1. when its genetic codes are being expressed, DNA is in a threadlike form called
  2. DNA is arranged to form a larger structure called
  3. a person with a genotype expressed as AA is said to be
    homozygous dominant
  4. both males and females need at least one normal
    X chromosome
  5. entire collection of genetic material in each tyupical cell of the human body
  6. mutations are caused
    • -spontaneously
    • -by mutagens
    • -by environmental agents that damage DNA
  7. Red-green color blindness is an example of an X-linked recessive condition. if X is normal, X1 is recessive, and Y is normal, an individual with the genotype XX1 will be
    a normal female and a carrier
  8. trisomy and monosomy result from
    an error in meiosis called nondisjunction
  9. trisomy 21
    down syndrome
  10. person with the sex chromosomes XXY is afflicted with
    Klinefelter syndrome
  11. recessive X-linked genetic diseases
    • -hemophilia
    • -red-green color blindness
    • -cleft palate
  12. disorders that involve trisomy or monosomy can be detected after a ___ is produced
  13. the genes that cause albinism are
  14. during meiosis, matching pairs of chromosomes line up and exchange genes from their location to the same location on the other side; process called
  15. when a sperm cell unites with an ovum, a __is formed
  16. DNA molecules can also be called
    • -a chromatin strand
    • -a chromosome
  17. sex-linked traits
    are nonsexual traits carried on sex chromosomes
  18. if a person has only X chromosomes, that person is
  19. a karyotype
    can detect trisomy
  20. Osteogenesis imperfecta
    group of connective tissue disorders is characterized by imperfect skeletal development that produces brittle bones
  21. multiple neurofibromatosis
    disorder is characterized by multiple, sometimes disfiguring benign tumors of the Schwann cells (neuroglia) that surround nerve fibers
  22. Hypercholesterolemia (familial)
    High blood cholesterol may lead to athersclerosis and other cardiovascular problems
  23. Huntington disease (HD)
    Degenerative brain disorder is characterized by chorea (purposeless movements) progressing to severe dementia and death generally by age 55 yrs
  24. Polycystic kidney disease, autosomal dominant form (ADPKD)
    polycystic kidney disease or PKD (both dominant and recessive forms) is the most common single-gene disorder; clusters of fluid-filled sacs occur in kidneys and other organs causing kidney failure, hypertension, liver problems, and heart valve problems
  25. sickle cell anemia
    Blood disorder in which abnormal hemoglobin causes red blood cells to deform into a sickle shape; sickle cell anemia is the severe form, and sickle cell trait the milder form
  26. Thalassemia
    Group of inherited hemoglobin disorders is characterized by production in hypchromic, abnormal RBCs
  27. Cystic Fibrosis (CF)
    condition is characterized by excessive secretion of thick mucus and concentrated sweat, often causing obstruction of gastrointestinal or respiratory ducts
  28. Tay-Sachs disease (TSD)
    Fatal condition in which abnormal lipids accumulate in the brain and cause tissue damage leading to death by age 4 yrs
  29. Phenylketonuria (PKU)
    Excess of phenylketones in the urine is caused by accumulatino of phenylalanine in the tissues; it may cause brain injury and death if phenylalanine (amino acid) intake is not restricted
  30. albinism (total)
    lack of the dark brown pigment melanin in the skin and eyes results in vision problems and susceptibility to sunburn and skin cancer
  31. severe combined immune deficiency (SCID)
    failiuure of the lymphocytes to develop properly causes failure to the immune system's defense of the body; it is usually caused by adenosine deaminase (ADA) deficiency
  32. Hemophilia
    Group of blood clotting disorders is caused by failure to form clotting factors
  33. Duchenne muscular dystrophy (DMD)
    muscle disorder is characterized by progressive atrophy of skeletal muscle without nerve involvement
  34. red-green color blindness
    inability to distinguish red and green light results from a deficiency of photopigments in the cone cells of the retina
  35. Fragile X syndrome
    Mental retardation results from breakage of X chromosome in males
  36. Parkinson disease
    Nervous disorder is characterized by involuntary trembling and muscle rigidity
Card Set
genetics and heredity