Inactive, more dense (darkly) and formed by methylation histones.

Heterochromatin

A mutation in this promoter prevents the binding of GENERAL TRANSCRIPTION FACTORS

TATA box

Only this structure has its own DNA without Histones in its structure.

Mitochondria

Its DNA is code for components of the electron transport chain.

Mitochondria

Chromatin Region that it's active, less dense, can be transcriptional and its formed by acetylation of histones.

Euchromatin

Structure of the chromatin that has the appearance of "beads on a string".

Histones

Protein that links the DNA to the histones.

H1 protein

Bind enhancer to promote transcription and can be upstream or downstream

Activators

Binds silencers to decrease transcription.

Repressor

5-Fluorouracil îs a drug used in chemotherapy, produce severe gastrointestinal symptoms and inhibits the metabolic pathway of...

Pyrimidine

Allopurinol used for Systemic lupus erythematosus inhibits the enzyme:

Xantine Oxidase

Azathioprine is a prodrug that produce 6-mecaptopurine who inhibits the pathway...

novo purine synthesis

When you use Allopurinol and Azathioprine you produce bone marrow suppression that it's causes for an accumulation of...

6-mercaptopurine

Development delay, self-mutilation (hand/lio biting or smashing), orange urine crystals, hiperuricemia and there are a deficiency of guanine and GMP

Lesch Nyhan Syndrome

The Lesch Nyhan Syndrome is caused by a

HGPRT deficiency

Becomes the guanine in GMP (nucleotide)

HGPRT

The guanine that accumulates when there is HGPRT deficiency become in:

xanthine (uric acid)

Drugs used for Lesch Nyhan syndrome

Allopurinol and Febuxostat (inhibits xantina oxidase)

Bases substitution that results in a early stop, usually are

UAA, UAG, UGA "(AA, AG, GA) GAGA" to remember

Hypotonia, feeding difficulties with a mutation in the SMN1 (deletion of a single nucleotide)

Duchenne muscular dystrophic

When a nucleotide is missing or added (deletion or insertion) and it is no divisible by 3 there is a:

Frameshift mutation (truncated non-functional protein)

Grown delay and unusual face and a mutation that disrupts the removal of introns

Marfan syndrome

Mutation than disrupts the removal of introns and retain it in mRNA.

Slice site mutation

Desease causes by a mutation that affects the mismatch repair

Lynch syndrome (HNPCC)

Photosensitivity, dry skin, multiple skin cancer and dymeres of pyrimidines

Xeroderma pigmentosum

In Xeroderma pigmentosum which mechanism is affect

Nucleotide excision repair (endonuclease remove the oligoneuclotides)