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