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Biochemistry > Molecular Medicine/Forensics > Flashcards

Molecular Medicine/Forensics Flashcards

1
Q

Monogenic Recessive Disorders

A
  1. Cystic Fibrosis
  2. Phenylketornuria
  3. Tay-Sachs
  4. Thalassaemia
  5. Sickle Cell
  6. Galactosaemia
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2
Q

Autosomal Dominant Disorders

A
  1. Huntington’s Disease
  2. Myotonic dystrophy
  3. Familial hypercholesterolaemia
  4. Breast Cancer (BRCA1 BRCA2)
  5. Familial Alzheimer’s disease
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3
Q

X-Linked Disorders

A
  1. Hemophilia A/B
  2. Duchenne Muscular Dystrophy
  3. Fragile-X syndrome
  4. X-linked severe combined immunodeficiency
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4
Q

Penetrance definition

A

frequency with which a particular genotype manifests itself in the phenotype-complete/incomplete

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5
Q

Phenocopy

A

same symptoms may be the same from virus’ or inherited

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6
Q

Anticipation

A

Severity of disease increases with succeeding generations-muscular dystrophy

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7
Q

Genomic imprinting

A

expression of disease depends on the parents from which it was inherited

Prader-Willi syndrome-father
Angelman syndrome-mother

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8
Q

Expressivity

A

Same disease alleles but differences in severity

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9
Q

Mosaicism

A

All body cells are not genetically identical

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10
Q

Complex Disorders-Congenital

A
  1. Neural tube-spina bifida/anencephaly
  2. Congentital heart disease
  3. Cleft lip palate
  4. Mental Retardation
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11
Q

Complex Disorders-Diseases of later life

A
  1. Rheumatoid arthritis
  2. Various cancers
  3. Epilepsy
  4. Multiple Scelrosis
  5. Insulin-dependent diabetis mellitus
  6. Peptic ulcer
  7. Ischaemic heart disease
  8. Hyperthyroidism
  9. Gallstones
  10. Migraine
  11. Asthma
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12
Q

Complex Disorders-Psychiatric disorders

A
  1. Manic Depression
  2. Alcoholism
  3. Schizophrenia
  4. Tourette’s syndrome
  5. Dyslexia
  6. Alzheimer’s disease
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13
Q

Turner’s Syndrome

A

45 chromosomes: X

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14
Q

Klinefelter’s Syndrome

A

47 chromosomes: XXY

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15
Q

Trisomy 21

A

Down’s Syndrome

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16
Q

Edward’s Syndrome

A

Trisomy 18

17
Q

Mitochondrial Mutations

A
  1. Chronic progressive external opthalomoplegia (CPEO)
  2. Pearson’s Syndrome
  3. Neurogenic muscle weakness, ataxia and retinis pigmentosa
18
Q

What is the USA’s name for their DNA banking system?

A

CODIS-Combined DNA Index System

19
Q

What are the 3 ethical, legal and social concerns about DNA Databanking?

A
  1. Privacy
  2. Who is chosen for sampling
  3. Practicality
20
Q

What is the difference between VNTR and STR?

A

Variable number of tandem repeats usually are composed of 15-70 base pairs and repeated 5-100 times

Short tandem repeats: only 2-4 nucleotides in length

Both used for DNA fingerprint-only identical twin is the same

21
Q

What is DNA profiling?

A

A technique used by scientists to distinguish between individuals of the same species using only samples of their DNA

Biochemistry (15 decks)

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