Updated: 11/8/2017

Type of DNA Mutations

Topic
Review Topic
0
0
Questions
3
0
0
Evidence
5
0
0
Silent 
  • Exchange of one base for another results in same amino acid
    • often an alteration in 3rd position of codon
      • tRNA wobble
  • No change in protein function
Missense 
  • Exchange of one base for another results in changed amino acid 
    • transversion → exchanges a purine to a pyrimidine or a pyrimidine to a purine
      • e.g., C → A or G → T
    • transition → exchanges a purine for another purine or a pyrimidine to another pyrimidine
      • e.g., A → G or C → T
  • Variable change in protein function
    • if the new amino acid is similar to old (leu → ile) the protein will most likely function the same
    • if the new amino acid is different (glu → val) the protein folding/stability will likely be affected
  • e.g., sickle-cell anemia
    • glu → val mutation in β-globin gene
Nonsense 
  • Exchange of one base for another results in a stop codon
  • Loss of function mutation as peptide is truncated
Frameshift 
  • Deletion or addition of 1 or 2 bases resulting in misreading of all nucleotides downstream
  • Loss of function mutation as peptide is completely different
Large Segment Deletion
  • Unequal crossover at meiosis results in loss of large segment of DNA
  • Loss of function mutation
  • e.g., α-thalassemia 
    • deletion of α-globin gene 
Change at splice site
  • Alteration in base sequence at mRNA splicing site results in altered splicing
    • can remove parts of exon
    • can leave parts of intron
  • Variable effect on protein function as number of spliced amino acids varies
  • e.g., β-thalassemia
Triplet repeat expansion
  • Expansion of short nucleotide sequence results in longer polypeptide
    • can be in coding or noncoding region
  • Addition of amino acids affects protein structure/folding and affects function
  • Disease display anticipation
    • earlier disease onset in successive generations
  • e.g., myotonic dystrophy, Huntington's disease, and Fragile X
In-frame 
  • In-frame mutations 
 
 

Please rate topic.

Average 4.0 of 6 Ratings

Thank you for rating! Please vote below and help us build the most advanced adaptive learning platform in medicine

The complexity of this topic is appropriate for?
How important is this topic for board examinations?
How important is this topic for clinical practice?
Questions (3)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8-20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: ≤ 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, total, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70-110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
Provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm3
Female: 3.5-5.5 million mm3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c ≤ 6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Volume  
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Urine  
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m2
Calculator

(M1.BC.79) An 8-year-old girl is brought to the pediatrician because she is significantly shorter than her classmates. Her mother notes that she has had thick, oral secretions for the past several months, along with a chronic cough. Her exam is notable for clubbed fingernails. Her pediatrician sends a genetic test for a transmembrane channel mutation, which shows a normal DNA sequence, except for the deletion of three nucleotides that code for a phenylalanine at position 508. What type of mutation has caused her presentation? Review Topic

QID: 106895
1

Frameshift mutation

46%

(12/26)

2

In-frame mutation

27%

(7/26)

3

Nonsense mutation

15%

(4/26)

4

Triplet expansion

0%

(0/26)

5

Silent mutation

4%

(1/26)

M1

Select Answer to see Preferred Response

PREFERRED RESPONSE 2
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
ARTICLES (6)
Topic COMMENTS (12)
Private Note