Genetics Ch 5 Study Guide

Front 1

The chromosome complement of a cell or organism; often represented by an arrangement of metaphase chromosomes according to their lengths and the positions of their centromeres.

Back 1

karyotype

Front 2

Structure formed in meiosis I in a monoploid or a monosomic when a chromosome has no pairing partner.

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univalent

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A diploid organism with an extra copy of one of the chromosomes.

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trisomic

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Interchange of parts between nonhomologous chromosomes.

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reciprocal translocation

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Condition of an otherwise diplod organism in which one member of a pair of chromosomes is missing.

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monosomy

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The allelic form of each of a set of linked genes present in a single chromosome.

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haplotype

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Genetic element on the mammalian Y chromosome that determines maleness.

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testis- determining factor (TDF)

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Genetic element on the mammalian Y chromosome that determines maleness.

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mosaic

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Diagrammatic representation of a chromosome.

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cytological map

Front 10

A cell or organism in which the chromosome number is not an exact multiple of the haploid number; more generally, aneuploidy is a condition in which particular genes or chromosomal regions are present in extra or fewer copies compared with wildtype.

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aneuploid

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A chromosome with a centromere near one end.

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acrocentric chromosome

Front 12

A cell or organism with three complete sets of chromosomes.

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triploid

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In mammals, the genetic inactivation of all X chromosomes except one in each cell lineage, except in the very early embryo.

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single- active- x principle

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A pair of identical or closely related DNA sequences that are adjacent and in the same orientation.

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tandem duplication

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Formation of a polyploid through the fusion of normal gametes followed by endoreduplication of the chromosome sets in the hybrid.

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asexual polyploidization

Front 16

A cell or an organism having a chromosome number that is an exact multiple of the haploid number.

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euploid

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Formation of a polyploid through the fusion of unreduced gametes.

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sexual polyploidization

Front 18

Doubling of the chromosome complement because of chromosome replication and centromere division without nuclear or cytoplasmic division.

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endoreduplication

Front 19

The clinical features of human females with the karyotype 45,X.

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turner syndrome

Front 20

A chromosome whose centromere divides it into arms of unequal length.

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submetacentric chromosome

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A gene located in the X chromosome; X-linked inheritance is usually evident from the production of nonidentical classes of progeny from reciprocal crosses.

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x linked gene

Front 22

A chromosomal aberration in which the long arms of two acrocentric chromosomes become joined to a common centromere.

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robertsonian translocation

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Number of gene copies.

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gene dosage

Front 24

In human beings, the usual form of color blindness is X-linked red-green color bindness. Unequal crossing-over between the adjacent red and green opsin pigment genes results in chimeric opsin genes causing mild or severe green-vision defects (deuteranomaly or deuteranopia, respectively) and mild or severe red-vision defects (protanomaly or protanopia, respectively).

Back 24

color blindness

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A cell or organism of a species containing the set of chromosomes normally found in gametes.

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haploid

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A small mass of dividing cells formed from haploid cells in anthers that can give rise to a mature haploid plant.

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embryoid

Front 27

A structural aberration in a chromosome in which the order of several genes is reversed from the normal order. A pericentric inversion includes the centromere within the inverted region, and a paracentric inversion does not include the centromere.

Back 27

inversion

Front 28

A mechanism regulating X-linked genes such that their activities are equal in males and females; in mammals, random inactivation of one X chromosome in females results in equal amounts of the products of X-linked genes in males and females.

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dosage compensation

Front 29

A cell or organism with four complete sets of chromosomes; as in an autotetraploid, the chromosome sets are homologous; in an allotetraploid, the chromosome sets consist of a complete diploid complements from each of two distinct ancestral species.

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tetraploid

Front 30

In mammals, a small region of the X and Y chromosome containing homologous genes.

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pseudoautosomal region

Front 31

A group of genes present in a continuous region of chromosome in two or more species.

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synteny group

Front 32

The clinical features of the karyotype 47,XYY.

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double y syndrome

Front 33

Loss of a segment of the genetic material from a chromosome; also called deficiency.

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deletion

Front 34

The clinical features of the karyotype 47,+21 (trisomy 21).

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down syndrome

Front 35

The clinical features of the karyotype 47,XXX.

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trisomy- x syndrome

Front 36

A gene produced by recombination, chromosome rearrangement, or genetic engineering that is a mosaic of DNA sequences from two or more different genes.

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chimeric gene

Front 37

A condition in which a significant proportion of the gametophytes produced by a plant or of the zygotes produced by an animal are inviable, as in the case of a translocation heterozygote.

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semisterility

Front 38

A chemical that prevents formation of the spindle in nuclear division.

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colchicine

Front 39

A chromosome aberration in which a chromosome segment is present more than once in the haploid genome; if the two segments are adjacent, the duplication is a tandem duplication.

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duplication

Front 40

The basic chromosome set that is reduplicated to form the genomes of the species in a polyploid series; the smallest haploid chromosome number in a polyploid series.

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monoploid

Front 41

A giant chromosome consisting of many identical strands laterally apposed and in register, exhibiting a characteristic pattern of transverse banding.

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polytene chromosome

Front 42

A chromosome with no centromere.

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acentric chromosome

Front 43

Loss of a segment of the genetic material from a chromosome; also called deletion.

Back 43

deficiency

Front 44

Interchange of parts between nonhomologous chromosomes; also, the movement of mRNA with respect to a ribosome during protein synthesis. (See also Reciprocal translocation).

Back 44

translocation

Front 45

Crossing-over between nonallelic copies of duplicated or other repetitive sequences -- for example, in a tandem duplication, between the upstream copy in one chromosome and the downstream copy in the homologous chromosome.

Back 45

unequal crossing over

Front 46

A darkly staining body found in the interphase nucleus of certain cells of female mammals; consists of the condensed, inactivated X chromosome.

Back 46

barr body

Front 47

An inversion that includes the centromere.

Back 47

pericentric inversion

Front 48

Loop structure formed by synapsis of homologous genes in a pair of chromosomes, one of which contains an inversion.

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inversion loop

Front 49

A polyploid formed by hybridization between two different species.

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allopolyploid

Front 50

Type of segregation from a heterozygous reciprocal translocation in which a structurally normal chromosome segregates with a translocated chromosome. In adjacent-1 segregation, homologous centromeres go to opposite poles of the first-division spindle; in adjacent-2 segregation, homologous centromeres do to the same pole of the first-division spindle.

Back 50

adjacent segregation

Front 51

The clinical features of human males with the karyotype 47, XXY.

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klinefelter syndrom

Front 52

The condition of a cell or organism with more than two complete sets of chromosomes.

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polyploidy

Front 53

A cell or organism with six complete sets of chromosomes.

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hexaploid

Front 54

A chromosome with two centromeres.

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dicentric chromosome

Front 55

An organism whose cells contain more than two sets of homologous chromosomes.

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autopolyploid

Front 56

In human beings, the usual form of color blindness is X-linked red-green color bindness. Unequal crossing-over between the adjacent red and green opsin pigment genes results in chimeric opsin genes causing mild or severe green-vision defects (deuteranomaly or deuteranopia, respectively) and mild or severe red-vision defects (protanomaly or protanopia, respectively).

Back 56

red- green color blindess

Front 57

Structure formed by three homologous chromosomes in meiosis I in a triploid or trisomic chromosome when each homolog is paired along part of its length with first one and then the other of the homologs.

Back 57

trivalent

Front 58

Use of differentially labeled, chromosome-specific DNA strands for hybridization with chromosomes to label each chromosome with a different color.

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chromosome painting

Front 59

Segregation from a heterozygous reciprocal translocation in which both parts of the reciprocal translocation separate from both nontranslocated chromosomes in the first meiotic division.

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alternate segregation

Front 60

A class of genes found in certain viruses that predispose to cancer. Viral oncogenes are the viral counterparts of cellular oncogenes. (See also Cellular oncogene, Oncogene.)

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viral oncogene

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An inversion that does not include the centromere

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paracentric inversion

Front 62

A procedure for obtaining fetal cells from the amniotic fluid for the diagnosis of genetic abnormalities.

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amniocentesis

Front 63

A chromosome with its centromere about in the middle so that the arms are equal or almost equal in length.

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metacentric chromosome

Front 64

A chromosome with its centromere close to one end is ___

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acrocentric

Front 65

A chemical inhibitor of the formation of the mitotic spindle is___

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colchicine

Front 66

The inversion, in which the centromere is not included in the inverted region, is known as a____

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paracentric

Front 67

45, X0 is a condition known as___

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turner syndrome

Front 68

How many Barr bodies would be present in white blood cells of an individual of karyotype 48, XXXY?

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2

Front 69

The chromosome designation 2q refers to ____

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The long arm of chromosome 2

Front 70

Trisomy 21, which occurs in about 1 in 750 live-born children, is known as___

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Down syndrome

Front 71

n the species of Chrysanthemum with 36 chromosomes, the haploid chromosome number is___

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18

Front 72

An organism that is heterozygous for a reciprocal translocation is___

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semisterile

Front 73

Tandem duplications are able to produce even more copies of the duplicated region by means of a process called____

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Unequal crossing-over

Front 74

a chromosome with 2 centromeres is__

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dicentric

Front 75

a chromosome with no centromere is___

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acentric

Front 76

an inactive X chromosome is a ___

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Barr body

Front 77

the set of alleles at 2 or more loci on a chromosome is___

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haplotype

Front 78

an unbalanced chromosome complement is ____

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Aneuploid

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all chromosomes derive from a single diploid ancestral species___

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autopolyploidy

Front 80

composite of two genes, produced by crossing over ___

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chimeric gene

Front 81

complete sets of chromosomes from 2 or more different ancestral species ___

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allopolyploid

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chromosome number that is a multiple of the haploid number___

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Euploid

Front 83

A special type of nonreciprocal translocation in which the centromeric regions of 2 nonhomologous chromosomes acrocentric chromosomes become fused to form a single centromere is___

Back 83

robertsonian translocation

Front 84

a chromosome abnormality where the genes are in reverse order is ____

Back 84

an inversion

Front 85

these apply to red- green color blindness___

Back 85

(1) red and green pigments are 96% identical in amino acid sequence (2) individuals may contain chimeric genes (3) X-linked inheritance (4) caused by duplication and deletion of genes and unequal crossing over

Front 86

true for a chromosome with a deletion___

Back 86

(1) generally harmful to the organism, the larger the deletion the greater the harm (2)chromosome with genes missing, a segment missing (3) in the heterozygote, can "uncover" recessive alleles

Front 87

monosomy of the x chromosome in females, 45,X. ___

Back 87

Turner syndrome

Front 88

47, XXY____

Back 88

Klinefelter syndrome

Front 89

47, XYY

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Double-Y syndrome

Front 90

47,XXX

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Trisomy-X syndrome

Front 91

Reasons to make sure that your beverage can or water bottle is labeled BPA free are___

Back 91

1) Bisphenol A monomers causes aneuploidy in mice (increased chance of a chromosome(s) to not line up on the metaphase plate correctly) (2) estrogen mimic

Front 92

Trisomic chromosomes undergo normal segregation. true or false?

Back 92

false

Front 93

The male determining gene, SRY, at Yp11.3, is located where?

Back 93

The Y chromosome on the petite arm at band 11