Genetics Flashcards
Genes and Chromosomes associated with Early onset Alzheimer
Amyloid Precursor Protein gene on chr 21, Presenelin 1 gene on chr 14, Presenelin 2 gene on chr 1
Huntington Disease Brain Region affected
Atrophy of the caudate, changes to putamen as well, collectively these are the striatum
Stop Codons
UAA, UAG, UGA
MEN1
Pituitary tumors, Pancreatic endocrine tumors, Parathyroid adenomas
Mutation in MEN1
Menin protein, a tumor suppressor, gene on chromosome 11
MEN2A
Parathyroid hyperplasia, Medullary thyroid carcinoma, Pheochromocytoma
Mutation in MEN2A
RET oncogene, receptor tyrosine kinase in cells of neural crest origin
MEN2B
Marfanoid habitus, Medullary thyroid carcinoma, Pheochromocytoma, Mucosal neuromas (oral/intestinal ganglioneuromatosis)
Mutation in MEN2B
RET oncogene, receptor tyrosine kinase in cells of neural crest origin
Pituitary tumors, Pancreatic endocrine tumors, Parathyroid adenomas
MEN1
Parathyroid hyperplasia, Medullary thyroid carcinoma, Pheochromocytoma
MEN2A
Marfanoid habitus, Medullary thyroid carcinoma, Pheochromocytoma, Mucosal neuromas (oral/intestinal ganglioneuromatosis)
MEN2B
Inheritance of all MEN syndromes
Autosomal Dominant
Neurofibromatosis 1
Cafe-au-lait spots, cutaneous neurofibromas, axillary or inguinal freckling, optic glioma, iris hamartomas, osseous lesions, pheochromocytoma
Neurofibromatosis 2
More central form: bilateral acoustic neuromas, brain meningiomas, and schwannomas of the dorsal roots in the spinal cord