BMD RES 10H Lecture Notes - Lecture 4: Antibody, Cytoskeleton, Intellectual Disability
11 Oct 2017
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Document Summary
People with small duplication in 15q11-13 have an extra copy of about a dozen genes. Some regions in chromosomes are weaker (break easily) During meiosis, homologous chromosomes exchange genetic material = swaps info. Imprinting (center) = shut down gene permanently (identical pieces of info) = crossing over (whole segments - almost - of chromosomes swap) Sometimes chromosomes line up incorrectly (mismatch) = one chromosome will have extra info = duplication. while the other loses info = deletion = both chromosomes are wrong = lead to developmental defect (like dup15q) Autism can sometimes be passed on (parents have it, sometimes their kids will have it too) - often it doesn"t run in the family (occurs spontaneously) Dr. kugler is the first person to study cyfip1 to see it"s connection to autism (only studying one unknown gene at a time, so there is less variable to control)
