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Pathophysiology > Genetic Basis for disease > Flashcards

Genetic Basis for disease Flashcards

1
Q

What is genetics

A

study of hereditary, focused on single gene (develop treatment plans)

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2
Q

What is a gene?

A

unit of heredity
- sequence of nucleotides
- determines structure or has regulatory function in a cell

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3
Q

Chromosomes?

A

Linear arrangement of genes within the cell nucleus
- normal = 23 pairs
22 paurs of autosomes and 1 sex chromosome XX or XY

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4
Q

Homozygous vs. heterozygous

A

homo = processing pair of identical genes
hetero= different genes on a pair of chromosomes

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5
Q

What is genomics?

A

study of all genes, genetic inter-relationship and their influence on growth and development

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6
Q

What is congenital disorder?

A

abnormalities of a body structure, function, or metabolism & present at birth
1. Chromosomal disorder
2. Single gene disorder
3. Multifactorial disorder

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7
Q

If someone has a numerical disorders what does that mean?

A

(number of chromosomes) loss of chromosome = more serious (death)

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8
Q

euploidy

A

normal number of chromosomes

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9
Q

Aneuploidy

A

abnormal cells do not contain chromosomes in multiples of 23

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10
Q

What is the cause of Aneuploidy?

A

nondisjunction (abnormal in daughter cells)
- Failure of chromatid pairs to separate
- Results in unequal number of chromosomes in daughter cell

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11
Q

What are the 2 types of aneuploidy?

A
  1. autosomal (abnormal of chromosomes in a somatic cell 13, 18, 21
    - Trisomy = when a cell contains one extra copy of any the chromosomes
  2. Monosomy (when a cell only contains only 1 copy of any of the chromosomes instead of 2 (loss of chromosomes)) LEATHAL
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12
Q

What is an example of autosomal genetic disorder?

A

down syndrome
- facial abnormalities
- intellectual disability/low IQ, poor muscle tone, short stature, systemic disorders, mortality
- Increased risk with increased maternal age

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13
Q

What are the 2 examples of sex chromosome disorder?

A

klinefelter syndrome and turner syndrome

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14
Q

what is Klinefelter Syndrome? clinical manifestations?

A

at least 2 XX and one Y
- male appearance but female features, moderate IQ

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15
Q

What is turner syndrome? clinical manidestations?

A

x chromosome monosomy = only females with only 1 X chromosomes
- webbed neck, shield like chest, faulty ovary development, short stature, narrow aorta, some IQ impairment

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16
Q

What is polyploidy?

A
  • more that 2 complete sets of chromosomes
    child will die
    tetraploidy - 92 chromosomes
    triploidy - 69 chromosomes
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17
Q

tetraploidy vs. triploidy

A

tetraploidy - 92 chromosomes
triploidy - 69 chromosomes

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18
Q

What are some structural disorders?

A

Deletions
Duplication
Inversion
Translocation
Fragile sites

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19
Q

Deletions example of disorder?

A

loss of portion of a chromosome
- Cri Du Chat Syndrome = low birth weight, microcephaly, heat heart defects, intellectual disability

20
Q

Duplication

A

presence of a repeated gene or gene sequence

21
Q

Inversion

A

reversal of gene order - entire or just portion

22
Q

Translocation

A

transfer of one part of a chromosome to another

23
Q

Fragile sites example ?

A

chromosome parts that develop distinctive breaks and gaps
- fragile X syndrome: only effects X chromosome (only in males)
2nd most common genetic disorder

24
Q

What are the 2 branches off of chromosomal disorder?

A
  1. numerical disorder
  2. structural disorder
25
Q

What are the 3 branches off of Single gene disorders?

A
  1. autosomal dominant
  2. autosomal recessive
  3. sex chromosomes
26
Q

Autosomal dominant? example?

A

abnormal gene is dominant and normal gene is recessive
Marfan’s Syndrome: connective tissue disorder involving skeletal, ocular, and cardiovascular systems
- Thin tall arm span is longer than there height – life threatening later in life because of their weakened aorta

27
Q

Autosomal Recessive? example?

A

abnormal gene is recessive and normal gene is dominate
- Phenylketonuria (PKU) part of newborn screening
- Cystic Fibrosis

28
Q

What is PKU?

A

Phenylketonuria
Inability of body to convert phenylalanine to tyrosine = elevated levels of phenylalanine (toxic to cns) & deficient tyrosine
- Accumulation in the blood and excess causes alterations in nervous system development Metabolic system disturbances
- Tests now available for detection = tests for autism, seizure disorders

28
Q

What is PKU?

A

Phenylketonuria
Inability of body to convert phenylalanine to tyrosine = elevated levels of phenylalanine (toxic to cns) & deficient tyrosine
- Accumulation in the blood and excess causes alterations in nervous system development Metabolic system disturbances
- Tests now available for detection = tests for autism, seizure disorders

29
Q

Sex chromosome disorders in single gene disorders? example?

A

most x link recessive - more in males b/c it take 2 copies for female
- Duchenne Muscular Dystrophy
- Fragile X Syndrome

30
Q

What is the difference between sex limited and sex influenced?

A

Sex limited - trait only occurs in 1 gender = testicular defects … uterine defects

Sex influenced = trait only occurs more often in one gender than the other = breast cancer, balding

31
Q

What is multifactorial genetic disorder?

A

Interaction between genetic susceptibility and environment (living environment)
- more frequently in females

32
Q

What are some multifactorial genetic examples

A

Examples cleft lip and palate, neural tube defects, club feet, some congenital heart defects, diabetes mellitus, hypertension, some types of cancer

33
Q

What is a teratogen? examples?

A

Enviormental problems that could harm there baby
- medication, smoking, drugs and alcohol, mothers health, radiation, malnutrition, micoorganisms

34
Q

What is TORCH?

A

panel of tests based on living conditions for baby
- Toxoplasmosis
- other
- Rubella
- cytomegalovirus
- herpes

35
Q

What is Toxoplasmosis

A

from cat pee, undercooked meat, unpasteurized milk
- Eye infections and intellectual disability and miscarriage

36
Q

rubella?

A

baby will be still born

37
Q

what is cytomegalovirus?

A

transmitted though body secretions (milk)
- Death, intellectual disability

38
Q

Herpes

A

Herpes – can be spread during birth STI

39
Q

What is the outcome of a terogen?

A

congenital defects

40
Q

what is a recurrence risk?

A

probability of an individual will develop a genetic disease

41
Q

What would be the transmission rate in autosomal dominant for an affected parent and normal parent?

A

50%risk

42
Q

What would be the transmission rate in autosomal dominant for an affected parent and an affected parent

A

75% risk

43
Q

What would be the transmission rate in autosomal recessive for an heterozygous parent and heterozygous parent =

A

25% risk

44
Q

What would be the transmission rate in autosomal recessive for an heterozygous parent and affected parent =

A

50% risk

45
Q

Can there be a genetic disorder in a child whos parents do not carry the gene?

A

yes even tho there is no history of disease in family there could a a probable new mutation in a parents genes

Pathophysiology (6 decks)

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