Genes & Genetic Mutations

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Genetics

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Study of biologic inheritance

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Chromatin

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Substance giving the nucleus a granular appearance, forms chromosomes

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48 Terms

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Genetics

Study of biologic inheritance

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Chromatin

Substance giving the nucleus a granular appearance, forms chromosomes

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Down Syndrome is trisomy?

Trisomy 21

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Down syndrome is what?

Autosomal aneuploidy

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Down syndrome characteristics

  • Pregnancy in women older than 35 years
  • Flat facial profile
  • Growth failure
  • Leukemia risks
  • Heart problems
  • Mental retardation ranges
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Down syndrome affects what sexes?

Both sexes affected equally

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Turner syndrome is what?

Sex aneuploidy

  • X, 45
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Turner syndrome characteristics?

  • Short stature
  • Webbed neck
  • No menstrual cycles
  • Broad chest
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Turner syndrome affects what sex?

Females only

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Klinefelter syndrome is what?

Sex aneuploidy

  • XXY, 47
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Klinefelter syndrome characteristics?

  • Gynecomastia
  • Tall frame
  • Wide hips
  • Long arms and legs
  • No facial hair
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Klinefelter affects what sex?

Males only

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Cri du chat syndrome is what?

Autosomal deletion (of chromosome 5)

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Cri du chat syndrome characteristics?

  • Crying sounds like a "cat"
  • Heart defects
  • Microcephaly
  • Severe mental retardation
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Cri du chat syndrome affects what sex?

Both sexes

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Autosomal dominant diseases?

  • Huntington disease
  • Neurofibromatosis/von Recklinghausen disease
  • Marfan's syndrome
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Autosomal aneuploidy diseases?

Down syndrome (trisomy 21)

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Sex chromosome aneuploidy diseases?

*X is always dominant here

  • Turner syndrome
  • Klinefelter syndrome
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Autosomal recessive diseases?

  • Cystic fibrosis
  • Sickle cell disease
  • PKU
  • Tay-Sachs disease
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Sex-linked inheritance/X-linked recessive diseases?

Hemophilia

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Locus

Position of a gene

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Gene

Unit of heredity

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Alleles

Variation of a gene

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Homozygous dominant

AA

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Heterozygous dominant

Aa

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Homozygous recessive

aa

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How many pairs of chromosomes?

23

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How many total chromosomes?

46

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How many autosomes?

22 autosomes

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How many pairs of sex chromosomes?

1 pair (either XX or XY)

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Aneuploidy

The presence of, or absence of one or more chromosomes; does not contain a multiple of 23 chromosomes

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Monosomy

Presence of only one copy of any chromosome
*LETHAL

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Trisomy

A cell containing 3 copies of one chromosome

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Nondisjunction

Cause of an aneuploidy, failure to separate properly during mitosis/meiosis

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Penetrance

Percentage of individuals with a specific genotype with expected phenotype; the probability of a trait being expressed

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Incomplete penetrance

Individual who has a gene for a disease but does not express the disease

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Expressivity

Extent of variation in a phenotype associated with a genotype; variation in phenotypic expression

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Autosomal dominant diseases do not…

Skip generations

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Huntington disease traits

*Autosomal dominant

  • Chromosome 4
  • Degenerative disorder of the cerebral cortex
  • 5 year survival
  • CHOREA
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Neurofibromatosis traits?

*Autosomal dominant

  • Chromosome 17
  • Cafe au lait
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Consanguinity

Mating of 2 related individuals

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Cystic fibrosis traits

*Autosomal recessive

  • Most common in Caucasians
  • Defective CFTR gene
  • Lungs and digestive tract affected
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Sickle cell disease traits?

*Autosomal recessive

  • Most common in African Americans
  • Deoxygenation in RBCs lead to sickle shape
  • Has decreased recently
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Hemophilia traits?

*X-linked

  • Serious bleeding disorder
  • Inherited from MOTHER --> SON
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X-Linked disorders differences?

*Are recessive disorders

*AFFECTED MOTHER --> SON
*AFFECTED FATHER --> ALL DAUGHTERS AFFECTED

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Autosomal recessive diseases do…

Skip generations and have carriers

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Autosomal recessive disease parents?

Both parents are usually heterozygous carriers
*Recurrence risk is ~25% for offspring

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Recurrence risk

The probability that an individual will develop a genetic disease

*Ex: Autosomal dominant, 1 parent affected, 1 parent normal = 1/2 for each child