In the recent past, microarray technology has been extensively used by the scientific community. Consequently, over the years, there has been a lot of generation of data related to gene expression. This data is scattered and is not easily available for public use. For easing the accessibility to this data, the National Center for Biotechnology Information ( NCBI ) has formulated the Gene Expression Omnibus or GEO . It is a data repository facility which includes data on gene expression from varied sources.
Sickle Cell Anemia: A patient and his wife come in to see you with a concern. The patient has a history of sickle cell disease in his family, but neither of his parents have exhibited any symptoms. The wife is an immigrant from rural tropical Africa and has no idea if her family has any history of sickle cell disease. However the area she is from has a high incidence of sickle cell anemia in the population. The couple has 2 children, ages 4, 8 and would like to have another. Their kids don’t know about the history of the disease. The couple has come to you for advice on whether or not to have another child, and what to tell their children about the family medical history. [One 50 min class period for introduction, 50 min gel electrophoresis, and partial class period follow-up and final analysis]
Exchange of DNA during meiosis between improperly aligned segments of DNA that can result in a gain or loss of DNA. Circumstances that predispose to unequal crossing over are misalignment of: (1) highly homologous segment duplications (low copy repeats) referred to as non-allelic homologous recombination which result in recurrent deletions or duplications; and (2) a gene and its pseudogene in tandem on a chromosome (., CYP21 and its pseudogene CYP21P ; GBA and its pseudogene GBAP ) which result in de novo pathogenic variants.