Endocrine genetics Flashcards
extra information
Which HLA genes are associated with Type 1 Diabetes?
HLA-DR3 and HLA-DR4
polygenic
Which gene is strongly linked to Type 2 Diabetes?
TCF7L2
What inheritance pattern does Maturity-Onset Diabetes of the Young (MODY) follow?
Autosomal dominant (AD)
Which gene mutation is associated with Familial Medullary Thyroid Cancer?
RET proto-oncogene mutation
Which immune-related genes are linked to Graves’ Disease and Hashimoto’s Thyroiditis?
HLA-DR3 and CTLA4
What is the most common genetic cause of Congenital Adrenal Hyperplasia (CAH)?
CYP21A2 mutation
(21-hydroxylase deficiency)
Which genetic mutations are associated with pheochromocytoma and paraganglioma?
RET (MEN2)
VHL
SDH gene mutations
What is associated with primary hyperparathyroidism
MEN1
What is the difference between monogenic and polygenic inheritance?
Monogenic involves a single gene, while polygenic involves multiple genes and environmental factors
What study method is used to evaluate polygenic diseases?
Genome-Wide Association Studies (GWAS)
What are the three main types of single nucleotide variants (SNVs)?
Missense
Nonsense
Splice site alterations
What is the difference between in-frame and out-of-frame indels?
In-frame indels cause amino acid changes, while out-of-frame indels lead to frameshift mutations and protein truncation
What method is used to test a single gene?
Sanger sequencing
What type of mutations typically cause loss of function (LOF)?
Nonsense, frameshift, or splice site mutations
Which technique is used for diseases with genetic heterogeneity?
Next-generation sequencing (NGS)
