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Pathophysiology > Chapter 3 > Flashcards

Chapter 3 Flashcards

1
Q

Chromatin

A

when cells aren’t in the process of dividing, in loose form in nucleus

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2
Q

Chromatid

A

when cells are ready to divide, chromatin condenses and coils into chromatid

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3
Q

Chromosome

A
  • 2 chromatids attached in the middle by centromere in each of chromatid pairs, one comes from mother
    and other from father
  • (we have 23 pairs and 46 chromosomes)
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4
Q

How is DNA different from RNA

A
  • Pentose sugar: DNA deoxyribose / RNA ribose
  • Nitrogenous bases: DNA thymine/ RNA uracil
  • Single strand double strand: DNA double/ RNA single
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4
Q

What is the composition of DNA?

A

Pentose sugar (deoxyribose) Phosphate molecule Nitrogenous base
(A,T,C,G)

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5
Q

What is a codon?

A
  • Segments of 3 nitrogenous base pairs which represents an amino acid
  • Combination of AA make polypeptides which make protein
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6
Q

How do mutations occur?

A

Spontaneous mutation: occur by chance, in the absence of mutagens (mutation causing agent) Caused by radiation, industrial chemicals, smoke
Can be inherited or sporadic

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6
Q

What is a mutation?

A

Change in DNA template that can result in abnormal RNA, DNA, and protein synthesis

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7
Q

Single nucleotide polymorphism

A

called a point mutation

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8
Q

Defective gene

A

ex BRCA1, BRCA2 causes breast and ovarian cancer

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9
Q

Defective whole chromosome

A

extra or lack of a chromosome: trisomy 21 (down syndrome)

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10
Q

Germ cell mutation

A

mutated gamete

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11
Q

Gene

A

basic unit of inheritance made of sequence of DNA

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12
Q

Phenotype

A

outward appearance of an individual, which is the result of both genotype and environment

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13
Q

Genotype

A

the composition of genes at a given locus

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14
Q

Punnett Square

A

predict the genotypes of a particular cross or breeding experiment.

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15
Q

Karyotype

A

An ordered display of chromosomes

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16
Q

Homozygous

A

two specific genes for the same trait that are the same 2 dominant or 2 recessives. (HH,hh)

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17
Q

Heterozygous

A

alleles that are different. Will have one dominant and one recessive. The dominant trait will be
expressed. (Hh)

18
Q

Autosomal dominant

A

trait is expressed whenever the gene is present from either parent, at least one.
- Most cases occur between a heterozygous affected parent and a normal parent. Any child who inherits the trait will develop the disease. 50% chance of offspring from this mating will be affected. (Huntington Disease)

19
Q

Autosomal recessive

A

trait is expressed only when inheriting defective gene from BOTH PARENTS.
- Individual is homozygous for the abnormal gene. 25% chance that each offspring will be affected by the disease when both parents are carriers. 50% chance that offspring will be a carrier.

20
Q

Autosomal dominant

A
  • It is dominant so you will express it
21
Q

Huntington’s Disease

A
  • Autosomal dominant
  • spasticity, dysarthria, dysphagia, and slowed cognition to dementia, which occurs gradually.
  • Severe depression and suicidal ideation is common.
  • As disease progresses, chorea is replaced by parkinsonian features
    *no cure, onset mid life
22
Q

Marfan Syndrome

A
  • autosomal dominant
  • Abnormalities exist in the structural components of the aorta and heart valves, airways of the lung,
    suspensory ligament of the lens, dura mater of the spinal cord, and connective tissues of the body. Most
    common in males
  • Tall stature with elongated arms and fingers
23
Q

Autosomal recessive

A

both parents have to be carriers (Cystic Fibrosis, Sickle-Cell Anemia)

24
Q

X Linked

A

trait is expressed in any male that carries the affected gene. Males are affected/females are carriers (Klinefelter’s, Turner’s Syndrome)

25
Q

What causes cystic fibrosis?

A
  • Auto Recessive
  • Thick mucus produced by the exocrine glands
  • Affects most body systems (predominantly effects the resp. and GI systems)
  • Shortened life expectancy
  • Salty sweat
  • Whites of Northern European
  • All states screen for CF
  • neither parent have it but both are carriers
26
Q

What causes Sickle Cell Anemia?

A
  • Auto R.
  • Causes RBCs to periodically become sickle- shaped
  • Vaso-occlusion- pain and damage to tissues throughout the body
  • Increased incidence in African Americans
  • Sickle cells get stuck in smaller arteries and veins
  • 2 carriers have child that express disease
27
Q

What causes Tay-Sachs disease?

A
  • Auto R.
  • Lysosomal storage disease
  • Inability of lysosomes to break down cell membranes
  • Distention and cell death in NS
  • Appear normal till 6 months/ death by age 3
    “cherry red spots” on the retina
  • causes poor motor coordination, lethargy, muscle flaccidity, increase cognitive impairment
28
Q

Turner Syndrome

A
  • monosomy of the sex chromosome
  • girl who has only one X chromosome
  • webbed neck, shield like chest with underdeveloped breasts
  • widely spaced nipples, and imperfectly developed ovaries
  • Hypothyroidism
  • short stature, female genitalia
29
Q

Klinefelters

A
  • Boy born with an extra X chromosome
  • XXY
  • Testosterone deficiency -Small testes
  • Sparse or absent body hair, and long limbs—- sterile
  • Decreased muscle mass
  • Gynecomastia
  • Decrease Muscle mass, small testes, can be sterile
30
Q

Down Syndrome

A
  • Trisomy 21: have an extra chromosome
  • 3 of the 21st chromosome (varying degrees of disruption)
  • heart defects, mental retardations, shorter life expectancy/ hypothyroidism, leukemia
  • incidence in mom’s > 30 yrs.
31
Q

What are multifactorial defects? Why do they occur? What are examples of them?

A
  • disorders caused by multiple gene abnormalities and environmental factors
  • Cleft lip and palate, congenital hip dislocation, diabetes, heart disease / possible schizophrenia
  • tend to involve malformations of a single organ / tend to run in families
32
Q

Epigenetic changes

A

Alt in gene expression due to environ stressors, behaviors, or lifestyle

33
Q

Pharmacogenomics

A

gene function in health, disease, and responses to meds

34
Q

genetics

A

study of inherited traits

35
Q

genomics

A

study of interaction of all genetic material (not only genes)

36
Q

germ cell mutation

A

gametes affected: passed to offspring

37
Q

Somatic cell mutation

A

body cells: not passed to offspring

38
Q

gene nomenclature

A

chromosome number, arm, and region. Location

39
Q

Autosomes

A

1st of 22 pairs (not sex 23)

40
Q

All cells contain same genes but will expression be the same?

A

no, expression varies bw cells

41
Q

genetic penetrance

A

high penetrance indicates almost all individuals w the gene express the phenotype

42
Q

Single- Nucleotide Polymorphisms

A

changes in one nucleotide of a gene sequence, can have profound effects (sickle cell)

43
Q

Fragile X syndrome

A
  • disorder of X chromosome
  • cognitive impairment
  • touch sensory perception high
  • high arch in palate
  • long face
  • impulsive
  • mitral valve prolapse (murmur)
44
Q

Neurofibromatosis (NF)

A

Pathophysiology (4 decks)

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