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Johnny

Johnny. Johnny presents to the doctor with flu-like symptoms This is his 5 th visit in 3 months He has suffered from a variety of illnesses and doctors begin to suspect an immune deficiency Johnny is referred to a specialist. Genetic Testing.

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Johnny

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  1. Johnny • Johnny presents to the doctor with flu-like symptoms • This is his 5th visit in 3 months • He has suffered from a variety of illnesses and doctors begin to suspect an immune deficiency • Johnny is referred to a specialist

  2. Genetic Testing • A variety of genetic disorders can cause immune deficiency • Johnny’s DNA is sampled for analysis by the lab specialist • DNA sequencing is performed to look at Johnny’s genetic code for abnormalities

  3. Background - DNA • DNA sequences consist of a series of four nucleotides • A – Adenine • C – Cytosine • G – Guanine • T – Thymine • Example: TACGTACTGTAAATC

  4. Background - Transcription • A DNA sequence is transcribed into RNA which can exit the nucleus to produce protein • Complementary, antiparallel transcript is produced: • DNA: TACGTACTGTAAATC • RNA: AUGCAUGACAUUUAG • Uracil(U) replaces Thymine (T)

  5. Background - Translation • RNA is translated into protein • A series of three bases (codon) produces an amino acid • RNA: AUGCAUGACAUUUAG • Prot: MetHisAspIleStop • AUG translates toMethionine • CAU translates to Histidine • GAC translate to Aspartic Acid • AUU translates to Isoleucine • UAG is a Stop Codon

  6. Background - Variation • All humans have nearly identical DNA sequences • There is minor variation that accounts for differences • Certain sequences in the DNA code for important proteins • If an individual has a mutation in such a sequence, the important protein may not function properly for that person

  7. What does this have to do with Johnny? • The doctors suspect that Johnny may have a mutation in a gene that is important for immune response • Such a mutation would account for his frequent illnesses • There are databases of genetic sequences that are important for immune function • Johnny’s DNA can be searched against these databases

  8. Hands On • “Searching Johnny’s DNA Sequences” handout • Follow the directions given in the handout

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