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Genetics Block 2 > Chapter 7: Patterns of Single-Gene Inheritance > Flashcards

Chapter 7: Patterns of Single-Gene Inheritance Flashcards

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Biology 101 flashcards
1
Q

Location on a chromosome for a segment of DNA or a gene

A

Locus

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2
Q

-alternate variants of a gene

A

Alleles

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3
Q

-permanent change in the nucleotide sequence or arrangement of DNA

A

Mutation

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4
Q

-group of alleles at two or more closely linked loci on a chromosome

A

Haplotype

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5
Q

-exhibited when a locus has at least 2 relatively common alleles (frequencies greater than 0.01) in the population

A

Polymorphism

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6
Q

genetic constitution of an individual, either overall or at a specific locus

A

Genotype

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7
Q

-observable expression of a genotype as a morphological, clinical, cellular, or biochemical trait

A

Phenotype

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8
Q

-expression of a single abnormal gene produces multiple diverse phenotypic effects  the connection is often not obvious or understood

A

Pleiotropic

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9
Q

-determined by the alleles at a single locus

A

Single-gene disorder

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10
Q

-when a pair of alleles at a locus are identical

A

Homozygous

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11
Q

-when two alleles are different at a particular locus

A

Heterozygous

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12
Q

-person with two different mutant alleles at a locus

A

Compound heterozygote

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13
Q

-genes and gene loci present in only one copy in an individual  e.g. most genes on the sex chromosomes for males

A

Hemizygous

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14
Q

-graphic representation of the family tree using standard symbols

A

Pedigree

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15
Q

-the extended family depicted in a pedigree

A

Kindred

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16
Q

(synonyms: propositus or index case)-first person in a pedigree to be identified clinically as having the disease in question

A

Proband

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17
Q

-first cousins

A

Third degree relatives

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18
Q

-grandparents and grandchildren, uncles and aunts, nephews and nieces, and half-sibs

A

Second degree relatives

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19
Q

-parents, sibs, and offspring of the proband

A

First degree relatives

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20
Q

-brothers and sisters, a family of sibs forms a sibship

A

Sibs

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21
Q

-person who brings the family to attention by consulting a geneticist

A

Consultand

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22
Q

-describes mating between descendants of a common ancestor

A

Consanguineous

23
Q

-if there is only one affected member in a family

A

Isolated Case

24
Q

-occurrence of a disease in a family with no apparent genetic transmission pattern (often the result of a new mutation)

A

Sporadic case

25
Q

-measure of the impact of a condition on reproduction-refers to the probability (between 0.0 and 1.0) that a gene will be passed on to the next generation

A

Fitness

26
Q

Who is mostly affected with X-linked recessive inheritance?

A

Males

27
Q

What are most Recessive disorders due to?

A

loss of function mutations

28
Q

the frequency or probability of expression of an allele, failure to express a phenotype at less than 100% is reduced

A

Penetrance

29
Q

production of the same or similar phenotyes by different genotypes at the same or at a different loci

A

genetic heterogeneity

30
Q

different mutations within the same gene (at the same locus)

A

allelic heterogeneity

31
Q

the production of identical or similar phenoytypes by mutations at two or more different genes

A

locus heterogeneity

32
Q

Expressed when only one chromosome of a pair carries the mutant allele and the other chromosome has the wild-type allele

A

dominant

33
Q

Expressed only when both chromosomes of a pair carry mutant alleles at a locus

A

recessive

34
Q

genoytype in which two different mutant alleles of the same gene are present

A

compound heterozygote

35
Q
A

Male

Female

Sex Unspecified

of children of sex indicated

Affected

Non penetrant carrier may manifest disease

Obligate carrier, will not manifest disease

36
Q
A

Proband

Deceased Individual

Stillbirth

Adopted into family

Adopted out of family

Arrow indicates consultand seeking counseling

Spontaneous Abortion

37
Q
A

Marriare or union

Divorced

Consanguinuity

Monozygotic twins

Dizygotic twins

twins of unknown zygosity

38
Q
A

Pedigree w/ generations & individuals numbered

Miscarraiage

No offspring

Multiple Unions

Pregnancy with information on dates if available

Termination of pregnancy

39
Q

the degree of phenotypic expression of a gene or genotype

A

Expressivity

40
Q

When the severity of the disease differs in people who have the same gene alteration, even within the same family

A

Variable Expressivity

41
Q

absence of expressivity

A

nonpenetrance

42
Q
  • occurs only in homozygotes or compound heterozygotes -> 2 mutant alleles
  • one normal gene is able to compensate for the mutant gene
  • must have inherited a mutant allele from each parent
A

autosomal recessive

43
Q
  • expressed when only one chromosome of a pair carries the mutant allele and the other chromosome has the wild-type allele
  • make up more than half of mendellian disorders
  • incidence is very high
A

Autosomal Dominance

44
Q

-typically expressed phenotypically in all males who inherit it, but only in females who are homozygous (herterozygous females are usually unaffected)

A

X-linked recessive mutations

45
Q

-NO male to male transmission; all of the daughters are affected

A

X-linked dominant

46
Q
  • mimics autosomal inheritance
  • mutation can cross-over from the X to the Y during male gametogenesis
A

Psuedoautosomal Inheritance

47
Q
  • caused by a mutatoin that occured after conception and the patient has normal parents
  • Ex: segmental neurofibromatosis
A

somatic mosaicism

48
Q

parent is phenotypically normal and tests negative for being a carrier, but has more than one child with a highly penetrant AD or X-linked disorder

-Ex: OI, Hemopilila A and B, DMD

A

Germline mosaicism

49
Q
  • characterized by an expansion within the affected gene of a segment of DNA with repeating units of 3 or more nucleotides
  • disease results when the number of repeats underoges expansion leading to abnormal gene expression and/or function
  • results in more than a dozen morsly neurological disorders; polygultamine disorders
A

Unstable Repeat Expansions

50
Q

earlier onset of disease in later generations

A

anticipation

51
Q

-multiple copies of mtDNA replicate during cell division and sort randomly among newly synthesized mitochondria which are distributed randomly between 2 daughter cells

A

Replicative segregation

52
Q

where a daughter cell receives mitochondria that contain only a pure population of either normal or mutant mtDNA

A

homoplasmy

53
Q

daughter cell receives a mixture of mitochondria, some with and some without the mutation

A

heteroplasmy

Genetics Block 2 (6 decks)

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