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S2 PTA 104 disease > Genetics > Flashcards

Genetics Flashcards

1
Q

Congenital

A

Present at birth, inherited, genetic or developmental defects due to damage in utero

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2
Q

Genetic

A

Consequences of gene changes to the 23 chromosomes in each cell

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3
Q

Chromosomal

A

Abnormal or dislocation of chromosomes

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4
Q

Developmental

A

Damage to body structures during development or shortly after birth

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5
Q

Multifactorial

A

Combo of genetic predisposition and exposure

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6
Q

Chromosome

A

DNA storage unit

  • threadlike strands of DNA wrapped around protein in each cell nucleus which transmits genetic info
  • human DNA organized into 2 sets of 23 (22 = autosomal, 23rd = sex)
  • XX female, XY male
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7
Q

Genes

A
  • instruction manual
  • code for cells to make protein molecules
  • two copies of each gene
  • 25000 genes
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8
Q

Alleles

A

DNA sequence of a particular gene that occupies a given location on a chromosome - rungs

  • “functional unit”
  • dominant and recessive
  • in an organism that has two copies of each chromosome, two alleges make up the individual’s genotype
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9
Q

Genotype

A
  • an individual’s collection of genes, genetic make up or allele combination
  • refers to the two alleles inherited from a particular gene (one from each parent)
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10
Q

Phenotype

A
  • expression of the genotype contribute to the individual’s observable traits
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11
Q

Epigenetics

A

The study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself

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12
Q

Dominant traits

A

Occurs when one gene is sufficient to express a trait

  • masks the presence of a recessive gene
  • can be inherited from a single parent
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13
Q

Recessive trait

A

Expressed only when two copies of the gene are present

- seen only in the absence of dominant gene (or in males, if it is present on X and has no matching gene on Y)

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14
Q

Autosomal dominant diseases

A
  1. Huntington’s
  2. Osteogenesis imperfecta
  3. Marfan’s syndrome
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15
Q

Huntington’s

A
  • progressive neurological disease
  • genetic mutation on 4th chromosome
  • abnormal production of huntington protein
  • 50/50 chance of inheriting this gene from parent (if present, person has disease)
  • symptoms start in 30-40s
  • 10-20 yr lifespan after dx
  • genetic testing available, but may not want
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16
Q

Osteogenesis imperfecta

A

Brittle bone disease

  • genetic defect on genes responsible for collagen synthesis
  • rare congenital disorder of collagen synthesis
  • 25% no family Hx, spontaneous gene mutation
  • wide range of presentations: short, thin skin, joint hypermobility
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17
Q

OI treatment/management

A
  • fracture prevention and control
  • positioning and orthosis
  • careful handling, PROM without force, family education, swimming, strengthening
  • prognosis: varies from relatively normal life span
18
Q

Marfan’s syndrome

A

Disease of connective tissue, typically affecting bones and blood vessels, long limbs, and heart defects
- genetic defect affects structure of protein fibrillin

19
Q

Autosomal recessive

A
  • Both parents pass on defective gene: homozygous (2 recessive genes) child has genotype and phenotype
  • one parent passes on 1 defective gene: heterozygous child who is a carrier (with genotype) but without signs (phenotype)
  • spinal muscular atrophy - sickle cell anemia - cystic fibrosis
20
Q

Spinal muscular atrophy

A
  • 1/50 carries
  • 2nd most fatal autosomal recessive disorder (after cystic fibrosis)
  • 1/15000 live births
  • chromosome #5 gene deletion
  • degeneration of anterior horn cells
  • progressive atrophy of skeletal muscles and respiratory insufficiency / hypoventilation
21
Q

SMA management

A

Dx: muscle biopsy, electromyogram

  • treatment: symptomatic and preventive
  • pulmonary infection, orthopedic problems, feeding, scoliosis
  • prognosis: varies depending upon onset, death 2-12 years later
  • *therapy: positioning, head and trunk control, standing, and aquatic therapy
22
Q

Cystic fibrosis

A
  • most common genetic inherited disease in the US
  • disease of pancreas that leads to altered production by mucous membranes
  • defective gene and protein on chromosome #7
23
Q

Sickle cell anemia

A
  • 1/12 African-Americans carry gene for disease

- disease of RBCs: fucked shape and cant carry oxygen

24
Q

Chromosomal diseases

A

Chromosomes either break or fail to separate during gamete formation

  • results in abnormal placement of part of the chromosome, altered structure, or an abnormal number of chromosomes
  • these birth defects are more common when the mother is over the age of 35
  • NOT inherited (spontaneous, random change)
25
Q

Trisomy

A
  • nondisjunction occurs
  • chromosome pair doesn’t separate during gamete formation
  • 3 chromosomes, so 47 total
  • trisomy 21 = downs
  • trisomy 18 or 13 are high mortality rate within 1st year
26
Q

Monosomy

A

Turner’s syndrome

  • affects only females
  • female only has one X
  • failure of ovaries and other sex organs to mature (sterile)
  • cardiovascular defects
  • dwarfism
  • webbed neck (loose folds of skin)
27
Q

Single gene disorders

A

A disorder that is caused by 1 abnormal gene

  • result of genetic mutation, change in 1 gene in reproductive cells, then mutation is passed on to future generations
  • 1/200 births
  • X linked, recessive and dominant disorders
  • color blindness - cystic fibrosis
28
Q

X linked dominant disorders

A
  • inherited dominant allele carried on X chromosome
  • males and females can be affected
  • mutation of affected X chromosome appears constricted or broken
  • fragile X syndrome
29
Q

Fragile X syndrome

A
  • very rare
  • laundry list
  • Y genes do not exist to cover or replace genes on X
  • affects dudes mostly
30
Q

X linked recessive traits

A
  • a trait transmitted by a gene located on the X chromosome; also called sex-linked
  • sex-linked disorders are typically carried by the X/female sex chromosome
  • recessive genes, but lack matching normal gene on Y chromosome
31
Q

Why do men get X-linked diseases more than women?

A
  • X and Y chromosomes do not carry the same info
  • X tends to carry more genetic info than Y chromosomes
  • X linked diseases usually occur in males because males have only 1
  • a single recessive gene on that X chromosome will cause the disease
32
Q

Muscular dystrophies

A
  • largest and most common group of inherited progressive neuromuscular disorder
  • any time in life span
  • symmetrical muscle wasting
  • 6 types: Becker’s, facioscapulohumeral, limb-girdle, myotonic, muscular dystrophy congénita
  • pseudo-hypertrophic (calves) connective tissue and fat deposits
33
Q

Hemophilia

A
  • bleeding disorder, lack of clotting factor, 10 proteins
  • signs: excessive bruising, joint bleeding
  • knee most frequently involved, synovial hypertrophied
  • hemathrosis S&S: tingling, flexion stiffness, swelling, decreased ROM, warmth, pain, protective muscle spasm
  • management: factor replacement, RICE, painfree movements, pain medications
34
Q

Genetic disorder

A

Disease caused by a variation or mutation of a gene

  • mutations occur spontaneously or due to environmental factos. Some genetic disorders are inherited
  • 20-30% of pediatric hospital admissions
35
Q

Congenital disorder

A

Any anomaly present at time of birth, regardless of cause (infection, malnutrition, genes, or drug exposure)

36
Q

Spinal bífida

A

Congenital neural tube defect

  • malformation of spine, occurs very early in pregnancy
  • forms: oculta (not visible), meningocele, and myelomeningocele (most serious)
37
Q

Meningocele

A

Saclike cyst outside spine

- rare neurological deficits

38
Q

Myeloeningocele

A

Saclike cyst outside spine

- flaccid or spastic paralysis, B&B incontinence, deformation, hydrocephalus, cognitive limitation

39
Q

Erb’s palsy

A

Etiology: brachial plexus injury during birth (3 types)

40
Q

Arthrogryposis multiple congénita

A

Etiology: decreased fetal movement

- can present as club foot or hip dysplasia

41
Q

Multifactorial disorders

A
  • involve a number of genes combined with environmental factors, localized area
  • the interaction of genetic and environmental factos, so can be affected
  • heart disease - breast and colon cancer - type 2 diabetes mellitus
42
Q

Phenotype - multiple interactions

A
  • genes
  • diet
  • environment
  • social
  • psychological
  • allergens
  • infection
  • exercise

S2 PTA 104 disease (15 decks)

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