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Human Genetics > 8. Variation in Chromosome Structure and Number > Flashcards

8. Variation in Chromosome Structure and Number Flashcards

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Biology 101 flashcards
1
Q

genetic differences among members of the same species or among different species.

A

Genetic Variation

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2
Q

genetic variation in a population that involves the occurrence of two or more different alleles for a particular gene.

A

Allelic Variation

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3
Q

a scientist who studies chromosomes under the microscope.

A

Cytogeneticist

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4
Q

describes a chromosome with the centromere near the middle.

A

Metacentric

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5
Q

describes a chromosome in which the centromere is slightly off center.

A

Submetacentric

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6
Q

describes a chromosome with the centromere significantly off center, but not at the end.

A

Acrocentric

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7
Q

describes a chromosome with its centromere at one end.

A

Telocentric

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8
Q

a photographic representation of all the chromosomes within a cell. It reveals how many chromosomes are found within an actively dividing somatic cell.

A

Karyotype

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9
Q

the chromosomal banding pattern that is observed when the chromosomes have been treated with the chemical called Giemsa stain.

A

G Bands

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10
Q

condition in which a segment of DNA is missing.

A

Deletion

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11
Q

condition in which a segment of chromosomal material is missing.

A

Deficiency

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12
Q

the repetition of a segment of DNA more than once within a chromosome and/or within a genome.

A

Duplication

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13
Q

a change in the orientation of genetic material along a chromosome such that a segment is flipped or reversed from the normal order.

A

Inversion

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14
Q

(1) rearrangement in which one segment of a chromosome breaks off and becomes attached to a different chromosome or a different part of the same chromosome; (2) event that occurs when a ribosome moves from one codon in an mRNA to the next codon.

A

Translocation

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15
Q

rearrangement in which one piece of a chromosome becomes attached to a different chromosome.

A

Simple Translocation

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16
Q

rearrangment in which two different chromosomes exchange pieces.

A

Reciprocal Translocation

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17
Q

deletion in which a segment is lost from the end of a linear chromosome.

A

Terminal Deletion

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18
Q

deletion in which an internal segment is lost from a linear chromosome.

A

Interstitial Deletion

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19
Q

short DNA sequences that occur many times within a species’ genome.

A

Repetitive Sequences

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20
Q

recombination that occurs at homologous sites within chromosomes, where the sites are not alleles of the same gene. Such misaligned crossovers are often due to the occurrence of repetitive sequences.

A

Nonallelic Homologous Recombination

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21
Q

an increase in the copy number of a gene. Can lead to the evolution of gene families.

A

Gene Duplication

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22
Q

two or more genes within a single species that are similar to each other because they were derived from the same ancestral gene.

A

Gene Family

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23
Q

describes attributes that are the result of homology. In the case of genes, this term describes two genes that are derived from the same ancestral gene.

A

Homologous

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24
Q

homologous genes within a single species that constitute a gene family.

A

Paralogs

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25
Q

a type of structural variation in which a segment of DNA that is 1000 bp or more in length commonly exhibits copy number differences among members of the same species.

A

Copy Number Variation (CNV)

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26
Q

a duplication in which a small segment of a chromosome has more than one copy of the same gene.

A

Segmental Duplication

27
Q

a hybridization technique to determine if cells (e.g., cancer cells) have changes in chromosome structure, such as deletions or duplications.

A

Comparative Genomic Hybridization (CGH)

28
Q

the phenomenon in which two single-stranded DNA molecules from different sources bind to form a hybrid molecule.

A

Hybridization

29
Q

an inversion in which the centromere is located within the inverted region of the chromosome.

A

Pericentric Inversion

30
Q

an inversion in which the centromere is found outside the inverted region.

A

Paracentric Inversion

31
Q

a change in phenotype that occurs when the location of a gene changes from one chromosomal site to a different one.

A

Position Effect

32
Q

a diploid individual that carries one normal chromosome and a homologous chromosome with an inversion.

A

Inversion Heterozygote

33
Q

the loop structure that is formed when the homologous chromosomes of an inversion heterozygote attempt to align themselves (i.e., synapse) during meiosis.

A

Inversion Loop

34
Q

a fragment of a chromosome that lacks a centromere.

A

Acentric Fragment

35
Q

describes a chromosome with two centromeres.

A

Dicentric

36
Q

the region between the two centromeres in a dicentric chromosome.

A

Dicentric Bridge

37
Q

specialized repeated sequences found at the ends of eukaryotic chromosomes.

A

Telomeres

38
Q

a translocation, such as a reciprocal translocation, in which the total amount of genetic material remains normal or nearly normal.

A

Balanced Translocation

39
Q

a translocation in which a cell has too much or too little genetic material compared with a normal cell.

A

Unbalanced Translocation

40
Q

the structure produced when two telocentric chromosomes fuse at their short arms.

A

Robertsonian Translocation

41
Q

the structure that is formed when chromosomes that have undergone a reciprocal translocation attempt to synapse during meiosis. This structure contains two normal (nontranslocated) chromosomes and two translocated chromosomes. A total of eight chromatids are found within the cross.

A

Translocation Cross

42
Q

condition in which an individual has a lowered fertility.

A

Semisterility

43
Q

describes an organism in which the chromosome number is an exact multiple of a chromosome set.

A

Euploid

44
Q

describes an organism or cell with three sets of chromosomes.

A

Triploid

45
Q

describes an organism or cell with four sets of chromosomes (i.e., 4n).

A

Tetraploid

46
Q

describes an organism or cell with three or more sets of chromosomes.

A

Polyploid

47
Q

not euploid. Refers to a variation in chromosome number such that the total number of chromosomes is not an exact multiple of a set (or of the number n).

A

Aneuploid

48
Q

describes a diploid cell or organism with one extra chromosome (i.e., 2n + 1).

A

Trisomic

49
Q

describes a diploid cell or organism that is missing a chromosome (i.e., 2n − 1).

A

Monosomic

50
Q

event in which chromosomes do not segregate properly during mitosis or meiosis.

A

Nondisjunction

51
Q

describes a species, such as certain bees, in which one sex is haploid (e.g., male) and the other sex is diploid (e.g., female).

A

Haploidiploid

52
Q

in a diploid individual, the phenomenon in which certain cells of the body are polyploid.

A

Endoplolyploidy

53
Q

aggregation of chromosomes found in certain cells, such as Drosophila salivary cells, in which homologous chromosomes have synapsed and replicated many times and the copies lie side by side.

A

Polytene Chromosome

54
Q

the central point where the chromosomes of a polytene chromosome aggregate.

A

Chromocenter

55
Q

the event in which chromosomes do not segregate properly during meiosis.

A

Meiotic Nondisjunction

56
Q

an event in which chromosomes do not segregate properly during mitosis.

A

Mitotic Nondisjunction

57
Q

describes an organism that contains sets of chromosomes from two or more different species.

A

Alloploid

58
Q

event in which all of the chromosomes fail to segregate properly during meiosis or mitosis and remain in one of the two daughter cells.

A

Complete Nondisjunction

59
Q

condition in which the cells of part of an organism differ genetically from those of the rest of the organism.

A

Mosaicism

60
Q

a polyploid produced within a single species due to nondisjunction.

A

Autopolyploid

61
Q

describes an organism that contains one set of chromosomes from two different species.

A

Allodiploid

62
Q

describes an organism that contains two (or more) sets of chromosomes from two (or more) species.

A

Allopolypoid

63
Q

describes an organism that contains two sets of chromosomes from two different species.

A

Allotetraploid

64
Q
A

Human Genetics (13 decks)

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