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
Q

example of pleiotropsim?

A

marfan syndrome
- disease affects more than one bodily tissue/organ

26
Q

what is Medels first law of segregation?

A

individuals posses two alleles and a parent passes only one allele to his/her offspring
(matter of chance what allele is inherited)

27
Q

what is Mendels (second law) law of independent assesment?

A

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
Q

what is meiosis?

A

A special form of cell division in which each daughter cell receives half the amount of DNA as the parent cell

29
Q

what is recombination?

A

occurs early in meiosis and increases genetic diversity

30
Q

what can recombination be disrupted by?

A

linkage

31
Q

when does linkage occur?

A

when genes that are close to each other are assorted together during meiosis

32
Q

when are genes more likely to recombine?

A

genes that are further apart= more likely to be recombined

33
Q

what are some characteristics of sex-linked traits?

A
  • greater in males
  • sons cannot inherit X allele from father (little father son resemblance of trait)
  • skip a generation
  • new mutations in gametes
34
Q

what does sex linked (X-linked) transmission involve?

A

genes found on the unmatched (Y) portion of the X chromosome

35
Q

what are some chromosome anomalles?

A

nondisjunction: uneven number of chromosomes divide (during gamete formation)

36
Q

most common chromosome anomally (nondisjunction)?

A

down syndrome

37
Q

what are expanded triple repeats?

A

unstable mutations involving a repeating sequence of DNA
ex; CGG/CGG/CGG

38
Q

higher number of triple repeats = ??

A

more problems in functioning

39
Q

what is genetic anticipation?

A

successive generations show increasingly severe forms of the disease (usually because of triplet expansions)

40
Q

what is genomic imprinting?

A

expression of gene depends on whether it is inherited from mom or dad