Genetics Diseases Flashcards
What are the x linked dominant diseases?
Rett syndrome
Fragile X
Vitamin D rickets
What are the x linked recessive diseases?
Hemophilia
g6PD (fava beans)
Ornithine transcarbamylase deficiency
Duchenne muscular dystrophy
Autosomal dominant diseases?
Achondroplasia Neurofibromatosis Huntington’s Hereditary tumors/cancer Hyper cholesterolemia
Autosomal recessive diseases?
All lysosomal storage diseases (Tay sachs, gauchers, I cell, etc) Sickle cell Cystic fibrosis PKU
Causes of sex reversal can be due to DAX or SOX mutations.
A SOX mutation results in?
XY FEMALE
A SOX duplication results in
XX MALE
A DAX duplication results in
XY FEMALE
Transfer of SRY from Y TO X results in
XX MALE
Chronic myologenous leukemia (CML) involves a translocation of the _____ from chromosome __ to __.
ABL Proto oncogene
9-22, forming the Philadelphia chromosome
The BCR ABL is ______protein with increased _______activity which causes excessive myeloid precursor proliferation.
Chimeric fusion protein
Tyrosine kinase
Management of the disease by drug called Gleevec, a tyrosine kinase inhibitor
Burkitts lymphoma is characterized by large B cell tumors in the jaw. It involves what proto-oncogene translocation
MYC proto oncogene from 8 to 14
MYC is a _______, and expression is under the control of the ______ region of the immunoglobulin heavy chain genes.
Transcription factor
Promoter region
Follicular lymphoma involves what anti-apoptotic factor ?
bcl-2 proto oncogene
BCL2 is translocated from ___ to ____. It is also placed under control of the promoter region of the heavy chain genes.
18 to 14
If bcl2 is anti apoptotic, what will elevated levels of it lead to ?
Prevent death of B cells leading to over expansion
