Biology Ch. 14: The Human Genome

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Bioloto analyze chromosomes, cell biologists photograph cells in -, when the chromosomes are ully condensed and easy to see

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mitosis

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biologists then cut out the chromosomes from the photographs and group them together in pairs. This picture is known as a

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karyotype

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Humans have - chromosomes

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46

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Two of those -* chromosomes are known as - chromosomes bc they determine gender

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sex chromosomes

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Females have two copies of a large - chromosome

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X

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Males have one - and one small - chromosome

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x, small y

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to distinguish them from the sex chromosomes the remaining 44 chromosomes are known as - chromosomes, or -

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autosomal chromosomes, autosomes

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-- shows how an interesting human trait, a white lock of hair just above the forehead, is transmitted through 3 generations of a family.

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pedigree

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if you have a -allele for a genetic disorder, it will be expressed

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dominant

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achondroplasia is caused by - - alleles

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autosomal dominant

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a common genetic disease. children w/ it have serious disestive problems and produce a thick, heavy mucus that clogs their lungs and breathing passageways.

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cystic fibrosis

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- - disease is a common genetic disorder found in african americans. characterized by the bent and twisted shape of the red blood cells. more rigid than normal cells and tend to get stuck in the capillaries, so blood stops moving

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sickle cell disease

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there is a speical pattern of inheritance for genes located on the X chromosome or the Y chromosome because these chromosomes determine sex, genes located on them are said to be

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sex-linked genes

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3 human genes associated with color vision are located on the - chromosome

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X

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sex-linked disorder where the protein necessary for normal blood clotting is missing.

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hemophilia

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sex-linked disorder where the protein necessary for normal blood clotting is missing.

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hemophilia

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results in the progressive weakening and loss of skeletal muscle

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duchenne muscular dystrophy

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when homologous chromosomes fail to seperate

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nondisjunction

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in females, nondisunction can lead to = sndrome, where a woman inherits only one X chromosome and are sterile

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turners

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in males, nondisjunction causes - syndrome. the he cannot reproduce

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klinefelter's

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analyzes sections of DNA that have little or no known function but vary widely from one individual to another

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DNA fingerprinting

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an ongoing effort to analyze the human DNA sequence

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the hman genome project

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an avsent or faulty gene is replaced by a normal, working gene

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gene therapy