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Patho > Lecture 2 Genetics > Flashcards

Lecture 2 Genetics Flashcards

1
Q

DNA

A

Deoxyribonucleic acid

Double helix composed of nucleotides and nitrogen bases

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2
Q

Gene

A

Blueprint for producing protein

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3
Q

Chromosome

A

46 in total (23 pairs)

Large unit of heredity composed of thousands of base pairs

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4
Q

Autosomal

A

Chromosome that isn’t a sex chromosome (chromosome 1-22)

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5
Q

Locus

A

Location of a gene in a chromosome

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6
Q

Alleles

A

Matching pairs of genes the same trait in the same location in a pair of chromosomes

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7
Q

Homozygote

A

A pair of alleles is identical

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8
Q

Heterozygote

A

A pair of alleles is different

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9
Q

Genotype

A

genetic pattern (Bb)

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10
Q

Phenotype

A

Expression if gene (physical feature)

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11
Q

Dominant

A

Will be seen if one copy is present

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12
Q

Recessive

A

Manifiest if identical pair is present

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13
Q

Carrier

A

Person with one recessive gene and trait isn’t expressed

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14
Q

Genomics

A

Study of multiple genes and their interactions

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15
Q

Pharmacogenomics

A

Study of how genes influence an individuals response to medications

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16
Q

Penetrance

A

Ration of how many person with phenotype have genotype

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17
Q

Expressivity

A

Disorder can be expressed more or less severely in different individuals

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18
Q

Polygenic/ multi factorial disorders

A

Multiple imperfect genes stimulated by environmental factors expressing an undesirable treat

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19
Q

Epigenetics

A

Study of heritable changes in gene expression that don’t involve DNA alterations

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20
Q

Chromosome disorders

A

Changes in # or structure of chromosome

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21
Q

Gene expression

A

Whether gene will be active or not

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22
Q

Translocation

A

When one part of chromosome breaks off and connects to another chromosome

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23
Q

Repression

A

Gene expression is decreased

24
Q

Mutations

A

Accidental errors in duplication or destruction of parts of genetic code

25
Q

Somatic mutations

A

Alterations in genetic code of body’s somatic cells

26
Q

Mosaic

A

Cells with different #s of chromosomes within the same individual

27
Q

Autosomal dominant inheritance

A

Single gene disorder when defective allele is dominant and overrides normal allele
Signs and symptoms occur later on
50% chance of inheriting
Ex: Huntington, neurofibromatosis, Marfan syndrome, familial hypercholesterolemia

28
Q

Huntington’s Disease

A

Defect on chromosome 4 causing CAG to repeat causing overproduction of “Huntington” chemical causing progressive brain damage

29
Q

Huntington disease side effects

A 
Chorea (movement) 
Parkinsonism features 
Ridged 
Severe depression/sucidal thoughts common 
Meds used but no cure
30
Q

Neurofubromatosis (NF)

A

Autosomal dominant
Rumors grow on nerves and decrease prod. of proteins
“Elephant man syndrome”

31
Q

Marfan syndrome

A

Autosomal dom. Disorder
Connective tissue disorder w/abnormalities in skeletal and cardiovascular systems
Common in males
Scoliosis, kyphosis, long arms, visual probs, pingeon chest, etc

32
Q

Familial hypercholesterolemia

A

Autosomal dom. Disorder
Absent or dysfunctional LDL receptors by mutation of 19p gene locus
Unable to remove LDL

33
Q

Autosomal recessive inheritance

A 
Must have 2 copies of allele to be seen 
Children who have become carriers 
More prominent in children
25% chance of inheritance 
Ex: Phenylketonuria (PKU), Sickle cell, tay-Sachs, cystic fibrosis, thalassemia
34
Q

Phenylketonuria (PKU)

A

Autosomal recessive disorder
Metabolic disorder-by elevated levels of phenylalanine (toxic to brain)
Seizures, hyperactivity, dec. pigmentation, mental retardation in untreated infants

35
Q

Sickle cell disease

A

Autosomal recessive disorder
Abnormal sickle cell shape in hemoglobin
Ridgid
Can cause blockage

36
Q

Tay-Sachs disease

A

Lysosomal enzyme, mutation on chromosome 15
Destroys nerve cells in brain+spinal cord
Ganglioside accumulates
Red spot on retina, weakened muscles, seizures, vision and head lung loss
Fatal by age 5

37
Q

Cystic fibrosis

A

Autosomal recessive disorder
Defects in CFTR gene
Thick mucous secretion
No cure and expected to learn 30-40

38
Q

Thalassemia

A

Genes good for Hogan formation are missing
S&S: anemia, fatigue, weakness, SOB,
No cure but symptomatic treatment is

39
Q

X-linked disorders

A

Defect on X chromosome
Males can’t be carriers but will be expressed since they only have one X and 50% chance of prod. Affected male
Females have 2 X chromosome but recessive traits are inhibited and 50% chance prod, female carrier

40
Q

X- disorders examples

A

Fragile x- syndrome
Hemophilia A
Dúchenme dystrophy
Glucose - 6- phosphate dehydrogenase deficiency (G6PD)

41
Q

Fragile X Syndrome

A

Don’t make FMR1 gene (needed for normal brain development)

Autistic behavior, developmental delays makes have long face and large mandible

42
Q

Hemophilia

A

Deficiencies of clotting factors cause failure in prod. clots

43
Q

Duchenne Muscular Dystrophy (DMD)

A

Generic disorder characterized by progressive muscle degeneration and ness from mutation in dystrophin gene

44
Q

G6PD deficiency

A 
X linked disorder that’s the Most common enzyme disorder that primary affects men. 
Causes hemolysis (break apart RBC)
45
Q

Disjunction

A

Separation of homologous chromosomes to prod. 2 daughter cells with 23 chromosomes

46
Q

Nondisjunction

A

Pair of chromosomes fails to separate resulting in abnormal distribution of chromosomes in daughter cells

47
Q

Down Syndrome

A 
Trisomy 21 (extra chromosome)
Flattened facial profile, small hand and feet, protruding tongue
48
Q

Nondisjunction of sex chromosomes

A

Can cause individuals to be born female with one X (Turner syndrome) or extra C (Klinefelter syndrome)

49
Q

Turner Syndrome

A

Female with one X

Extra fold of skin on neck, short stature, heart defects, low hairline, early loss of Carina function

50
Q

Klinefelter syndrome

A

Males have extra X chromosome

Lack testes development; skeletal/cardiovascular abnormalities, feminine distribution, tall and lanky

51
Q

Multi factorial/ polygenic disorders

A

Two or more genes or gene loci influence the expression of gene trait
Environmental triggers are thought to be necessary for the trait to be expressed
Ex: cleft lip and palate, TEV,

52
Q

Cleft lip and palate

A

Incomplete closure of the maxillary facial bones

Cleft palate occurs when the tissue that makes up the roof of the mouth is not joined together

53
Q

Congenital talipes equivocaría (TEV)

A

Club foot

Foot deformity that causes the bones and tendons of the IV to turn in word

54
Q

Teratogen

A

Substance that produces abnormalities during embryonic or fetal development

55
Q

Fetal Alcohol Syndrome (FAS)

A

Exposure to excess maternal alcohol consumption while in utero throughout the entire pregnancy
Born with restarted physical growth, intellectual disability, cardiac defects, and musculoskeletal abnormalities
Mental retardation

56
Q

Thalidamide

A

A teratogenic drug given to pregnant women for morning sickness relief
Babies born with deformed missing limbs (phocomelia)

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