point mutation
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14
Q

What is a nonsense mutation?

A
  • Changes a codon specifying an amino acid into a “stop” codon
  • Results in a shortened protein product
  • EX of a point mutation
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15
Q

What are deletion/insertion mutations?

A

-Involving >1 nucleotide

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16
Q

What is a frameshift mutation?

A

-Addition or deletion of bases that are not a multiple of 3 with disruption of the reading frame of the protein

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17
Q

What are examples of deletion/insertion mutations?

A
  • Frameshift mutation
  • Codon deletions and insertions
  • Expansion
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18
Q

What are the classifications of inheritance patterns?

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A
  • Chromosomal abnormalities
  • Mendelian inheritance (mongenic)
  • Non-Mendelian inheritance (digenic)
19
Q

What are types of Non-Mendelian Inheritance?

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A
  • Mitochondrial
  • Polygenic
  • Modifier gene
  • Multifactorial
20
Q

What are types of Mendelian Inheritance?

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A
  • Autosomal dominant
  • Autosomal recessive
  • Sex-linked (X- or Y-linked)
21
Q

What is aneuploidy?

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A
  • Abnormal # of chromosomes

- EX: sex chromosome aneuploidy, trisomy

22
Q

What are examples of chromosomal aberrations?

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A
  • Aneuploidy
  • Translocations
  • Deletions
  • Contiguous gene syndromes
  • Isochomosomes
  • Inversions
23
Q

What is heterogeneity?

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A
  • Several different genes result in one phenotype

- EX: deafness, blood clotting disorders

24
Q

What is phenocopy?

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A
  • An environmental factor mimics a genetic condition and results in the same phenotype
  • EX: hair loss from chemotherapy, mimics alopecia
25
What is pleiotropy?
- One gene (or a pair of genes) causes multiple phenotypic effects in the body - EX: Marfan syndrome
26
What is penetrance?
- The percentage of individuals who possess a dominant gene and express it - Incompletely penetrant (not every individual who has the genotype displays the phenotype)
27
What is variable expressivity?
-A genotype producing a phenotype that varies among individuals
28
Describe X-linked recessive inheritance.
- DFNX - M >>> F - No father-to-son transmission - All daughters of a male with the trait will be carriers - Carrier females: 50% chance to have sons with the trait, 50% chance to have carrier daughters - Trait may be transmitted trough a series of carrier females
29
What is mitochondrial inheritance?
- Trait is passed through maternal line only - All offspring of a mother with the disorder will inherit the trait - No children of a father with the disorder will inherit the trait - M = F - Reduced penetrance, variable expressivity, and pleiotropy
30
Describe the phenotype of nonsyndromic DFNA.
- Less severe than DFNB - Postlingual > prelingual - Sometimes hard to differentiate form environmental factors and aging - Genetically heterogeneous - SNHL - Progressive - ~70 DFNA loci - 35+ genes have been identified (some loci have more than one genes) - EX: DFNA6/14
31
Describe the phenotype of nonsyndromic DFNB.
- ~56% of prelingual hereditary HL - Predominantly: prelingual SNHL, bilateral, severe-to-profound, stable, all frequencies - Tendency to partner with another deaf person - >100 loci mapped - EX: GJB2
32
What are some genetic approaches to understanding auditory function?
- Gene regulation - Fluid homeostasis: gap junctions, ion channels, transporters - Junctional complex and tight junctions - Structural integrity - Synaptic transmission
33
What are some examples of syndromic hereditary HL?
- Alport syndrome - CHARGE - Branchio-oto-renal (BOR) syndrome - Stickler syndrome - Treacher Collins
34
What are the clinical features of Alport syndrome?
- Hematuria (blood in urine) - Nephritis with progressive renal failure - Eye abnormalities (i.e. cataracts) - Progressive SNHL with onset in late childhood to early adulthood
35
What is the inheritance pattern for CHARGE?
- Heterozygous mutations | - Genes: CHD7, SEMA3E
36
What is the inheritance pattern for Alport syndrome?
- X-linked - AR - AD - Genes: COL4A3, COL4A4, COL4A5
37
What are the clinical features of branchio-oto-renal (BOR) syndrome?
- SNHL, CHL, or MHL - Branchial pits, cysts, and/or fistulae - Renal dysplasia or aplasia - Malformed pinnae - Ear pits and/or tags
38
What is the inheritance pattern for BOR syndrome?
- AD | - Gene: EYA1
39
What are the clinical features of Stickler syndrome Type I?
- SNHL, occasionally CHL - Progressive myopia - Midface hypoplasia - Retinal detachment - Mitral valve prolapse - Degenerative joint disease
40
What is the inheritance pattern for Stickler syndrome?
- AD - Type I Gene: COL2A1 - Type II Gene: COL11A1 - Type III Gene: COL11A2
41
What are the clinical features of Treacher Collins syndrome?
- Malar hypoplasia - Malformed auricles - CHL - Ear tags - Downward slanting palpebral fissures - Lower lid coloboma - Mandibular hypoplasia - Macrostomia
42
What is the inheritance pattern for Treacher Collins syndrome?
- AD | - Gene: TCOF1
43
What temporal bone lesions can be identified with CT scan.
- EVA - Mondini dysplasia - Lateral canal dysplasia (CDH7) - Calcification of cochlea (CMV, meningitis)
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