Biology 1202B Lecture Notes - Lecture 19: Potentiator, Wild Type, X-Inactivation
Document Summary
Lecture 19 human genomics and genetic disease ii. X and y chromosome aneuploidy are more frequent than autosomal abnormalities which shows that they are more frequent and people can survive more w/ these abnormalities in chromosomes. Autosomal abnormalities are more severe in comparison to sex chromosome abnormalities. The x and y chromosome are also much smaller. Structural abnormalities occur when one chromosome breaks and rejoins abnormally. When it is repaired, it is repaired improperly. When they are balanced, all of the genetic information is still there. In unbalanced rearrangements, genetic material is either added or removed. More children are born w/ balanced abnormalities. In genetics, more is not always better. Numerical abnormalities quantitatively alter the gene expression. Structural abnormalities can change the expression of the gene. Some regions are meant to be expressed by only one chromosome. Many abnormalities are due to improper gene dosage. There are two trisomy"s which survive after birth (18, 13)