Pathophysiology Chapter 5 Study Guide

Front 1

Our genetic information is stored in the structure of ____ acid.

Back 1

Our genetic information is stored in the structure of deoxyribonucleic acid.

Front 2

___ acid serves as the template for protein synthesis.

Back 2

Ribonucleic acid serves as the template for protein synthesis.

Front 3

The complete set of proteins encoded by the genome is known as the ___.

Back 3

The complete set of proteins encoded by the genome is known as the proteome.

Front 4

A precise complementary paring of ___ and ____ bases occurs in the double-stranded DNA molecule.

Back 4

A precise complementary pairing or purine and pyrimidine bases occurs in the double-stranded DNA molecule.

Front 5

DNA replication is semiconservative, meaning the parental DNA strands dissociate and pair with ____ strands to complete mitosis.

Back 5

DNA replication is semiconservative, meaning the parental DNA strands dissociate and pair with complementary strands to complete mitosis.

Front 6

Human somatic cells contain ___ pairs of different chromosomes.

Back 6

Human somatic cells contain 23 pairs of different chromosomes.

Front 7

The genetic code is ____ repeat of bases.

Back 7

The genetic code is a triplet repeat of bases.

Front 8

Errors in DNA duplication are known as ____.

Back 8

Errors in DNA duplication are known as mutations.

Front 9

A ___ represents the variations of the genetic code that are responsible for the differences between individuals.

Back 9

A haplotype represents the variations of the genetic code that are responsible for the difference between individuals.

Front 10

Messenger RNA is formed in the process of ___.

Back 10

Messenger RNA is formed in the process of transcription.

Front 11

The coding sequence of an mRNA molecule is known as ___.

Back 11

The coding sequence of an mRNA molecule is known as exons.

Front 12

Molecular ___ assist in the folding of proteins into their three-dimensional conformation.

Back 12

Molecular chaperons assist in the folding of proteins into their three-dimensional conformation.

Front 13

The degree to which a gene or a particular group of genes is activated is termed gene ____.

Back 13

The degree to which a gene or a particular group of genes is activated is termed gene expression.

Front 14

DNA determines the type of biochemical product that is needed by the cell and directs its synthesis, but it is ___, through the process of transcription and translation that is responsible for the actual assembly of the products.

Back 14

DNA determines the type of biochemical product that is needed by the cell and directs its synthesis, but it is RNA, through the process of transcription and translation that is responsible for the actual assembly of the products.

Front 15

___ occurs in the cell nucleus and involves the synthesis of RNA from a DNA template.

Back 15

Transcription occurs in the cell nucleus and involves the synthesis of RNA from a DNA template.

Front 16

The pattern of gene expression and the outward presentation is the ____.

Back 16

the pattern of gene expression and the outward presentation is the phenotype.

Front 17

The position of a gene on a chromosome is called its ____, and alternate forms of a gene at the same locus are called ___.

Back 17

The position of a gene on a chromosome is called its locus and alternate forms of a gene at the same locus are called alleles.

Front 18

A ___ is a graphic method for portraying a family history of an inherited trait.

Back 18

A pedigree is a graphic method for portraying a family history of an inherited trait.

Front 19

tRNA

Back 19

used to align amino acids with ribosomes for the formation of protein

Front 20

Transcription factors

Back 20

initiate and regulate transcription

Front 21

penetrance

Back 21

ability of a gene to express its function

Front 22

mRNA

Back 22

template that is copied from DNA

Front 23

Mitosis

Back 23

duplication of somatic cells

Front 24

Meiosis

Back 24

replicating germ cells

Front 25

Expressivity

Back 25

manner in which the gene is expressed

Front 26

Chromosomes

Back 26

organized and condensed DNA

Front 27

Multifactorial inheritance

Back 27

multiple alleles at different loci affect the outcome

Front 28

Single gene inheritance

Back 28

one pair of genes is involved in the transmission of information

Front 29

Collaborative genes

Back 29

two different genes influencing the same trait interact to produce a phenotype neither gene alone could produce

Front 30

Multiple alleles

Back 30

more than one allele affects the same trait

Front 31

Complementary genes

Back 31

Each gene is mutually dependent on the other

Front 32

Epistasis

Back 32

one gene masks the phenotypic effects of another nonallelic gene.

Front 33

Alleles

Back 33

Alternate forms of a gene at the same locus

Front 34

The processing of genetic material involves many well-organized steps. Put the following in order, starting at transcription and ending with the three-dimensional protein

Back 34

Transcription --> mRNA moves to cytosol --> ribosomal subunits come together --> tRNA moves to ribosome --> translation begins --> mRNA is read by ribosome complex --> posttranslational processing ---> formation of peptide bonds --> final 3d protein structure

Front 35

Gregor Mendel was the first to study and characterize inheritance. Explain what he did and what he discovered.

Back 35

Mendel discovered the basic pattern of inheritance by conducting carefully planned experiments with garden peas. Experimenting with phenotypic traits in peas, Mendel proposed that inherited traits are transmitted from parents to offspring by means of independently inherited factors, now known as genes, and that these factors are transmitted as recessive and dominant traits from parents to their offspring.

Front 36

Genetic mapping is done to allow us to know the position of certain genes and sequences on the chromosomes. Explain the difference between genetic maps and physical maps. In your explanation, describe the basic methodology used to construct these maps.

Back 36

Genetic maps use linkage studies to estimate the distances between chromosomal landmarks. The are similar to a road map. Physical maps are similar to a surveyor's map. They make use of cytogenic and molecular techniques to determine the actual physical locations of genes on chromosomes.

Front 37

During meiosis, a process occurs that increases genetic variability. Explain how this occurs. Is it a good or bad thing?

Back 37

While in metaphase I, chromosomes are paired and condensed. Over time, an interchange of chromatid segments can occur. This process is called crossing over. Crossing over allows for new combinations of genes resulting in an increase in genetic variability. this is a very beneficial process.

Front 38

Humans have both somatic and sex chromosomes. How many of each do we have and where do they originate?

Back 38

There are 22 pairs of somatic chromosomes. Half of each pair is received from the female and the other half are from the male. We then have two sex chromosomes, an X from our mother and in the case of females, an X from the father, for a total of two Xs. Males only have one X chromosome from their mother and one Y chromosome from their father.

Front 39

Only about 2% of the genome encodes instructions for synthesis of proteins; the remainder consists of noncoding regions that serve to determine where, when, and in what quantity proteins are made. Explain how this occurs and describe its significance.

Back 39

Gene activator and repressor sites within DNA commonly monitor levels of the synthesized product and regulate gene transcription through a negative feedback mechanisms. Expression is also regulated at the transcription level by transcription factors that directly affect protein structure and function.

Front 40

Jessica Jones, an adopted child, has been searching for her parents for many years. She believes that she has finally found her father but wants to be 100% sure before she approaches him.

Back 40

Is there any way for her to absolutely identify her father before she meets him? Discuss the use of DNA fingerprinting to identify familial relationships.

Hint 40

DNA fingerprinting is a technique for comparing the nucleotide sequences of fragments of DNA from different sources. The fragments are obtained by treating the DNA with various enzymes that break DNA strands at specific sites.