BIOL 1001 Lecture Notes - Lecture 18: Nervous System Disease, Glutamine, Reverse Transcriptase

• School: Temple University
• Department: Biology
• Course: BIOL 1001
• Professor: Craig Brumwell

Document Summary

Human x-linked recessive disorders: red/green color blindness, hemophilia a missing a clotting factor, duchenne muscular dystrophy (dmd, ornithine transcarbamylase (otc) deficiency. In severely affected individuals, ammonia concentrations increase rapidly causing ataxia, lethargy and death. Unusual x-linked dominant trait: faulty enamel trait approx. Sca, croh(cid:374)"s: snp variants in region of dna that harbors multiple immune-related genes strongly associated with schizophrenia, basis for genetic tests such as 23andme, some snps are associated with metabolism of different drugs, ancestry studies. 2 snps heightened sensitivity to chloroquine: african americans, kurdish, hereditary hemochromatosis, an iron overload disorder; g to a snp, hereditary thrombophilia, a blood clot disorder. Changes in chromosome structure: deletions, loss of some segment of a chromosome, most deletions are lethal or cause serious disorder. . 00: brca1 and brca2 [patents held by myriad genetics] - tumor suppressor genes. Mutation of these genes linked to hereditary breast and ovarian cancer. Brca mutations cause loss of dna repair during dna replication.