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34 Cards in this Set

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what are histones?
Proteins that help to control the structure of DNA strands
what is a codon?
series of 3 bases found in mRNA
describe RNA
single stranded, contains the sugar ribose, and the base uracil
describe tRNA
smallest of RNAs, 20 different types, have sites for amino acids and mRNA codons
how many amino acids does each
polypeptide contain?
100-300
errors in DNA specifically in the bases portion of the nucleotide
mutations
give an example of a poly-morphism that cannot be trasmitted to offspring
having one brown eye and one blue eye
Barr bodies
an inactive X chromosome present in females and does not control genetic traits
Results in two identical cells
mitosis
includes pairing of homologous chromosomes
meiosis
when does crossing over take place?
during meiosis I
The most common category of single gene disorder
Autosomal dominant
Autosomal Dominant disorders
Marfan's syndrome
Neurofibromatosis
Osteogenesis imperfecta
Von Willebrand's
Marfan's syndrome
C.T. disorder-tall,eye lenses dislocate, contortionism, aortic aneurysms
Neurofibromatosis
skin disease
osteogenesis imperfecta
tendency to break bones
Von Willebrand's
Bleeding disorder, problem clotting
Chromosomal disorders
Down syndrome
Turner's syndrome
Neurofibromatosis
lesions arise from peripheral nerves and also presents with cafe au lait spots
autosomal recessive disorders
Cystic fibrosis
PKU
Sickle cell
Tay Sachs
PKU
leads to mental retardation
Tay Sachs
Hx A deficiency, leads to mental & physical deterioration
why should pregnant women have folic acid?
folic acid plays a large role in cell growth and development, as well as tissue formation
X-linked disorders
Hemophilia A & B
Fragile X syndrome
Duchenne dystrophy
Duchenne dystrophy
presents with muscle weakness, lordosis, a waddling gait and Gower's sign
what is aneuploidy?
an abnormal chromosome number in cells
cause of Down Syndrome
nondisjunction
Children with down syndrome tend to have this
mental retardation
smaller heads
larger tongues
> risk of leukemia
> risk of alzheimer's
3 procedures used to determine Down syndrome in a fetus
amniocentesis
chorionic villi sampling
percutaneous umbilical blood sampling
Chromosomal disorder in which the female only has one X chromosome, with short stature
Turner's syndrome
a genetic disorder in which males have an extra X chromosome (47,XXY)
Klinefelter's syndrome
what are teratogens
cancer-causing agents
what is phocomelia and which teratogen causes it?
caused by thalidomide
phocomelia-extremities don't develop normally
FDA class of drugs that are known teratogens and harm the fetus
class X