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Genome
The complete set of human genes
How amny pairs and individual chromosomes?
23 pairs
46 individual
Define Locus?
The location for a gene
DNA
Deoxyribonucleic acid
Genetic material required for cell division and growth
Name he 4 bases for DNA?
Adenine (A)
Guanine (G)
Cytosine (C)
Thymine (T)
Name the 2 bases that are Pyrimidines?
Cytosine (C)
Thymine (T)
Name the 2 bases that are Purines?
Adenine (A)
Guanine (G)
What the 4 bases in DNA become when 5 sided sugar is added to them?
Nucleoside
What a nucleoside becomes when a phosphate is attached to it?
Nucleotide
Name the base pairs?
Adenine and Thymine
Guanine and Cytosine
Define Mitosis?
cell division
Name the 4 phases of cell cycle?
Go
G1
S
Gm
M
Where is the centromere?
Pinched in area of chromosone
Where is the Chromatid?
Each left and right half of the chromosone
Where is the P arm?
The arms above the centromere
the short arms
Where is the q arm?
The lower arms below the centromere
The Teleomer is where?
The very tips of the chromosone
Describe what Karyotype?
an organized arrangement of all the chromosomes within one cell during the metaphase section of mitosis
Euploid?
The correct number of chromosome pairs for a species
Define Autosomes?
The 22 pair of chromosomes that do not code for sexual differences
Sex Chromosomes?
The 1 pair of chromosomes that code for sexual differences
What is a gene?
A specific segment of DNA that sontains the code for a specific protein
Allele?
A variation of a gene
Define Phenotype?
Any gene for a person that can be observed
Genotype?
What the actual alleles are for that trait
not just what can be seen
What is a Mutation?
DNA changes that are inherited
Where do mutations occur?
Somatic
Germline
Define point mutation?
The substitution of one base for another
Define Frameshift mutation?
When a whole base or group of bases are added or deleted
What is a Pedigree?
A family tree
Define Penetrance?
How often or well a gene is expressed when it is present
Define Expressivity?
The degree of expression a person has when a dominant gene is present
Autosomal Dominant Pattern of inheritance?
Appears in every generation
Risk for child is 50% during pregnancy
Found = in males and females
Unaffected people do not have affected children
Examples of AD?
Breast cancer
Huntingtons disease
DM2
Malignant hyperthermia
Autosomal recessive pattern of inheritance?
Both allele must be present to be expressed
Skip a generation
Found = in males and females
Children of 2 affteced parents will always be affected
Only in siblings not in parents
Examples of AR?
Albinism
Cystic fibrosis
Sickle cell anemia
Sex-linked recessive pattern of inheritance?
Trait much higher in males than female
Cannot be passed father to sons
Transmits from father to all daughters who will be carriers
Female carriers have a 50% risk of passing gene to their children
Examples of x-linked recessive?
Hemophilia
Red green color blindness
Examples of complex disorders?
AD
Bipolar
PD
Schizophrenia
Hypertension
RA
Define Carrier?
A person who has one mutated allele for a recessive genetic disorder
Author
blkbunny20
ID
51597
Card Set
dmrn105
Description
Medical surgical
Updated
2010-11-27T17:46:23Z
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