Genetics Flashcards

1
Q

Gene

A

Segments of DNA on a chromosome

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2
Q

Chromatid

A

One of two identical copies of a chromosome

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3
Q

Sister chromatids

A

two identical chromosomes

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4
Q

Centromere

A

Connects sister chromatids (at center)

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5
Q

Telomere

A

ends of chromosome, important for stability

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6
Q

Genotype

A

An organism’s genetic makeup

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7
Q

Phenotype

A

The physical appearance of the genotype

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8
Q

Non-Mendelian Inheritence

A

Inheritance pattern that does not follow Mendelian genetics (Codominance, incomplete dominance)

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9
Q

Human somatic cells

A
  • Diploid

- 200 different types

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10
Q

Germline cells

A

reproductive cells

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11
Q

Haploid cells

A

Cell with a single set of chromosomes

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12
Q

Diploid cells

A

Cell with two sets of chromosomes

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13
Q

Allele

A

A variant form of a given gene

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14
Q

Autosome

A

Chromosome common in both genders

i.e. one from each parent

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15
Q

Karyotype

A
  • The entire set of a person’s chromosomes

- In a picture, shown ad single condensed, or as a duplicated chromosome

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16
Q

Lyonization

A
  • aka X-inactivation

- When an X chromosome in females is inactivated — gene “turned off”

17
Q

Mosaicism

A

Two or more types of cells with different genotypes in one individual (i.e. Down syndrome, Klinefelter syndrome, Turner syndrome) — more than one genotype from same fertilized egg

18
Q

Embryonic stem cells

A
  • Cells with the potential to grow into many types of specialized cells
  • Pluripotent
19
Q

Adult Stem Cells

A

-Can only generate cells types in accordance with the tissues they reside

20
Q

Modes of Inheritance

A

1) Autosomal Dominant
2) Autosomal Recessive
3) X-Linked Recessive
4) Y-Linked Recessive

21
Q

Autosomal Dominant

A
  • 1 gene needed for expression
  • Affected offspring has one affected parent
  • Trait in every generation
  • Each individual has a 50% chance of inheriting the trait
22
Q

Autosomal Recessive

A
  • 2 copies of gene need to influence phenotype
  • 1 allele present = carrier
  • Two carries reproduce — 25% of being unaffected, 25% being affected, 50% unaffected carrier
23
Q

Mitochondrial DNA (mtDNA)

A
  • Encodes a variety of proteins for OxPhos
  • No introns present
  • Maternal inheritance
  • Mutation rate = 10x higher than nDNA
    - Lack of repair mechanisms
24
Q

Somatic cell mitosis (products)

A

Two genetically identical daughter cells

25
Q

Meiosis

A
  • Division of germ cell twice with one round of DNA replication for the purposes of sexual reproduction
  • Each daughter cell is haploid (reduces chromosomes by half) and genetically dissimilar
  • Males: sperm
  • Females: one egg and three polar bodies
26
Q

Homologous recombination

A

DNA crossover event between homologous chromosomes during meiosis, resulting in genetic variation in the daughter cells —- NEW COMBINATIONS OF GENES

27
Q

Ways to create genetic diversity in Meiosis

A

1) Homologous recombination

2) Random homolog segregation

28
Q

Errors of Meiosis

A

1) Polyploidy – cells contain extra set of chromosomes

2) Aneuploidy – cells contain and missing of additional individual chromosome (i.e trisomy 21)

29
Q

Nondisjunction

A

Failure of sister chromatids to separate normally during division, resulting in uneven chromosome distribution amongst daughter cells