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Genetic Disorders & Karyotypes. Review for field trip. Traits. Most of your traits or characteristics are “polygenic” - means several genes are involved Ex. skin color, hair color, height, eye color. Environment.

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genetic disorders karyotypes
Genetic Disorders & Karyotypes
  • Review for field trip
traits
Traits
  • Most of your traits or characteristics are “polygenic” - means several genes are involved
  • Ex. skin color, hair color, height, eye color
environment
Environment
  • Environmental factors CAN influence your traits (better nutrition, disease) but traits are determined by genes.
alleles
Alleles
  • Single allele - 2 or more alternate forms of 1 gene
  • Ex. RR, Rr, or rr - each is an allele for flower color
  • Multiple alleles - 3 or more alternate forms
  • Ex. Blood type - A, B, AB, or O = allele possibilities
chromosomes genes
Chromosomes/Genes
  • Homologous pairs - 1 from mom, 1 from dad
  • Have similar alleles on each; slightly different molecular forms
  • Bands = gene location for a particular allele
genetic disorders
Genetic Disorders
  • Occur based on problems originating on a gene
  • Over 200 types
genetic screening
Genetic screening
  • Can be done if you have a history of genetic disorders in your family
  • Uses: karyotypes, blood tests for proteins, DNA testing
karyotypes
Karyotypes
  • Shows unduplicated chromosomes - 1 from mom, 1 from dad
  • Can “easily” see problems
trisomy 21
Trisomy 21
  • Has 2 chromosomes located at position #21
  • Down syndrome
trisomy 18
Trisomy 18
  • Rick Santorum’s child
  • 3 chromosomes at #18 position
marfan syndrome
Marfan syndrome
  • Extremely long arms, legs and torso; spider like fingers
  • Disorder of connective tissue
angelman syndrome
Angelman syndrome
  • Similar to autism or cerebral palsy
  • Lack of speech, seizures, balance disorder, need life long care
  • General “angel” like personality - happy, outgoing, smiling
other screening types
Other screening types
  • Amniocentesis - at 14th to 16th week of pregnancy
  • Common: women 35+
  • Needle in belly button to withdraw amniotic fluid to examine chromosomes and proteins
other screenings
Other screenings
  • Chorionic villi sampling (CVS) - takes cells from developing fetus (zygote) at 8-10th weeks.
table 12 1 pg 246
Table 12-1 pg. 246
  • Some common genetic disorders
  • Will be doing a project on a disorder soon
treatment
Treatment
  • Genetic counselor - works with parents to determine probability of genetic disorder in their offspring
  • Pedigree = family tree
treatment1
Treatment
  • Can sometimes alter diet if an enzyme is missing
  • Cystic fibrosis - pounding on back to loosen mucuous; ventilator
  • Hemophilia - drugs for blood clotting
  • Surgery in utero
gene therapy
Gene therapy
  • Placing healthy copy of gene into cells of person who has defective gene.
  • Have to know sequence of genes (bases) that are defective.
gene therapy1
Gene therapy
  • 1. Healthy gene inserted into the DNA of a virus
  • 2. Virus inserted into lungs of patient
  • 3. Virus infects cells
  • 4. Healthy gene is now in cells; can make proteins that were missing
  • Is temporary - have to repeat