Week 6 Flashcards
What are the four types of Mendelian inheritance patterns ?
Autosomal dominant
Autosomal recessive
X-linked recessive
X-linked dominant
What are Dominant conditions?
manifest in heterozygotes , individuals with just one copy of the mutant allele
What is the effected probability for males vs. females in Autosomal Dominant ?
Equal probability of passing trait to offspring , only takes one mutant allele so children can have 50% chance of getting one mutant allele
What are the two examples of Autosomal dominant conditions ?
Huntington Disease
Acondroplasia (short-limbed dwarfism)
What are they two examples of autosomal recessive diseases?
Cystic fibrosis
Phenylketonuria (PKU)
True or false:
X-linked recessive traits are not clinically manifest when there is a normal copy of the gene?
True
What are the two examples of X-linked recessive disorders ?
Duchenne muscular dystrophy
Hemophilia A
True or false:
In X-linked dominant , an affected male will always pass the trait and the daughter will be effected
True- only takes the single X chromosome the father has to transmit the disease
What are two examples of X-linked Dominant disorders ?
Some forms of retinitis pigmentosa
Chondrodysplasia punctate
Mitochondria have_____ copies of a circular chromosome.
multiple
Mitochondria are only inherited from the _______ thus only females can transmit the trait to offspring.
mothers egg
The mitochondria generate energy for the rest of the cell, therefore disease transmitted through mitochondrial inheritance affects ______.
high energy organs
Metabolic disorders can be due to what two things?
enzymatic defects or a deficiency in a necessary cofactor
What are the common co-factors for amino acid metabolism?
BH4
THF
Cobalamin (B12)
What can be detected in urine for BCAA disorders ?
high level of metabolic intermidiates
What is a metabolic disorder that increases chance for thrombosis (blot clot in blood vessel) or cardiovascular disease ?
Hyperhomocysteniemia
What is Tyrosinemia ?
Mostly heritable disease, body can not break down Tyrosine and leads to accumulation that cases liver/kidney problems, mental impairment, and can be fatal
How many essential AA vs non-essential
11 non-essential
9 are Essential- must come from diet
True or false:
Amino acids are not stored.
True
What are the primary Ammonia (NH4) carrying amino acids to send to liver?
Alanine
Glutamine
What 4 things can Amino acids be used for (since they are not stored) ?
- Protein synthesis
- Precursors for neurotransmitters (glutamine)
- Transport ammonia (NH4) in body
- Deaminated to use carbon-skeletons for Glucose synthesis or TCA cycle intermediates
What does a glucogenic AA do ?
provides substrate to synthesize glucose (gluconeogenesis)
What does a ketogenic AA do ?
produces acetyl-CoA or Acetoacetate (accepted through TCA cycle)
Which AA can be converted to Pyruvate ?
Alanine
Serine
Cysteine
(three other AA are precursors to these too )