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The family tree of genetics I II III A pedigree is a chart of the genetic history of family over several generations. Scientists or a genetic counselor would find out about your family history and make this chart to analyze. Female Male Examples of connected symbols: Married Couple Siblings What does a pedigree chart look like? Affected Carrier Deceased or Determine if the pedigree chart shows an autosomal or X-linked disease. 1. If most of the males in the pedigree are affected the disorder is X-linked If it is a 50/50 ratio between men and women the disorder is autosomal. Is it Autosomal or X-linked? Autosomal 2. Determine whether the disorder is dominant or recessive. If the disorder is dominant, one of the parents must have the disorder. If the disorder is recessive, neither parent has to have the disorder because they can be heterozygous. Dominant or Recessive? Dominant Dominant or Recessive? Recessive A karyotype is an ordered display of an individual’s chromosome. Scientist take a picture of the chromosomes during metaphase. Each chromosome is paired with its homologue. Is used to detect abnormalities. Different # for Homologous different species Chromosomes Full set = 2N=Diploid are the sets of N= Haploid pair each # pairs 1 pair from mother 1 pair from father Humans= 23 pairs or 46 total Autosomes = # 122 for all traits except sex Sex chromosomes= Pair # 23 XX(female) or XY(male) Nondisjunction is the failure of chromosomes to separate correctly (in meiosis I) Nondisjunction causes: 1. A gamete with an extra chromosome (n+1) Trisomy 2. A gamete missing a chromosome (n-1) Monosomy More than one type of allele for a trait Example: Blood Type TYPES: A B AB O IAIA, IAi B B B I I ,I i IAIB ii Cystic Fibrosis Caused by a recessive allele Missing protein causes mucus build up in places like the lungs Most common among Caucasians Sickle Cell Anemia Caused by a co-dominant allele Altered protein changes the shape of red blood cells Most common among African Americans Heterozygous condition is resistant to malaria Tay-Sachs Caused by a recessive allele Missing enzyme causes lipid build up in the brain (death by age 4) Most common among eastern European Jewish population Huntington’s Disease Caused by a dominant allele Late-onset of symptoms (age 40) result in the deterioration of nervous system Phenylketonuria (PKU) Caused by a recessive allele Missing enzyme prevents the break down of phenylalanine (can cause brain damage) If caught early, an altered diet can prevent the damage Down Syndrome Trisomy 21(3 copies of chrom. 21) Most common serious birth defect in the US Syndrome includes characteristic facial features, short stature, heart defects, and intellectual disabilities Kleinfelter’s Syndrome XXY Have abnormally small testes; are sterile; some feminine secondary sex characteristics; normal intelligence Extra Y XYY No obvious differences, usually tall Metafemales XXX Limited fertility, possible intellectual disability Turner Syndrome XO Is the only viable monosomy Short stature; fail to develop secondary sex characteristics; internal sex organs do not mature making the sterile Restriction enzymes – enzymes used to cut DNA at certain point Recombinant DNA – DNA that has been recombined from different sources Environmental impact – traits are determined by genes and the influence of the environment