ANSC 3323 Lecture Notes - Lecture 6: Cystic Fibrosis, Abortion, Chromosomal Translocation
Document Summary
Pgd, pgs (preimplantation genetic diagnosis/screening/testing: used for people who meet the following criteria. Difficulty conceiving due to low sperm count. Individual or partner carry balanced structural chromosome rearrangement or autosomal dominant genetic disease. Individual or partner carry an x-linked genetic disease. Stem cells to treat other children"s disease: tests performed on embryos prior to implantation. Maybe used for fertile couples: may involve sperm sorting, main goals of pgd/pgs. Injection of kcl into fetal heart during first trimester: embryo biopsy 1500-2200 dollars. Why pgd/pgs: chromosomal mutations and genetic defects. Arise spontaneously or can be induced by chemicals or radiation. Major contributors to human miscarriage, stillbirth, genetics. Of all spontaneous abortions result from chromosomal mutations: aneuploidy is the most common cause for early pregnancy failure. + extra or missing chromosomes causes developmental defects or death. Trisomies (common, viable either in whole or in mosaic presence: 21. Polysomy x syndrome: trisomies of other chromosomes.
