DNA Replication and Mutation: Alpers Syndrome
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Questions and Answers

Alpers syndrome is a rare heritable autosomal recessive disorder that affects ______.

children

The POL1 gene encodes for the mitochondrial dna polymerase ______.

Y

When a mutation occurs, the tryptophan is replaced with ______ acid.

glutamic

Xeroderma Pigmentosum is an inherited condition that causes dry skin when exposed to ______ rays from the sun.

<p>UV</p> Signup and view all the answers

The XPC protein is involved in ______ recognition.

<p>dna damage</p> Signup and view all the answers

The TFIIH complex is involved in ______ initiation and NER.

<p>transcription</p> Signup and view all the answers

The mutation in the ______ gene leads to the development of XP.

<p>XPC or ERCC2</p> Signup and view all the answers

The CHK1 gene encodes for the ______ protein, which has a kinase domain.

<p>CHK1</p> Signup and view all the answers

A mutation in the ______ gene causes Colorectal cancer.

<p>CHK1</p> Signup and view all the answers

Retinitis Pigmentosa is an inherited form of ______ that results in a loss of rods and cones cells within the retina.

<p>retinal blindness</p> Signup and view all the answers

A mutation occurs Thr494Met in the C terminal of the ______ gene.

<p>PRPF3</p> Signup and view all the answers

The dysregulation of ______ required for retinal function leads to the development of RP.

<p>PRPF3</p> Signup and view all the answers

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