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MCM > Principle of Gen, Seidler > Flashcards

Principle of Gen, Seidler Flashcards

1
Q

Genes

A

segment of DNA in chromosome

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2
Q

Locus (loci)

A

where gene occupies on chromosome

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3
Q

Telomere

A

region at end of chromosome for stability

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4
Q

Somatic Cells

A

diploid

differentiated, have a specific destination tissue

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5
Q

Stem cells

A

undifferentiated cells that can divide into 2 diploid cells

not sure what they will be yet

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6
Q

Homologous chromosomes

A

pair of chromosomes

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7
Q

Mosaicism

A

cells from patient have a different genotype (and karyotype)

ex: downs syndrome, klinefelter syndrome, turner syndrome,

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8
Q

Lyonization (X-inactivation)

A

random choice of which X chromosome is to be inactivated

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9
Q

Cell Cycle

A

Interphase-
G1: Cell growth and differentiation

S: synthesis of DNA, duplication of chromosomes

G2: cell growth and prep for cell division

Mitotic cell division
prophase, metaphase, anaphase, telophase, cytokinesis

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10
Q

Non-disjunction

A

failure of one or more pairs of homologous chromosomes or sister chromatids to separate normally during divison

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11
Q

Autosomes

A

chromosomes codon in both genders, one from each parent

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12
Q

Meiosis genetic diversity

A

Random segregation of homologs

Cross-over exchange

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13
Q

Aneuploid

A 
cells with abnormal chromosome number
    Trisomy 21: (down syndrome) 
     additional 21 (70% in Meiosis 1)
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14
Q

Down Syndrome

A

Trisomy type: 47, XX +21

Robertsonian Translocation: 46, XX der(14:21) +21

Mosaic Type: 46,XX/47,XX+21

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15
Q

Klinefelter Syndrome

A

47XXY compared to 46XY

extra X chromosome, boy has girl features (lack testosterone, breast growth, little hair)

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16
Q

Turner Syndrome

A

45X0 compared to 46XX

girl lacking X chromosome
delayed puberty, small stature…

17
Q

Uniparental Disomy

A

2 chromosomes from the same parent have parent-specific imprinting = no gene product

ex: Prader Willi, Angelman, Beckwith-Wiedemann

18
Q

Prader Willi Syndrome

A

chromosome 15

paternal chromosome is deleted
get both 15’s from mother

19
Q

Angelman Syndrome

A

chromosome 15

maternal chromosome is deleted
get both 15’s from father

20
Q

Beckwith-Wiedemann

A

chromosome 11 uniparental disomy

21
Q

Genetic Mechanisms of Disease

A

Loss of Function = Duchenne Muscular Dystrophy
Gain of Function = Cancer
Protein Alteration = Sickle Cell Anemia

22
Q

Cystic Fibrosis

A

individuals with distinct genotypes can have single phenotype (different classes result in CF)

23
Q

PKU

A

individuals with same genotype can have multiple phenotypes

very specific defect
Tyr exposure
Phe removal/transportation etc…

24
Q

Autosomal Dominant

A

pedigree shows trait in every generation

only 1 allele for trait is needed, 50%

Postaxial Polydactly

25
Q

Autosomal Recessive

A

consanguinity more likely to cause occurrence

2 copies of allele is needed for phenotype, 25%

Tyrosinase-negative/deficiency
Albinism

26
Q

X-linked Recessive

A

unaffected males don’t transmit, never carriers

female carriers can transmit 50% sons and daughters

all daughters of affected males are heterozygous carriers

Duchenne Muscular Dystrophy

27
Q

X-linked Dominant

A

rare, no carriers

affected males transmit 100% only to females

Hypophosphatemia
leads to Rickets in children
soft bone, bad absorption of Ca and phosphate

28
Q

Penetrance

A

Frequency that a gene manifests itself
some cases = 100%
some are less

29
Q

Reduced penetrance

A

Retinoblastoma (also autosomal dominant)

phenotype occurs in 90% of individuals inheriting the genetic defect (90% penetrance)

30
Q

Variable expressivity

A

the range of phenotypes that vary between individuals of a specific genotype

Neurofibromatosis
tumor like growths (Cafe-au-laits spots)

31
Q

Locus Heterogenity

A

single disorder, trait, or pattern of traits caused by mutations in genes at different chromosome loci

Osteogenesis Imperfecta
brittle bone disease
mutations in 7 and 17 loci, either produces this disease

32
Q

Gene Frequency (Allele Frequency)

A

the proportions of each allele in a population

A or a

33
Q

Genotype frequency

A

the proportions of each genotype in a population

AA vs Aa vs aa

34
Q

Hardy Weinberg Principle

A

p2 (squared) = AA frequency

q2 (squared) = aa frequency

2pq = Aa frequency

p + q = 1

35
Q

Multifactorial Disease

A

caused by simultaneous influence of multiple genetic and environmental factors

MCM (6 decks)

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