Lecture 1 Flashcards

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1
Q

pre-formationists

A

ovists (full-ass baby in the egg) vs. animaculists (full-ass baby in sperm)

One sex fully responsible for offspring. Founded by Von Leeuwenhoek in 18th century.

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2
Q

blending inheritance

A

Inheritance in which no component is obtrusive– blending of characteristics from both egg and sperm. (19th century)

KEY COMPONENT– you can never produce an offspring with similar phenotypes to parents

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3
Q

Law of Segregation

A

ONLY APPLIES TO ALLELIC STATE OF A SINGLE GENE

only one allele from each parent is assigned to the gamete

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4
Q

Three Components of Mendel’s system

A

1) Homozygosity of alleles controlling phenotype of interest
2) Paternity must be controlled and known
3) All genotypes should be equally fertile

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5
Q

gene

A

any sequence of nucleotides in a genome that encodes for a functional RNA

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6
Q

gene locus

A

position of the nucleotides for a specific gene on a chromosome

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7
Q

allele

A

one or more alternate forms of a gene that can exist at a single gene locus for a single gene

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8
Q

dominant allele

A

expresses its phenotypic effect in a heterozygote

  • A haploid organism only has one copy of every gene so it is neither homozygous or heterozygous.*
  • An allele is neither dominant nor recessive if the heterozygote looks different from either homozygote.*
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9
Q

wild-type

A

genotype or phenotype most commonly found in nature OR a lab

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10
Q

Law of Independent Assortment

A

This law states that for each allelic pair of multiple genes (on separate chromosomes!!), segregation is independent for each gene during the formation of gametes.

i.e. One gene’s separation does not impact another one (they are not linked!!)

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11
Q

Forward Genetics

A

Genes are first identified by mutant alleles and mutant phenotypes and later cloned and subjected to molecular analysis.

biological process -> mutant phenotype -> gene

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12
Q

Reverse Genetics

A

Begins with cloned DNA segment or protein amino acid sequence and uses directed mutagenesis to introduce altered genes back into the genome to investigate function.

gene–>phenotype–>biological process

CRISPR

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13
Q

Simple dominance

A

an allele is dominant if it has the same phenotypic effect in heterozygotes and homozygotes

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14
Q

haplosufficient

A

in a diploid cell, an allele that can promote wild-type function with only one copy (common case)

+/a is sufficient to produce wild-type function

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15
Q

haploinsufficient

A

in a diploid cell, an allele that cannot promote wild-type function with only one copy (rare)–often tied to dominant mutations

a null (amorphic) allele produces no normal RNA or protein product– can be deadly

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16
Q

mutation

A

permanent change in DNA that makes up a gene

range in size from a single nucleotide to entire sets of chromosome

17
Q

De novo mutations

A

Not inherited mutations– occur just after fertilization, no family history

Can still get passed down because they occur only in an egg or sperm cell

18
Q

germline mutation

A

inherited and occur in testes and ovaries, will be passed on to children

All cells affected in offspring

19
Q

somatic mutation

A

occur in body cells– not inherited but could still affect the person during their lifetime

Cancer is a somatic mutation

20
Q

Chromosomal Theory of Inheritance

A

chromosomes are the vehicles of genetic heredity. Neither Mendelian genetics nor gene linkage is perfectly accurate; instead, chromosome behavior involves segregation, independent assortment, and occasionally, linkage.

21
Q

chromosome

A

typically, a linear double-stranded DNA molecule complexed with proteins that moves as an independent unit during mitosis and meiosis.

22
Q

sister chromatids

A

One of two visibly distinct, side-by-side and genetically identical copies of a replicated chromosome. Joined at their centromeres.

23
Q

centromere

A

A chromosomal locus that regulates chromosome movement during mitosis and meiosis. Sister chromatids are joined together by a common centromere.

24
Q

kinetichore

A

A specialized structure that forms at the centromere. It links chromatids to the spindle microtubules

25
Q

homologous chromosomes

A
  • contain the same arrangement of genes
  • identical in visible structure
  • pair during meosis I
  • In nature, not usually identical but typically exhibit allelic differences (maternal & paternal)
  • CAN ALSO REFER TO– Chromosomes in different species that have retained most of the same genes during their evolution from a common ancestor*
26
Q

Theodor Boveri linked ____ and ______ for the first time.

A

chromosomes and heredity.

Saw segregation for the first time

27
Q

sex chromosome

A

presence or absence is correlated with the sex of the organism, plays role in sex determination

28
Q

autosome

A

any chromosome not a sex chromosome

29
Q

Trisomy X

A

XXX, does not seem to impact fertility

30
Q

Klinefelter

A

XXY, male

in humans, SRY gene determines male (on the Y chromosome)

31
Q

Turner

A

XO, female, no Y chromosome to hold the SRY gene

32
Q

In drosophila, the XO fly is a ____.

A

sterile male. In flies, Y chromosome is not involved in sex determination but it is required for male sexual function.

33
Q

hemizygous

A

biological sexes with 2 different chromosomes, ex. males are X,Y for humans

males more likely to show mutant phenotype

34
Q

nondisjunction

A

when homologous chromosomes fail to separate (or sister chromatids fail to separate in mitosis)