Shared Flashcard Set

Details

Genectics
test 1
39
Pathology
Undergraduate 1
01/23/2013

Additional Pathology Flashcards

 


 

Cards

Term
DNA contains..
Definition
the instructions for making proteins and cell reproducton.
Term
Nucleotides
Definition

 molecules that form the building blocks of (DNA and RNA

-carry packets of energy and participate in cell signaling 

Term
What are the components of DNA?
Definition

-Helix

-Connectors

-nucleotides

Term
Helix contains..
Definition

*Phosphoric Acid

*Deoxyribose

Term
Connectors are..
Definition

*Nitrogenous bases, which means they have

-Adenine

-Thymine

-Guanine

-Cytosine

(A hooks up with T)

(G hooks up with C)

Term
Genes
Definition
These are sections of DNA that contain the instructions for making a "specific" protein
Term
How do Genes work?
Definition

-a set of 3 nitrogenous bases  on the DNA code for a specific amino acid (Codon)

-these amino acids are strung together in orderto make the protein

-the recipe is transcribed in the nucleus & brought out in the ER for production

Term

Transcription

(explain how this works)

Definition

*DNA NEVER leaves the nucleus

*A messenger RNA copy of the gene is sent out to the cytoplasm.

RNA polymerase -->(attaches to) --> DNA

~Transcription takes place~

messanger RNA(a copy of the DNA) is sent out

 

 

 

Term
Messenenger RNA is what?
Definition
a copy of the DNA
Term
There are so many different mRNA's that can be formed to code for different versions of proteins. some examples...
Definition

-removing some parts = Introns

-keeping some parts = Exons

-adding somes bases

-cutting the mRNA abd splicing it back together

Term
Translation
Definition

happens in:

The cytoplasm

-mRNA acts as a pattern telling the cell how to line up amino acids to form a protein

-amino acids are carried into position by transfer RNA molecules.

-Ribosomes made of Ribosomal RNA fasten the amino acids together make a protein.

Term
Transfer RNA..
Definition

-carries the amino acid

-lines up by matching it's anticodon to the mRNA's codon

Term
Ribosomal RNA
Definition

*moves along the mRNA

*moving transfers RNA's into position

(kinda like a conductor)

*it connects amino acids that mRNA's have carried into position

Term
Chromosomes
Definition

-linear thread of DNA

-visible during cell divison

23 pairs, 1 sex pair

-cells reproduce by duplicating the chromosomes and dividing into two

 

Term
Why do chromosomes unravel?
Definition
to allow use of specific areas of the gene code
Term
Mitosis
Definition
cell cycle replication
Term
In Mitosis you have..
Definition
Cell replacement and it results in = 2 daughter cells just like the mother cell.
Term
Meiosis
Definition
the formation of gametes by germ cells
Term
In Meiosis what happens?
Definition

*chromosomes duplicate

*one pair goes to each daughter cell on the 1st division

-then-

*one chromosome of each pair goes to the daughter cell in the 2nd division

**You now have a gamete that has only one copy of each chromosome and it is Unique!**

Broader gene pool!

 

Term
What is meant by the term "Crossing over"
Definition

-this is when chromosome pairs line up during meiosis and they can exchange ends

(kids lining up, exchanging gloves)

-Each of the 4 resulting gametes will have a different combination of genes.

Term
how do we inherit our genes?
Definition

-One set from Mom

-One set from Dad

Term

Genotype vs Phenotype

explain the difference

Definition

Genotype = a person's genetic material

Phenotype = a person's physical characteristics (what you look like)

Term

Genotype = a person's genetic material

Phenotype = a person's physical characteristics (what you look like)

 

Definition
Term
Expressivity-manner
Definition

this is how the gene is expressed in phenotype

(mild to severe)

Term
Penetrance-ability
Definition
this is the ability of the gene to express its function (the way your genotype is expressed in a population)
Term
Alleles
Definition

-one of all possible forms of the gene

-alternate forms of the gene

Term
If your alleles are alike they are called...
Definition
Homozygous
Term
If your alleles are different they are called...
Definition
Heterozygous
Term
If you are Heterozygous for a recessive trait and you do not show it, you are....
Definition
A Carrier!
Term
If you only have ONE allele you are...
Definition
Hemizygous
Term
Dominant vs Recessive
Definition

Dominant traits = are expressed in the phenotype

 

Recessive traits = are not expressed but may be passed on

Term
Single-Gene Autosomal Dominant
Definition

 one of several ways that a trait or disorder can be passed down through families.

If a disease is autosomal dominant, it means you only need to get the abnormal gene from one parent in order for you to inherit the disease, you have a 50% chance

Term

Examples of Autosomal

Dominant Disorders

Definition

Marfan =

-long arm of chromosome 15

-connective tissue disorder

-affects skeleton, cardiac & eyes

--aortic aneurysm & valve problems

Term
Autosomal Dominant Disorders
Definition

Neurofibromatosis

*neurogenic tumors from Schwann cells

*defect in tumor supressing

*dark pigment of skin & eyes

*disfiguring tumors

Term
Single Gene Autosomal Recessive
Definition

 is the result of a single mutated gene.

this person doesnt have it/show it but can pass it on

Term
Autosomal Recessive Disorders
Definition

*Phenylketonuria (PKU) = lack of enzyme that converst phenylalanine to tyrosine

(mental retardation, microcephaly, impaired neurological development)

-Most are mandatory screened for this.

Tays-Sachs  = lysosomal storage disease

-weakness, muscle flaccidity,seizures,blindness and death by age 4

-common in  eastern european jews

Term
Sex-linked Disorders
Definition

always a carrier on the X chromosome

*if mom carries it she doesnt pass it on to her daughter but will to her son*

Term
Sex-linked Disorders
Definition

*Fragile X

-mental retardation

-facial abnormalities

-hyper extensibe joints

*Hemophilia

-bleeding disorders

 

Term
Chromosomal Disorders
Definition

*Dupication = Mosaicism-accidental duplication or combination of a chromosome

*Number

-Down Syndrome (Trisomy 21)

-Turner Syndrome (Monosomy X)

-Klinefelter (Polysomy X)

Supporting users have an ad free experience!