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52 Cards in this Set
- Front
- Back
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What is an example of germ line mutations?
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Hemophilia
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What is an example of a somatic cell mutation?
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Embryo mutation, corn hernal mutation
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What is an example of morphological mutation?
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Albinism
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What is an example of a lethal mutation?
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trisomy 4
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What is an example of a conditional mutation?
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Bacteria that are temperature sensitive
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A point mutation is a _______ mutation
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single point
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What results in the wrong amino acids being placed?
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Missense
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How can substitution occur?
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Deanimation, trasition, transversion
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What is cytosine deanimated to?
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Uracil
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What is 5 methyl cytosine deanimated to?
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thymine
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What is the mutation that changes a purine to purine or pyrimidine to pyrimidine?
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Transition
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What is the mutation that changes a purine to a pyrimidine?
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Transversions
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What are base analogues?
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look like bases but will not match or match incorrectly
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_________ is a cancer drug that switches thymine to uracil
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5-Bromouracil
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Flat planar ring molecules do what?
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Intercalate beween nucleotides
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What is a light repair enzyme for thymine dimers?
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DNA photolase
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What is Xeroderma Pigmentosum?
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No DNA repair, frequent tumors from UV
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WHat are the two prenatal testing techniques?
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Chronic villi sampling and amniocentesis
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What is chronic villi sampling?
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testing of chronic villi, can be done earlier than amniocentesis
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What is amniocentesis?
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Analysis of the amniotic fluid
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What is a condition that produces cri du chat?
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Deletion of the p arm on chromosome 5
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What is a disease that comes from inversion?
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Hunter's
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What is a disease that comes from translocations?
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cancer
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What is a disease that comes from duplication of a chromosome?
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Huntinton's
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What is aneuploidy?
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abnormal number of a particular chromosome
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WHat is the primary characteristic of Smith-Magenis?
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inversion of circadian rhythm, insensitivity to pain
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What are primary characterisitc of Cri du chat?
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cat like cry,impaired speech and language
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What are symptoms of Hunter's syndrome?
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incomplete digestion of mucopolysaccharides, atypical retinitis pigmentosa
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What are transposons?
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jumping genes
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What comes from transposons?
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Neurofibromatosis
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Who won nobel prize for transposon discovery?
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Barbara Mclintock
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Smith magenis results from
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deletion
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Who worked on Huntington's disease?
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Nancy Wexler
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What is allopolyploidy?
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Polyploidy that involves chromosomes from different species
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______ can't produce viable progeny at an appreciable rate
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triploids
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___% of pregnancies are troploid
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1
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_______ babies can also kill the mother
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triploid
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What is fused fingers?
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syndactyly
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What is a hydatidiform mole?
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all genes come from one parent
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What is an ovarian teratoma?
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attempt at parthogenesis
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What was downsyndrome called?
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mongolism
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What is trisomy 13?
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Patau syndrome
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What is trisomy 18?
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Edwards syndrome
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What is significant about edwards syndrome?
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Rocker bottom feet
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What is Klinefelters syndrome?
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XXY Male of XXXY
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What is clinodactyly?
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bent fingers
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What is a meta female?
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trisomy X
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WHat is Jacob's syndrome?
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XYY
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What is the SRY gene?
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Little portion of Y chromosome that dictates whether you are a man or not
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What is androgen insensitivity?
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lacks receptor glycoproteins for male hormones, XY will be phenotypically female
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What is a type of pseudohermaphroditism?
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5-alpha reductase deficiency (5-ARD)
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What happens in 5-ARD?
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Female turns male at puberty.
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