Mendelian Inheritance Flashcards

1
Q

what is a trait?

A

a feature or characteristic of an individual

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2
Q

what is your phenotype?

A

what is actually expressed or observed

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3
Q

what is your genotype?

A

the set of genes/alleles for a particular trait

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4
Q

what are qualitative traits?

A

the phenotype is either present or its not, often only a single gene

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5
Q

example of qualitative trait?

A

ability to roll tounge

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6
Q

what are quantitative traits?

A

the phenotype is expressed along a continuum, usually multiple genes involved, more complex patterns of inheritance

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7
Q

example of quantitative traits?

A

skin color, weight

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8
Q

what are alleles (variants)?

A

alternative forms of a gene (often more than 2 forms)

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9
Q

example of an allele?

A

human ABO blood group system; persons with type AB blood have one allele for A and one for B

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10
Q

what are homologous chromosomes?

A
  • chromosome pairs, one from each parent, that are similar in length, gene position and centromere location
  • carry the same gene in the same order, but the alleles for each gene may differ
  • (1-22)
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11
Q

what is homozygosity?

A

same alleles at a given locus

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12
Q

what is heterozygosity?

A

different alleles at a given locus

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13
Q

what are dominant alleles?

A

only one allele is expressed

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14
Q

what are recessive alleles?

A

the weaker allele is not expressed unless both recessive alleles are present

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15
Q

example of dominant alleles?

A

baldness, tougne roll, dimples

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16
Q

example of recessive alleles?

A

most congenital diseases

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17
Q

what is incomplete dominance?

A

when a dominant allele, or form of a gene, does not completely mask the effects of a recessive allele, and the organism’s resulting physical appearance shows a blending of both alleles
(the heterozygous phenotype is intermediate to those of either homozygote parent)

18
Q

example of incomplete dominance?

A

red flower and white flower breed to create pink flower

19
Q

what is co-dominance?

A

when two (or more) dominant alleles affect the phenotype in separate ways

20
Q

example of co-dominance?

A

AB blood type

21
Q

what is penetrance of a genotype?

A

the probability that a person exhibits a phenotype given the person has a genotype

22
Q

what is incomplete penetrance?

A

when the probability of having the disorder is significantly less than 100%

23
Q

what is variable expressivity?

A

a single gene results in a range of phenotypic values

24
Q

what is pleiotropism?

A

occurs when a single cell influences more than a single gene

25
example of pleiotropsim?
marfan syndrome - disease affects more than one bodily tissue/organ
26
what is Medels first law of segregation?
individuals posses two alleles and a parent passes only one allele to his/her offspring (matter of chance what allele is inherited)
27
what is Mendels (second law) law of independent assesment?
alleles of different genes assort (get doled out) independently of one another during gamete formation (one gene/allele inheritance does not effect other gene/allele inheritance- it is independent)
28
what is meiosis?
A special form of cell division in which each daughter cell receives half the amount of DNA as the parent cell
29
what is recombination?
occurs early in meiosis and increases genetic diversity
30
what can recombination be disrupted by?
linkage
31
when does linkage occur?
when genes that are close to each other are assorted together during meiosis
32
when are genes more likely to recombine?
genes that are further apart= more likely to be recombined
33
what are some characteristics of sex-linked traits?
- greater in males - sons cannot inherit X allele from father (little father son resemblance of trait) - skip a generation - new mutations in gametes
34
what does sex linked (X-linked) transmission involve?
genes found on the unmatched (Y) portion of the X chromosome
35
what are some chromosome anomalles?
nondisjunction: uneven number of chromosomes divide (during gamete formation)
36
most common chromosome anomally (nondisjunction)?
down syndrome
37
what are expanded triple repeats?
unstable mutations involving a repeating sequence of DNA ex; CGG/CGG/CGG
38
higher number of triple repeats = ??
more problems in functioning
39
what is genetic anticipation?
successive generations show increasingly severe forms of the disease (usually because of triplet expansions)
40
what is genomic imprinting?
expression of gene depends on whether it is inherited from mom or dad