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Pathophysiology Test 1 > Chapter 4: Genes, Gene-environment Interaction, And Epigenetics > Flashcards

Chapter 4: Genes, Gene-environment Interaction, And Epigenetics Flashcards

1
Q

The basic unit of inheritance

A

Genes

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2
Q

Name the four nitrogenous bases

A

Adenine (A)
Cytosine (C)
Guanine (G)
Thymine (T)

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3
Q

Each DNA subunit—consisting of one deoxyribose molecule, one phosphate group, and one base

A

Nucleotide

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4
Q

This consists of the breaking of the weak hydrogen bonds between the bases, leaving a single stand with each base unpaired

A

DNA replication

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5
Q

This enzyme travels along the subtle DNA strand, adding the correct nucleotides to the free end of the new strand

A

DNA polymerase

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6
Q

Any inherited alteration of genetic material

A

Mutation

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7
Q

A large number of agents that can increase the frequency of mutations

A

Mutagens

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8
Q

The transport of the DNA code from nucleus to cytoplasm and the subsequent protein formation involves these two processes

A

Transcription

Translation

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9
Q

The process by which RNA is synthesized from a DNA template

A

Transcription

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10
Q

The result of transcription is the formation of:

A

messenger RNA (mRNA)

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11
Q

How does RNA differ from DNA?

A

RNA uses uracil (U) as a base amino acid rather than thiamine (T)

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12
Q

Transcription continues until a DNA sequence called _______ ________ is reached

A

Termination sequence

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13
Q

The process by which RNA directs the synthesis of a polypeptide

A

Translation

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14
Q

Translation utilizes this which is a clover shaped strand it about 80 nucleotides

A

Transfer RNA (tRNA)

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15
Q

Human cells can be categorized into two types:

A

Germline (sperm and egg, or gametes)

Somatic cells (including all other cells)

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16
Q

Gametes are ________ cells, so only 1 member of each chromosome pair

A

Haploid

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17
Q

The process by which these haploid cells are formed from diploid cells is called

A

Meiosis

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18
Q

The most well known form of aneuploidy is

A

Trisomy 21

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19
Q

Broken chromosomes and loss of DNA cause

A

Deletions

20
Q

The occurrence of two breaks in a chromosome, followed by the reinsertion its missing fragment at its original site, but in inverted order

A

Inversion

21
Q

The interchange of genetic material between nonhomologous chromosomes

A

Translocation

22
Q

Each gene occupies a position along a chromosome known as a

A

Locus

23
Q

Genes at a particular locus can take different forms, known as

A

Alleles

24
Q

When two alleles are identical, the individual is __________. When the alleles are different, they are _____________.

A

Homozygous

Heterozygous

25
Q

The composition of genes at a given locus is known as

A

Genotype

26
Q

The outward appearance of an individual

A

Phenotype

27
Q

The ___________ of a trait is the percentage of individuals with a specific genotype who also exhibit the expected phenotype

A

Penetrance

28
Q

The most common lethal recessive disease in white children

A

CF

29
Q

___________ refers to the mating of two related individuals and their offspring are said to be _________

A

Consanguinity

Inbred

30
Q

A trait that occurs much more often in one sex than the other

A

Sex-Influenced trait

31
Q

Different version of a paired gene

A

Allele

32
Q

Substance that alters genetic material

A

Mutagen

33
Q

Chromosome that is not a sex chromosome

A

Autosome

34
Q

Segment of DNA that is the basic unit of inheritance

A

Gene

35
Q

Sequence it three nitrogenous bases that specifies a particular amino acid

A

Codon

36
Q

No coding segment spliced out of mRNA

A

Intron

37
Q

Alteration of DNA capable of being passed off to offspring

A

Mutation

38
Q

Segment of mRNA that codes for proteins

A

Exon

39
Q

Strand of condensed chromatin visible right before cell division

A

Chromosome

40
Q

A display of chromosomes ordered according to length and centeomere location is called

A

Karyotyoe

41
Q

A somatic cell has how many pairs of chromosomes

A

23

42
Q

A _________ mutation of DNA involves addition or deletion of a number of base pairs that is not a multiple of three and thus alters all the codons downstream from the site of insertion or deletion

A

Frameshift

43
Q

A ______ gene will only be displayed if two copies are present

A

Recessive

44
Q

Person who has Down syndrome has a high risk of developing _________ disease because of involvement with chromosome 21

A

Alzheimer’s

45
Q

Person with the 47,XXY karyotyoe have ______ syndrome

A

Klinefelters

46
Q

X-linked recessive diseases are seen much more often in ——- rather than _______

A

Males more than females

47
Q

An error during mitosis or meiosis where homologous chromosomes fail to separate normally

A

Nondisjunction

Pathophysiology Test 1 (7 decks)

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