Flashcards in Inherited Diseases Deck (44):
What are the 2 mutations possible responsible for ADPKD?
Which gene is responsible for familial adenomatous polyosis?
Inheritance pattern of familial hypercholesterolemia?
Inheritance pattern of hereditary spherocytosis?
The trinucleotide repeat for huntington disease is associated with which chromosome?
What chromosome is marfan syndrome FBN1 associated with?
What is the interitance pattern of MEN syndromes?
What chromosome is NF1 gene on?
What chromosome is NF2 gene on?
What chromosome is the VHL gene on?
What is the inheritance pattern of VHL?
What is the inheritance pattern of NF2 and NF 1?
What chromosome is the CFTR gene on?
What is the mutation in CFTR gene/
What does CFTR encode?
ATP gated Cl- channel (that secretes Cl- in lungs and GI tract and reabsorbes Cl- in sweat glands)
What does the CFTR mutation result in?
Misfolded protein leading to the protein being retained in the RER and NOT transported to the cell membrane
What is the inheritance of lesch- Nyhan syndrome?
What is the inheritance of cystic fibrosis?
Why is the mucus so thick in Cystic fibrosis?
Because increased intracellular Cl- leads to increased Na reab--> increased H2O reabsorption--> abnormally thick mucus
Inheritance pattern of Kartagener syndrome?
Inheritance pattern of albinism?
What is the inheritance pattern of bruton agammaglobinulemia?
X lined recessive
What is the inheritance pattern of hemophelia A/ B?
X liked recessive
What is the inheritance pattern of ornithine transcarbamylase deficiency?
x linked recessive
What is the inheritance pattern of DMD and BMD?
X linked recessive
What is the type of mutation seen in DMD?
Frameshift mutation leading to a truncated dystrophin protein
What type of mutation is seen in BMD?
non-frameshift insertion--> partially functional
"X linked defect affecting the methylation and expression of FMR1 gene"
Fragile X Syndrome
What are the symptoms of Fragile X?
eXtra large testes, jaw and ears
What is the mutation in fragile x?
Trinucleotide repeat disorder
Rocker bottom feet, micrognathia, low set ears?
Amniotic fluid levels of beta hCG, aFP, estriol and inhibin A in Edwards Syndrome?
Amniotic fluid levels of beta hCG, aFP, estriol and inhibin A in Down Syndrome?
increased beta hCG and inhibin A
decreased aFP and estriol
"severe intellectual disability, rocker bottom feet, cleft lip and palate, holoprosencephaly, death within 1 year"