1 / 9

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

alexis
Télécharger la présentation

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

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related