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KEY CONCEPT A combination of methods is used to study human genetics.

KEY CONCEPT A combination of methods is used to study human genetics. Human disorders. Autosomal Recessive

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KEY CONCEPT A combination of methods is used to study human genetics.

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  1. KEY CONCEPT A combination of methods is used to study human genetics.

  2. Human disorders Autosomal Recessive 1. cystic fibrosis-recessive gene that makes a defective protein on the plasma membrane. Results in the formation and accumulation of mucus in the lungs and digestive tract. Occurs more often in Caucasians. 2. Tay-Sachs Disorder- gene that cannot make an enzyme needed to break down lipids. Effects the normal function of the central nervous system.-lethal-occurs more often among Ashkenazi Jewish population 3. PKU-phenylketonuria-lacks enzyme that converts phenylalanine to tryosine (amino acids) . This is toxic to the brain, but can be treated with a special diet.

  3. Autosomal Dominant Huntington’s Disorder-lethal, affects the nervous system, but symptoms usually do not occur until 30-50 years of age’ Sex-linked Hemophilia Color blindness Multiple Allele and Codominant Blood types Codominant Sickle Cell Anemia-more frequently among African and African American

  4. Human genetics follows the patterns seen in other organisms. • The basic principles of genetics are the same in all sexually reproducing organisms. • Inheritance of many humantraits is complex. • Single-gene traits areimportant in understandinghuman genetics.

  5. Y X Females can carry sex-linked genetic disorders. • Males (XY) express all of their sex linked genes. • Expression of the disorder depends on which parent carries the allele and the sex of the child.

  6. A pedigree is a chart for tracing genes in a family. • Phenotypes are used to infer genotypes on a pedigree. • Autosomal genes show different patterns on a pedigree than sex-linked genes.

  7. If the phenotype is more common in males, the gene is likely sex-linked.

  8. X Y Several methods help map human chromosomes. • A karyotype is a picture of all chromosomes in a cell.

  9. Karyotypes can show changes in chromosomes. • deletion of part of a chromosome or loss of a chromosome • large changes in chromosomes • extra chromosomes or duplication of part of a chromosome

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