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Chapter 2: Genes and Genetic Diseases
Understanding Pathophysiology 4th Edition
76
Physiology
Undergraduate 3
09/16/2011

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Cards

Term
Contains mechanisms of inheritence
Definition
Nucleus
Term

4 Nitrogenous Bases

 

____ pairs with ____

_____ pairs with ____

Definition

Adenine pairs with Thymine

 

Guanine pairs with Cytosine

Term
The two Purines are ____ and ____.
Definition
Adenine and Guanine
Term
The two Pyrimidines are ____ and ____.
Definition
Thymine and Cytosine
Term

A nucleotide consists of

1.________

2.________

3.________

Definition

Sugar

Phosphate

Nitrogeous Base

Term
Directs synthesis of PRO
Definition
DNA
Term
Proteins consist of sequences of _____ ______.
Definition
Amino Acids
Term
3 nitrogenous bases made up a ______
Definition
Codon
Term
Each codon specifies a single _____ _____.
Definition
Amino Acid
Term
All living organisms use the same DNA codes to specfiy proteins except ________.
Definition
Mitochondria
Term
Replication takes place in the ______.
Definition
Nucleus
Term
____ _________ travels along a single strand of DNA and proofreads the strand.
Definition
DNA Polymerase
Term

Accurate replication requires:

1._______

2._______

Definition

DNA Polymerase

Complementary Base Pairing

Term
An inherited alteration of  genetic material that is rare is termed a ______.
Definition
Mutation
Term
One base pair replaces another is which type of mutation?
Definition
Base pair substitution
Term
Insertion or deletion of one or more base pairs is which type of mutation?
Definition
Frameshift Mutation
Term

_________ increase frequency of mutations.

Examples: radiation, nitrogen mustard, vinyl chloride, formaldehyde.

Definition
Mutagens
Term
Having a mutation with no previous exposure to a mutagen is termed a ________ mutation.
Definition
Spontaneous
Term

Protein synthesis requires two processes. These two processes are:

1._______

2._______

 

Definition

Transcription

 

Translation

Term
3 things that make RNA different from DNA.
Definition

1. Different sugars

2. Uracil instead of Thymine

3. RNA usually occurs as a single strand.

Term
Transcription occurs in the _____ of the cell.
Definition
Nucleus
Term
Process of manufacturing RNA from a DNA template; forms mRNA.
Definition
Transcription
Term
The process by which RNA directs the synthesis of protein is called _____
Definition
Translation
Term
A DNA strand has the sequence TAGAGA. What is the complementary strand?
Definition
ATCTCT
Term
The enzyme most important for DNA replication is ____ _______.
Definition
DNA Polymerase
Term
Process by which RNA directs synthesis of protein.
Definition
Translation
Term
Translation occurs in the ______ of the cell.
Definition
Ribosome
Term
For protein synthesis (during Translation), complementary base pairing occurs between _____ and _____.
Definition
tRNA and mRNA
Term
After translation, the protein is released in the _________.
Definition
Cytoplasm
Term
What are the two types of human cells?
Definition
Somatic and Gametes
Term
A Gamete (Sperm or Egg cell) possesses _ _ chromosomes.
Definition
23
Term

Gametes are:

 

1.) Haploid

or

2.) Diploid

Definition
HAPLOID :)
Term
All cells other than gametes are termed _______ cells.
Definition
Somatic
Term
The nucleus of somatic cells contains _ _ chromosomes in _ _ pairs.
Definition

46

 

23

Term
Somatic cells are formed through mitosis and ___________.
Definition
Cytokinesis
Term
22 of the 23 chromosomal pairs are ______.
Definition
identical (autosomes)
Term

Females have _ _ chromosomes.

Males have _ _ chromosomes.

Definition

Females = XX

Males = XY

Term

Karyotypes are arranged from ______ to _________, with the _____ chromosomes placed last.

Definition

Largest to smallest

Sex chromosomes last.

Term
The leading cause of mental retardation and miscarriage.
Definition
Chromosomal Abnormalities
Term

______ cells have the normal number of chromosomes.

Examples: Gametes, Somatic cells

Definition
Euploid
Term

_________ is a Euploid cell with more than diploid number of chromosomes.

Examples: Liver, bronchial, epithelial tissues

Definition
Polyploidy
Term
A cell that does not contain a multiple of 23 chromosomes is an ________ cell.
Definition
Aneuploid
Term
Aneuploidy is typically caused by _________, an error in which homologous chromosomes or sister chromatids fail to separate normally during meiosis or mitosis.
Definition
nondisjunction
Term
Trisomies of ___, ____, and ___ chromosomes are often consistent with life.
Definition
13, 18, and 21
Term

Loss of chromosomal material is worse than duplication.

 

TRUE or FALSE

Definition
TRUE
Term

Aneuploidy of sex chromosomes is less serious than aneuploidy of autosomes.

 

TRUE or FALSE

Definition
TRUE
Term
There is little genetic material on the _ chromosome.
Definition
Y
Term
Best example of Aneuploidy is _______, also known as Trisomy 21.
Definition
Down Syndrome
Term
Is it increasing, maternal age or paternal age, that increases the risk of having a child with down syndrome?
Definition
Maternal Age (the age of the egg)
Term

Sex chromosome abnormalities are more common in:

MALES OR FEMALES

Definition
MALES
Term
Most common sexual chromosomal abnormality is ________.
Definition

Trisomy X

- no overt physical abnormalities

-Sterility

-Menstrual irregularity

-mental retardation

Term
This syndrome is characterized by the presence of a single X chromosome.
Definition

Turner Syndrome

- 45, X

Term
This syndrome is characterized by the presence of 2 X chromosomes and 1 Y chromosome.
Definition

Klinefelter Syndrome

- 47, XXY

Term

This syndrome is the result of deletion of part of chromosome #5.

- Characteristics include: cat cry, low birth weight, severe mental retardation, microcephaly, heart defects.

Definition
Cri du chat Syndrome.
Term
An ______ is 2 breaks on the chromosome.
Definition

Inversion

-May or may not have physical effects.

Term
The interchange of genetic material between nonhomologous chromosomes is termed a __________.
Definition

Translocation

-The carrier would be normal but the offspring can have duplications/deletions.

Term

A fragile site, located on the long arm of the X chromosome, is associated with what syndrome.

- More likely to affect males.

-2nd most common genetic cause of mental retardation.

Definition
Fragile X Syndrome
Term
_______ is the postion of the gene on the chromosome.
Definition
Locus
Term

The genes at a particular locus can take different forms (i.e. they can be composed of different nucleotide sequences) called ________.

Ch 2. Pg 46.

Definition
Alleles
Term
The composition of genes at a given locus is known as the _________.
Definition
Genotype
Term
The outward appearance of an individual, which is the result of both genotype and environment, is the _______.
Definition
Phenotype
Term
A carrier is genotypically ________, and phenotypically ________.
Definition

Abnormal

 

Normal

Term
A child is born with blue eyes (bb). The childs mother has blue eyes and the father has brown eyes. The father is _ _?
Definition

The father would be (Bb). 

        

Term
Transmission of Huntington Chorea is associated with ______.
Definition
Delayed onset of age.
Term
Percentage of individuals with genotype who also exhibit phenotype is known as _______.
Definition
Penetrance
Term
__________ is the extent of variation in phenotype associated with a particular genotype.
Definition
Expressivity
Term
The most common and severe of all X-linked recessive disorders is ________ _______ _______ (DMD)!
Definition
Duchenne Muscular Dystrophy
Term

Most common lethal recessive disease is _______ _______.

- The defective transport of chloride ions-salt imbalance

Definition
Cystic Fibrosis
Term
Cystic Fibrosis is caused by an _____ _______ gene.
Definition
autosomal recessive
Term
_ _ _ gene on Y chromosome initiates gonadal determination.
Definition
SRY
Term
During the first meiotic stage, the arms of homologous chromosome pairs intertwine and sometimes exchange portions of their DNA in a process known as _________.
Definition
Crossing over (Crossover)
Term
The process of forming new arrangements of alleles is called ____________.
Definition
Recombination
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