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Pathophysiology Test #1 Genetics Lecture
Genetics Lecture (5/25/11)
51
Pathology
Graduate
06/01/2011

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Term
Genetic Counseling 
Definition

-Educate but not advise

-Promote support groups

Term
Consanguinitity
Definition

incest

could indicate certain chance for certain diseases

Term
Centromer
Definition

noncoding region

brings two parts together

Term
Locus
Definition
physical position/location on chromosome
Term
Components of DNA
Definition

Phospahte molecule

Pentose Sugar

Nitrogen bases

Nucleotides

Double helix

Term
Chromosome
Definition

Organized structure of DNA and protiens

 

Term
Centromere
Definition

-middle of the chromosome

-where sister chromatids come together

Term
Allele
Definition
one of 2 or more forms of a gene
Term
Telomere
Definition
non coding region
Term
Locus
Definition
physical position/location on the chromosome
Term
Polymorphism
Definition

-difference in people that has no repurcussions

-ex. hair color, eye color

Term
Mutation
Definition
changes that have repurcussions
Term
transcription
Definition

-Process of DNA becoming mRNA

-aka the unwinding of DNA

Term
Translation
Definition
mRNA and tRNA bring in the matching amino acids making the new strand of DNA
Term
Mitosis
Definition
separation of chromosome in cell into two identical sets of nuclei
Term
Meosis
Definition

-Cell division ending in sperm and eggs

-The end products are half the size which allows for the combination of both parents genes

Term
Nondisjunction
Definition

-Occurs when chromosomes don't divide when they are suppose to

-Occurs in "big" chromosomes like 1,2,3,4,5,6

-Usually ends in a miscarriage

-Ex. Downs syndrome, Turners syndrome, Mosiac

Term
Translocations
Definition

-Recombinations

-2 homologous chromosomes come together 

-Doesn't affect a person directly but it would affect their children

Term
Types of translocations
Definition

Deletion

Inversion

Duplication

Insertion

Term

Deletion

 

Definition

One less nitrogen base

ex. DiGeorge Syndrome

Term
Inversion
Definition
A flipped code
Term
Duplication
Definition

extra nitrogen base

15q duplication 

Term
Insertion
Definition
Addition of nitrogen base from another chromsome
Term
Epigenetics
Definition

Study of inheritable changes in phenotype

-code is not actually affected

ex. Methylation, Acetlylation, Imprinting

Term
Methlylation
Definition

-CH3 attaches to chromosome and will silence the gene so that it will not be expressed

-Ex. Prader Willies Syndrome Angelman syndrom

Term
Imprinting
Definition

Some chromosomes are imprinted with which parent they received it from 

-If you have 2 genes from the same parent it can cause problems

Term
Types of Genetic Testing
Definition

1.Diagnosis

2. Predictive Testing

3. Carrier Testing

4. Prenatal Testing

5. Screening

6. Preimplantation

Term
Benefits to Genetic Testing
Definition

1. Clarify a diagnosis

2. Screening and reduction options

3. Figure out who else may be at risk

4. Reproductive decision making

Term
Issues with genetic testing
Definition

1. Cost

2. Insurance coverage

3. Testing minors

4. Psychological readiness

Term
Karotype
Definition

Picture of chromosomes

-The only ones that will appear different are sex chromsomes

Term
Nonsense Mutations
Definition
A codon changes to a stop codon
Term
Missense Mutation
Definition
Codon changes, coding for a different amino acid
Term
Silent Mutation
Definition
One base changes but it still codes for the same amino acid
Term
Frameshift Mutation
Definition
one or more bases is taken out/added changing the amino acid it codes for
Term
germine
Definition

inherited

single gene diseases

Term
de novo
Definition

new mutation

singe gene with no family history

Term
somatic
Definition

acquired

ex cancerous cells, mosaic 

Term
Autosomal Genes
Definition
can affect both males and females
Term
Autosomal dominent
Definition

never skips a generation

only 1 chromosome needed to express

50% chance of passing it on to offspring

Term
Autosomal recessive
Definition

-dependent on partners status

-common with incest

-carrier usually doesn't know it till an offspring expresses

-need 2 chromosomes to express

Term
X-linked genes
Definition

-No male to male transmission but there is male to female

-Males are affected more than females

-ex. hemophilia

Term
phenotypic heterogenicity
Definition
same gene causes different conditions
Term
gene heterogenicity
Definition
same condition caused by many genes
Term
geneotype
Definition

what they have

code affected

Term
Phenotype
Definition
what you see/what's expressed
Term
Multifactorial Inheritance
Definition
variations in traits caused by genetic and environmental/lifestyle factors
Term
Penetrance
Definition

Percentage of individuals with a specific genotype who also expresses the expected phenotype

-Ex. Huntington's disease has 100% penetrance

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