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Pathophysiology - Intro > Heredity and Disease > Flashcards

Heredity and Disease Flashcards

1
Q

What does DNA stand for?

A

deoxyribonucleic acid

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2
Q

What is DNA made of?

A

backbone of deoxyribose sugars, phosphates, and 4 chemical bases (adenine, thymine, guanine and cytosine)

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3
Q

What are genes made of?

A

sequences of A, T,G and C arranged in diff orders and diff lengths

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4
Q

What does DNA synthesis?

A

RNA (ribonucleic acid) which = protein synthesis

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5
Q

What are chromosomes

A

contain thousands of genes which codes for the synthesis of a particular protein

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6
Q

What is karyotype?

A

the complete chromosomal compoisiton of the nucleus

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7
Q

How to visualize karyotypes + why is it important to do so?

A

extracting chromosomes from the nucleus and photographing them under a microscope to detect abnormalities

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8
Q

What is meoisis?

A

cells in ovaries and testis seperate to produce gametes that hae 23 chromosomes each so when the gametes unite during fertilization there are 23 chromosomes

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9
Q

what is haploid?

A

gametes with half chromosomes (23)

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10
Q

what are diploids

A

represents somatic cells that have 46 chromosomes in 23 pairs

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11
Q

What is a locus?

A

where genes for a trait occupy a site on a chromosome

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12
Q

What are alleles?

A

alternative forms of a gene (one ofthese alleles r located on each paired chromosomes)

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13
Q

What is genome?

A

the complete set of DNA in a living things

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14
Q

What are autosomal dominant disorders?

A

disease cuased by inheritign a single autosomal dominant allele (usualy transmitted by a parent who is het for trait)

50% chance if other parent is normal

appears in every gen of fam

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15
Q

what are some autosomal dom disorders

A

huntington’s disease

neurodegenerative disorder

polydactyly

achodroplastia (achondroplastic dwarfism)

marfan syndrome

familian hypercholesterolemia

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16
Q

what are autosomal recessive disorders?

A

only occurs when 2 allele is inherited from each parent (has to be homo for the trait)

If parents r both carriers child has 25% chance

17
Q

examples of autosomal recessive disorder?

A

cystic fibrosis

hemochromatosis

phenylketonuria

galactosemia

sickle cell anemia

Tay-Sachs

albinism

18
Q

What is a sex-linked inheritence?

A

affected allele is located on X chromosome so male with sexlinked trait will have it (female can be hetero so children will have 50%)

19
Q

Sex-linked traits are most common in…..

A

men >o<

20
Q

x-linked recessive diseases:

A

gene is located only on X chromosome so more likely for males

Duchenne muscular dystrophy

color blindness

hemophilia A

fragile x syndrome

21
Q

What are familial diseases?

A

disease that appear consistently in families but means of inheritance r understood

22
Q

What is down syndrome?

A
  • aka mongolism
  • extra autosomal chromosome (trisomy 21) bc no 21 chromosomes failed to seperate as gametes
  • mild to severe intellectual developmental disorder
  • occurs in 1 in 700 live births
  • more often in infants born to women older than 35 y/o
23
Q

S/s of down syndrome

A
  • mild to severe intellectual disorder
  • heart defects
  • small head w/ flat back skull
  • eyes r slanted bc extra fold of skin
  • small low-set ears
  • small mouth with coarse tongue that often protrude
  • nose is short and flat, short
  • sex organs r underdeveloped
  • more likely to get sick
    -small, weak muscles
  • hand r short w/ stubby fingers and deep horinzontal crease across palm (simian line)
  • exaggerated space between big and lttile toes
24
Q

What is turner’s syndrome

A

presence of only one x chromosome (appears female but no ovaries so is sterile, no boobs, short, stocky)
- most common disorder of gonadal dysgenesis in females

25
Q

What is Klinefelter’s Syndrome?

A

extra x chromosomes (appears male but has small testes that didnt mature and dont produce sperm, has female traits after puberty)
male hypogonadism (appearing in males after puberty with at least 2 X chromosones and 1 or more Y chromosomes (typically XXY)

26
Q

What is Pseudohermaphroditism?

A

have either testes or ovaries (nonfunctional) but rest of anatomy is mixed, known as intersex

27
Q

what is sex reversal?

A

in the first few weeks after conception sex glands r neutral

if there is not enough testosterone ovaries develop and individual is anatomically female but has XY chromosomes

28
Q

What is amniocentesis?

A

small amt of amniotic fluid is withdrawn after 14th week of pregnancy to test the chromosomes in the fetal cells in the fluid

can detect 200 genetic diseases before birth

29
Q

What is chorionic villus sampling

A

removing cells from the villi through the cervix (can test immediately for chromosomes)

30
Q

What is gene therapy?

A

procedure that involves identification, manipulation, and transfer of genetic material into a pt to replace or repair defective genes

31
Q

What are congenital disorders?

A

those present at birth or shortly after (not genetic or chromosomal abn)

affected by inadequate oxygen, maternal infection, drugs, malnutrition, and radiation

32
Q

ex of congenital disorders?

A

• Congenital rubella
• Cerebral palsy
• Hydrocephalus
• Spina bifida
• Congenital heart diseases
• Congenital disorders of the intestine
• Cleft lip and cleft palate

33
Q

effect of thalidomide

A

used for morning sickness but affect fetuses by them borning without limbs or had flipperlike appendages

34
Q

What are genetic diseases?

A
  • produced by abnormality in or a mutation of genetic code in a single gene
  • caused by several abn genes (producing the so-called polygenic diseases)
  • caused by abnormal presence or absence of an entire chromosome
  • alteration in structure of chromosomes
  • caused by mutations that pass from one gen to next, caused by mutagens that disrupt DNA code- includes certain chemicals, radiation and viruses)
35
Q

how to diagnose and treat down syndrome?

A
  • severe r usually diagnosed prenatal via ultrasonography, blood tests and/ or amniocentesis or durign neonatal period, milder forms r diagnosed later, phyiscal s/s, presence of small white dots on riis, karyotype

treatment - depends on severity, no cure, surgical correction of cardiac defects, antiobitioc therapy for susceptiblity to pulmonary disease, care at home or long-term care centers

36
Q

s/s of klinefelter syndrome?

A
  • reduced levels of male hormone testosterone
  • puberty normal w/ regula sized penis but small testes and body hair is scant
  • infertility from azoospermia (rarely fertile if they have mosaic form that carries extra X chromosomes in only 1 cell line)
  • mild delay in language acquisition
  • increased risk of behavioral and learning disabilities
  • mild to more significant intellectual disabilites
  • mammary glands r enlarged
  • osteoporosis
  • chronic pulmonary disease
  • autoimmune disorder
  • venous disease
  • breast cancer
  • tooth decay
37
Q

how to diagnose and treat klinefelter syndrome?

A

diagnose - physical exam, serum and urine gonadotropin level determination, semen analysis, chromosomal smear analysis

treat - long-term hormone replacement w/ testerone via injection or transdermal patch
- supplemental calcium intake to prevent osteoporosis

38
Q

s/s of turner syndrome?

A
  • ovarian r immautre or absent
  • short
  • low-set ears
  • swollen hands and feets
  • webbing neck
  • absence of sexual maturation
  • amenorrhea
  • sterility
  • dwarfisim
  • cardiac defects (coarctation of aorta and aortic dissection caused by CV disease)
  • kidney defects
  • ovaries slowly begin to disappear or dont have eggs
  • delayed speech and ambulation
  • normal intelligence

Pathophysiology - Intro (15 decks)

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