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Chapter 14 "The Human Genome"

Check your knowledge of human genetic disorders and traits

AB
karyotypepicture of chromosomes arranged in pairs by size and shape
sex chromosomeschromosomes that determine an individual's sex
autosomeschromosomes that don not determine the sex of an individual
XYsex chromosome pair found in human males
XXsex chromosome pair found in human females
pedigree chartchart that shows genetic relationships within a family
polygenictraits determined by many genes
albinismlack of pigment in skin, hair, and eyes caused by recessive gene
cystic fibrosisexcess mucus in lungs caused by recessive gene
phenylketonuria (PKU)inability to metabolize phehylalanine results in mental retardation
Tay-Sachs diseaselipid accumulation in brain children die before age of 5
achondroplasiadwarfism caused by dominant gene
Huntington's diseasemental deterioration and uncontrollable movements begins in middle age
sickle cell diseaseabnormal hemoglobin causes RBC shape change
sickle cell trait carrierimmune to malaria
sex-linked genegene found on part of the X chromosome not found on Y chromosome
sex-linked traitstraits that appear more often in males than females because gene is only on X chromosome
colorblindnesssex-linked disorder cannt distinguish color red from the color green
hemophiliasex-linked trait missing protein needed for proper blood clotting
Duchenne muscular dystrophysex-linked trait causing progressive weakness of skeletal muscles
Barr bodyinactivated X chromosome found in females
nondisjunctionfailure of chromosome separation during meiosis
Turner's syndrome46 XO sterile female with incompletesex organs
Kleinfelter's syndrome47 XXY sterile male with small sex organs elongated limbs
Cri-du-Chatsevere mental retardation caused by missing a chromosome 5
monosomyinheriting only one member of a chromosome pair
trisomyinheriting three members of a chromosome pair
Down syndrometrisomy 21 results in mental retardation and physical problems
Jacob syndrome47 XYY males grow larger earlier than their peers was initially found more often in criminal population
DNA fingerprintingidentifying individuals by banding of DNA fragments in gel electrophoresis
Human Genome Projectresearch to sequence all human DNA
gene therapyusing recombinant DNA to replace a faulty gene with a normal working gene


Science Instructor
Scarsdale, NY

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