12 Questions
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.
UV
The XPC protein is involved in ______ recognition.
dna damage
The TFIIH complex is involved in ______ initiation and NER.
transcription
The mutation in the ______ gene leads to the development of XP.
XPC or ERCC2
The CHK1 gene encodes for the ______ protein, which has a kinase domain.
CHK1
A mutation in the ______ gene causes Colorectal cancer.
CHK1
Retinitis Pigmentosa is an inherited form of ______ that results in a loss of rods and cones cells within the retina.
retinal blindness
A mutation occurs Thr494Met in the C terminal of the ______ gene.
PRPF3
The dysregulation of ______ required for retinal function leads to the development of RP.
PRPF3
Test your understanding of DNA replication and mutation, specifically in the context of Alpers syndrome, a rare genetic disorder caused by a mutation in the POL1 gene. Learn about the effects of this mutation on mitochondrial DNA polymerase activity.
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