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28 Cards in this Set
- Front
- Back
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genome
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the full set of genetic information that an organism carries in its DNA
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karyotype
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shows the complete diploid set of chromosomes grouped together in paire arranged in order of decreasing size.
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how many genes are found on the X chromosome? the Y?
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more than 1200 on the X, about 140 on the Y
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MCIR gene?
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determines skin and hair color
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Rhesus (Rh)?
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has to do with blood type (+) is dominant and (-) is recessive
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types of gene expression
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dominant/recessive. codominant/multiple alleles.
incomplete dominance. sex-linked |
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pedigree
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chart that shows relationships in a particular family
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sickle cell disease
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caused by a defective allele for beta-globin, one of two polypeptides in hemoglobin
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cystic fibrosis (CF)
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caused by the deletion of three bases in the gene for protein CFTR that cause proteins to fold improperly. the disorder is recessive. results in serious digestive problems and thick mucus that clogs airways
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huntington's disease
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allele for this disease is a long string of bases that repeat CAG (glutamine) over and over again. results in mental deterioration, uncontrollable movements. disappears after the codon repeats more
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what are the benefits of CF and sickle cell to certain groups of people?
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sickle cell protects against malaria so it is helpful to those in africa and CF blocks bacteria causing typhiod fever in parts of europe with bad sanitation
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nondisjunction
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in meiosis when chromosomes fail to seperate. contributing to too much or too less information in gamete cells
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trisomy
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meaning "three bodies" three copies of a chromosome in a cell. most common is 3 copies of chromosome 21 resultind in down syndrome
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nondisjunction of the X chromosome
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leads to turner's syndrome. female only inherits one X chromosome. these women cannot reproduce
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nondisjunction in male sex chromosomes
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causes Klinefelter's syndrome. (XXY) cannot reproduce
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how do scientists read the base sequences from any cell?
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by using natural enzymes that cut, seperate, and replicate DNA sequences
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restriction enzymes
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highly specific substances that cut even the largest DNA molecules into precise pieces called restriction fragments
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gel electrophoresis
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way to seperate and analyze differently sized restriction fragments. DNA fragments are placed at one end of porous gel and after negative electrical voltage is applied they move to the opposite end of the cell.
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how can scientists read DNA?
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putting fragments into a test tube with polymerase and loose base pairs that are dyed for identification. these died pieces stop the replication so that specific segments can be studied further
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Human Genome Project
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13 year international effort with the main goals of sequencing all 3 billion base pairs of human DNA and identifying genes. sequencing the genomes of model organisms to interpret human DNA, developing technology to support the research, exploring gene functions, studying human variation, and training future scientists.
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shot gun sequencing
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rapid sequencing method involving cutting DNA into random and determining the base sequence in each fragment.
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open reading frame
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is a sequence of DNA bases that will produce an mRNA sequence
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SNPs
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single bases differences between individuals
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haplotypes
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short for hapoid genotypes
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International HapMap Project
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give scientists a rapid way to identify haplotypes associated with various diseases and conditions in order to improve medicine
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bioinformatics
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informatics- creation, development, and operation of databases putting together tools to collect, organize, and interpret data in biology
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genomics
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the study of whole genomes including genes and their functions
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what did we learn from the human genome project?
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2% of genomes encodes instructions for synthesis of proteins
1/2 of our genome is made up of viruses more than 40% of proteins coded for by DNA have similarities with all organisms led to medical discoveries |
