MIMG CM156 Chapter Notes - Chapter 10: Phenylalanine Hydroxylase, Tryptophan, Fabry Disease

• School: UCLA
• Department: Microbiology, Immunology, and Molecular Genetics
• Course: MIMG CM156
• Professor: Merriam John

Document Summary

Amplification and analysis of dna sequences in single human sperm and diploid cells : single-cell genetic analysis. Throw out embryos that have mutation (~1/2 for dominant) & put in ones that tested negative by single-cell pcr into mother"s uterus. All cells pluripotent so taking 1 cell, won"t hurt the embryo. Simple non-invasive method to obtain dna for gene analysis : summary. Technique described which demonstrates that sufficient human dna for direct gene analysis that can be isolated from buccal epithelial cells, obtained by mouthwash. Much simpler and cheaper than existing methods and, combined with. Dna amplification bby pcr, should allow community screening for carrier status for single gene defects such as cystic fibrosis. Applications of molecular genetic testing: clinical diagnosis/confirmation, carrier screening, prenatal diagnosis. I. e. , cf, hunington"s ,breast cancer: consider generally asymptomatic coming in, and could end up giving tough news (ethical issues) Elsi: ethical, legal and social implication program, national human genome research institute.