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A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoosper

A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia. Research Presented By: Jameliya L. Hall Seminar 475-01 October 13, 2003. Study Conducted By: Knoke, I., S. Jakubiczka, H. Lehnert, and P. Wieacker. Introduction .

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A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoosper

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  1. A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia Research Presented By: Jameliya L. Hall Seminar 475-01 October 13, 2003 Study Conducted By: Knoke, I., S. Jakubiczka, H. Lehnert, and P. Wieacker

  2. Introduction What is Androgen Insensitivity Syndrome (AIS) • Genetic Disorder (carried on X chromosome) © Warne G.L. “Androgen Insensitivity Syndrome” 1997

  3. Introduction What is AIS? • Cause: Mutation in Androgen receptor © http://ww2.mcgill.ca/androgendb/ARmodel.jpg

  4. Types of AIS • Complete: (CAIS) body completely unresponsive to androgens (female external genitalia) • Partial: (PAIS) body partially responsive to androgens (genital ambiguity) • Minimal: (MAIS) body has minimal response to androgens (normal male genitalia, infertility)

  5. What is the Rational? • Identification of a mutation that changes a codon for one amino acid into a codon for a different amino acid in a male with mild features of AIS.

  6. Independent Variable vs. Dependent Variable • Independent Variables: Patient with partial androgen resistance and the Control • Dependent Variable: AIS (Type of mutations observed in the AR gene)

  7. Patient: 30 year old male Approx. 155.426 pounds Approx. 5.67585 feet Abnormalities in patients’ genitals since birth Age 12: corrective surgery for genital abnormalities Age 12-13: breast developed Testes volume measured as 11 and 10 ml Background Patient

  8. Sperm Count (very low) <01. million ml-1 Normal >20 million Luteinizing Hormone [LH] (elevated) <9.8 U 1 -1 Normal <6 U 1 -1 Testosterone (normal) 14.2 ng ml -1 Follicle Stimulating Hormone [FSH] (normal) 5.9 U 1-1 Background Patient

  9. Supporting Data • A point mutation (GTCCTC) in codon 911 in exon H • Tranversion leads to a valine (C5H11NO2) to leucine (C6H13NO2) substitution

  10. Supporting Data • A = Patient • B = Control Person

  11. Conclusion • Point mutation (Val911Leu) in exon H • A mutation found in the steroid binding domain of the AR gene changes a codon for one amino acid into a codon for a different amino acid

  12. Bibliography • Knoke, I., S. Jakubiczka, H. Lehnert, and P. Wieacker. 1999. A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia. Andrologia 31:199-201 • Pease, R.W. editor. 1996. Merriam webster’s medical desk dictionary. Merriam-Webster Inc., Springfield. • Warne, G.L. 1997. Complete androgen insensitivity syndrome. Pp. 14. Department of Endocrinology and diabetes, Australia. • http://www.sciencemadesimple.net/conversions.html • http://www.dictionary.com • http://www.wikipedia.org

  13. Bibliography • http://ww2.mcgill.ca/androgendb/ARmodel.jpg • http://www.bsped.org.uk/NN/CAIS.htm • http://hdklab.wustl.edu/lab_manual/dna/dna2.html • http://www.gpnotebook.co.uk/cache/-1221263285.htm

  14. THE END…. ANY QUESTIONS ???

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