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MODX > Molecular Biology and Diagnostics > Flashcards

Molecular Biology and Diagnostics Flashcards

(50 cards)

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1
Q

follows a dominant and recessive pattern.

A

INHERITANCE PEDIGREE

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2
Q

recurrence risk

A

PUNNETT SQUARE

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3
Q
  • _______________ - Genes carrying the mutation.
    o Typically equal frequency for being affected.
A
  • AUTOSOMES (chromo 1-22)
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4
Q
  • one normal gene (wild type)
  • one abnormal gene (mutation)
A

HETEROZYGOUS

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5
Q

• ____________ - inherited two genes with same mutation.
• ___________ – one gene from parent
• ___________ – two gene from each parent

A
  • HOMOZYGOUS
  • Dominant
  • Recessive
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6
Q
  • ____________ – result from the interaction of multiple genetics and environmental factors.
  • Some are cause by alterations of a single gene
A
  • PHENOTYPE
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7
Q

PATTERN OF INHERITANCE / TRANSMISSION PATTERN

A
  • Determine by examination of family history
  • Uses pedigree
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8
Q

PATTERN OF INHERITANCE / TRANSMISSION PATTERN
Three patterns:

A

▪ AUTOSOMAL DOMINANT
▪ AUTOSOMAL RECESSIVE
▪ X-LINKED RECESSIVE (SEX-LINKED)

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9
Q

AUTOSOMAL RECESSIVE DISEASES

A
  • CYSTIC FIBROSIS
  • HEREDITARY HEMOCHROMATOSIS
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10
Q
  • Gene on___ – defective gene
  • Codes for the __
  • Over 1300 mutations have been identified.
  • __ - most common mutation, a three–base pair deletion
A

CYSTIC FIBROSIS
- chromosome 7
- cystic fibrosis (CF) transmembrane conductance regulator protein (CFTR)
- delta-F508

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11
Q

Phenotypic expression will vary based on mutation.

A

cYSTIC FIBROSIS

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12
Q

__________________ - part of initial diagnosis
Life threatening
Severe lung damage (respiratory failure)
Nutritional deficiencies

A

CYSTIC FIBROSIS
SWEAT CHLORIDE TEST

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13
Q

Earlier detection (genetic analysis) – can live more
comfortably (survive for decade)
Px produces secretion – too thick and sticky (sputum and
other body fluids)  has defective gene that causes their gene
to be too thick and sticky

A

CYSTIC FIBROSIS

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14
Q

CYSTIC FIBROSIS Detected through:

A
  • PCRRFLP
  • Single strand confirmation polymorphism
  • Invader (cleavage based assay)
  • Bid-array (micro-array)
  • Direct sequencing action
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15
Q
  • Excess iron absorption
  • ___- treatment of choice
  • Several common base substitutions in __ have been found
A

HEREDITARY HEMOCHROMATOSIS
- THERAPEUTIC PHLEBOTOMY
- HFE gene

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16
Q

Several common base substitutions in HFE gene have been found
1
2
3

A
  • G to A at amino acid 282 (C282Y) – most common (thru PCRFLP)
  • C to G in exon 63 (H63D)
  • A to T in codon 65 (S65C)
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17
Q

Individuals with mutations may be asymptomatic because of
incomplete penetrance
Excess iron accumulation in  ,,_
Characterized by:
1
2

A

HEREDITARY HEMOCHROMATOSIS
- pancreas, liver, skin
o Px with heart disorder
o Px with diabetes

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18
Q

Diagnose by making measurement of blood iron levels

A

HEREDITARY HEMOCHROMATOSIS

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19
Q

 cause by disfunctioning of HFE or
HLA-H gene

A

HEMOCHROMATOSIS

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20
Q

AUTOSOMAL DOMINANT DISEASES

A
  • FACTOR V LEIDEN
  • HUNTINGTON’S DISEASE
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21
Q
  • Hereditary hypercoagulability (too much coagulation)
  • __ - on chromosome __
    > mutation is __
Study These Flashcards
A

FACTOR V LEIDEN
- FACTOR V GENE
- 1 (1q23)
- 1691 A-G (R506Q)

22
Q

increase risk for thrombosis

Study These Flashcards
A

FACTOR V LEIDEN

  • ORAL CONTRACEPTIVES
23
Q

FACTOR V LEIDEN
Mutations detected by many platforms, including:

Study These Flashcards
A
  • Invader (cleavage based assay)
  • PCR followed by electrophoresis
  • Real-time PCR using melting curve analysis
24
Q
  • Late-onset neurodegenerative disorder
    Described by __
Study These Flashcards
A

HUNTINGTON’S DISEASE
- GEORGE HUNTINGTON (1872)

25
(too much repetition of CAG) Expansion of CAG - Normal repeat range from__ - Repeats of __ = mutable - Repeats of __ = reduced penetrance (not totally manifest as HD) - Repeats of __ = associated with disease
HUNTINGTON’S DISEASE TRINUCLEOTIDE REPEAT - 10 to 27 copies (CAG) - 28 to 35 - 36 to 39 - - 40 or greater -
26
Signs and symptoms - Impaired judgement - Slurred speech - Difficulty in swallowing - Abnormal body movement (__) - Personality changes - Depression - Mood swing - Unsteady gate - Intoxicated appearance - Onset in __ - do not become obvious (until _ of life)
HUNTINGTON’S DISEASE - chorea - 30s-40s - 4-5th decade
27
X-LINKED DISEASES
- HEMOPHILIA A - DUCHENNE’S MUSCULAR DYSTROPHY - FRAGILE X SYNDROME
28
* Females are carriers and usually not affected. * Males will receive the mutated gene only from their mother and will be affected - __. * Many cases are due to new mutations.
X-LINKED DISEASES - HEMIZYGOUS
29
* Deficiency of __ - encoded in 10 chromo (x chromo) * X-linked recessive * Mostly male cases, but female cases have been reported Female - related to skewed chromosomal error in chromosome __ Female cases - involves__ DETECTED THRU: - __– inversion mutation - If inversion mutation is negative - ___
HEMOPHILIA A - coagulation factor VIII (FVIII) - 10 - two mutated factor VIII - PCR - SEQUENCING TECH
30
* X-linked recessive * Mostly male cases, but female cases have been reported * Largest gene in the human genome (length 2.2 megabases) * __- protein product Most common neuromuscular disorder 1 2 DIAGNOSIS 1 2
DUCHENNE’S MUSCULAR DYSTROPHY - DYSTROPHIN - Progressive myopathy weakness - Elevated creatinekinase (CK) - Immunohistochemical studies - Multiplex PCR (molecular studies)
31
* X-linked dominant disorder with reduced penetrance * Penetrance increases in subsequent generations
FRAGILE X SYNDROME
32
DISEASES WITH NON-MENDELIAN INHERITANCE
- MITOCHONDRIAL DNA DISEASES - IMPRINTING - INHERITED BREAST CANCER
33
generate energy by producing ATP through oxidative phosphorylation * it contain own circular DNA molecule, __ - __ base pairs containing 37 genes
MITOCHONDRIAL DNA DISEASES - Mitochondria - mtDNA - 16,569
34
Two types of mtDNA mutations:
- tRNA genes - rRNA genes
35
MITOCHONDRIAL DNA DISEASES DETECTED tru 1 2 3
- DNA sequencing of mtDNA - PCR - Southern blotting
36
* Histone or DNA modification - Results in __ - Deletion of allele during egg and sperm production (_)
IMPRINTING - transcriptional silencing - gametogenesis
37
IMPRINTING Mutations detected by many platforms, including:
- Cytogenetic detection For deletion detection - Methylation-specific PCR (mPCR) - PCR for STRs for uniparental disomy - Sequencing
38
PATERNAL imprinting
- Prader-Willi Syndrome - Problem in learning disability - Short stature - Behavioral issues
39
MATERNAL imprinting
- Angelman Syndrome - Learning disability - Attacks of laughter - Absences of speech
40
Paternal maternal DETECTED tru
Cytogenetics detection – deletion detection ▪ Karyotyping – detects chromosomal rearrangement ▪ FISH – incorporates probe to detect deletion, amplification, insertion - MPCR - PCR for unipaternal disomy sequencing
41
• Familial breast cancer accounts for only 5-10% of all breast carcinomas. • Mutations in two major breast cancer genes predispose individuals to ______ and _______
- INHERITED BREAST CANCER - breast and ovarian cancer
42
- ________ - incre. risk for prostate and colon cancer
- BRCA1 gene
43
Mutations in BRCA1 and BRCA2 are inherited in an ______________ __– greater risk of developing cancer
autosomal dominant manner Men carrying genes
44
INHERITED BREAST CANCER DETECTED TRU
- DNA Sequencing - Genetic Cancelling
45
* Gene for Huntington’s disease is __ and is on chromosome__
huntingtin - 4 (short arm – p):
46
* Common inherited form of learning disability * Name derived from cytogenetic abnormality of a breakpoint or fragile spot within the telomere of a __ * TRINUCLEOTIDE repeat expansion of __
FRAGILE X SYNDROME - metaphase X chromosome - CGG
47
FRAGILE X SYNDROME Normal range: __ Premutated: __ Mutated:__ Problem in __ DETECTED THRU: 1 2
5-45 50-200 over 200 FMR 1 gene - Southern blotting and Detection number of CGG
48
* ______________ - Normal and mutated mtDNA copies can coexist in a cell
heteroplasmy
49
* Different phenotypic presentation depending on maternal or paternal deletion inheritance *on chromosome __
Imprinting - 15 del (q11q13)
50
- ________ - increased risk for pancreatic cancer
BRCA2

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