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Cell: Exam 3 > Genetics and Pedigree Analysis > Flashcards

Genetics and Pedigree Analysis Flashcards

0
Q

Biological maps that tell us who we are, where we came from, and how we are related to other creatures

A

Genes

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1
Q

Science that deals with heredity and variation in organisms, including the genetic features and constitution

A

Genetics

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2
Q

Gene responsible for the gift of gab/language

A

FOXP2 at chromosome 2

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3
Q

Full set of chromosomes in a person’s cells

A

Karyotype

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4
Q

31 billion base pairs; 22,000-25,000 genes; 1M book pages or 23 sets of encyclopedia brittanica

A

Human genome

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5
Q

90% of genes

A

Junk DNA

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6
Q

2% coding for proteins

A

Life functions

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7
Q

General study of all the many different genes that determine drug behavior

A

Pharmacogenomics

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8
Q

Factors for disease status

A

Genetic risk factors, genetic protective factors, environmental risk factors, environmental protective factors

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9
Q

View that genes (genotypes) cause traits (phenotypes) and can no longer be altered

A

Genetic Determinism

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10
Q

Your genes dictate who you are

A

Genetic Determinism

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11
Q

Study of the chemical reactions and the factors that triggers the activation/deactivation of parts of the genome at strategic times and locations

A

Epigenetics

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12
Q

Believes that DNA is not your destiny

A

Epigenetics

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13
Q

Affected by factors such as development in utero, environmental, chemicals, drugs/pharmaceuticals, aging, diet

A

Epigenetic mechanisms

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14
Q

Nutriets like folic acid, B vitamins, and SAM-e

A

DNA Methylation (-CH3 tag)

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15
Q

Family history functions

A
  1. Aid in reaching a correct diagnosis
  2. Helps in accurate prognosis
  3. Presymptotic diagnosis
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16
Q

First affected individual in a family who brings genetic disorder

A

Proband

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17
Q

Indicidual presenting for genetic counseling (not necessarily affected)

A

Consultant

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18
Q

Graphic representation of a medical family history of disease using symbols

A

Pedigree

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19
Q

Provides both critical medical data and biological relationship information at a glance

A

Pedigree

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20
Q

Purpose of family pedigree

A

Diagnosis, testing startegies, pattern of inheritance, at risk family members, calculates risks, determine reproductive options, distinguish genetic from other risk factors, management, rapport, educate, explore patient’s understanding

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21
Q

Characteristics of mendelian genetics

A

Variable expressivity
Clinical or genetic heterogeneity
Sex-influenced or sex-limited gene expression
Assortive mating
Small paternity size
Info on unaffected relatives is as important
Non paternity

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22
Q

Tounge rolling, cleft chin, dimples, hitchhiker’s thumb

A

Dominant trait

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23
Q

Ear lobe attachment

A

Recessive trait

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24
Q

AA or Aa affected genotypes

A

Autosomal dominant

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25
Q

Autosomal dominant characteristics

A
  1. 50% chance of being affected
  2. Males and females affected equally
  3. Male-to-‘ale transmission occurs
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26
Q

Fibroblast growth factor 3 mutation, skeletal dwarfism, rhizomelic shortening of limbs, increased skin folds

A

Achindroplasia

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27
Q

Fibroblast growth factor 2, prominent eyes, big nose, craniocynotosis, some mentally handicapped

A

Crouzon Syndrome

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28
Q

Hypoplasia, webbed feet, higher incidence of mental handicap

A

Apert Syndrome

29
Q

Fibrilin 1 gene, tall sature, cardiovascular, skeletal and eye diseases, dilation and dissection of aorta

A

Marfan Syndrome

30
Q

Affected individuals may be carriers

A

Autosomal Recessive

31
Q

aa affected genotypes

A

Autosomal recessive

32
Q

Each offspring has 25% chance of being affected

A

Autosomal recessive

33
Q

Characteristics of Autosomal Recessive

A
  1. 25% chance of being affected
  2. Consanguinity
  3. Skips generations
  4. Males and females equally
34
Q

One parent carrier autosomal recessive chances

A

50% chance not affected, carrier

50% chance not affected, not carrier

35
Q

One parent affected autosomal recessive

A

100% carriers

36
Q

Both parents carriers autosomal recessive

A

25% chance affected

50% chance carrier

37
Q

One parent carrier/one affected autosomal recessive

A

50% chance affected

50% chance carrier

38
Q

Keratin gene mutation, ichthyosis, increase in turnover of skin, fish like scales

A

Harlequin baby, autosomal recessive

39
Q

Enzyme deficiency, normal at birth, onset at 2-3 years, loss of milestone skills, coarsening of facial features, build up of mucuopolysaccharides

A

Mucopolysaccharidosis Type 1 Hurler

40
Q

Maple-syrup smell of urine, causes encephalopathy, cannot breakdown branched amino acids (V, I, L), accumulation of toxic metabolites, rare disease (tested in newborn screening

A

Maple Syrup Urine Disease, autosomal recessive

41
Q

Cannot break down galactose, early onset of cataract, liver failure

A

Galactosemia, autosomal recessive

42
Q

Mutation on the X chromosome, normal at birth but develops weakness of proximal muscles, trips easily, exaggerated lumbarlordosis

A

Duchenne Musular Dystrophy, X-linked recessive

43
Q

MPS replaces inside of bones, deposition occurs in brain leading to neurologic deterioration

A

Mucopolysaccharidosis (MPS) II Hunter, X-linked recessive

44
Q

Hemolysis, 1 in 50 prevalence in Philippines but of milder phenotype

A

Glucose-6-Phosphate Dehydrogenase (G6PD)

45
Q

Genes and environmental factors, Affected population will be only those that have reached threshold

A

Multifactorial inheritance

46
Q

Factors affecting multifactorial inheritance

A
  1. Closer relationship to proband
  2. High heritability of disorder
  3. Proband of more rarely affected sex
  4. Severe or early onset of disease in proband
  5. Multiple affected members
47
Q

Male or female child of affected mother has 50% chance of inheriting mutation, and thus affected

A

X-linked dominant

48
Q

With affected father, all female children are affected and no male children will be affected

A

X-linked dominant

49
Q

Normal birth, progressive neurodegeneration, loss of purposefuk use of hands

A

Rett Syndrome, X-linked dominant

50
Q

Washer woman

A

Rett Syndrome, X-linked dominant

51
Q

Dosage of folic acid a month prior fertilization

A

400 microgram per day

52
Q

Earliest time for a pregnancy test

A

6-8 weeks

53
Q

How long is DNA in the mitochondria

A

16 kilobases

54
Q

Maternal inheritance with symptoms like stroke, epilepsy, seizures, hearing loss, peripheral neuropathy

A

Mitochondrial inheritance

55
Q

3 characteristics of mitochondrial inheritance

A
  1. Relatively well-known disease
  2. Features that set it apart
  3. Involves 3 or more organ systems
56
Q

Genetic disorder with a repeat of 3 nucleotides

A

Triplet Expansion Disorders

57
Q

Infected mother gives disease to all her children

A

Maternal inheritance pattern

58
Q

Mixture of mutated and nonmutated mitochondria

A

Heteroplasmy

59
Q

Either all mutated or all nonmutated mitochondria

A

Homoplasmy

60
Q

Organ systems usually affected are those that require a lot of ________

A

ATP

61
Q

Poor generalized tone, mutation on DPMK gene due to repeats

A

Myotonic Dystrophy

62
Q

Patient with slow removal of hand after a handshake

A

Myotonic Dystrophy

63
Q

Repeat of CTG disorder

A

Myotonic Dystrophy

64
Q

Distinct large ears, normal at birth but delay in speech (1st symptom) caused by constriction in one arm of the X chromosome

A

Fragile X chromosome

65
Q

Disorder with CGG repeat

A

Fragile X chromosome

66
Q

Huntington Disease

A

Triplet Expansion Disorder

67
Q

Only 1 copy of gene is expressed

A

Genomic Imprinting

68
Q

Chromosome 15, father

A

Prader-willi syndrome

69
Q

Fat (Michelin baby)

A

Prader, Willi syndrome

70
Q

Nonverbal, happy puppet syndrome, prone to seizures, picket fence teeth

A

Angelman syndrome

71
Q

Chromosome 15, mother

A

Angelman syndrome

Cell: Exam 3 (3 decks)

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