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CANCER BIOLOGY

MUTATION

QuestionAnswer
POINT MUTATION SUBSTITUTION, ADDITION, DELETION IS A CHANGE IN A SINGLE NUCLEOTIDE
SILENT POINT MUTATION SAME PROTEIN SEQUENCE (SYNONYMOUS) -CHANGE IN A TRIPLET 3RD NUCLEOTIDE
MISSENSE POINT MUTATION DIFFERENT PROTEIN SEQUENCE -FORM A NEW TRIPLET THAT CODES FOR ANOTHER AA -REPLACEMENT MAY OF MAY NOT CHANGE PROTEIN FUNCTION
NONSENSE POINT MUTATION FORMS STOP CODON -PROTEIN FUNCTION STOPS -STOP CODONS: UGA, UAG, UAA
FRAMESHIFT MUTATION +/- NUCLEOTIDE PAIR THAT ALTERS THE READING FRAME OF A GENE
MUTATION DISORDERS PHENYLKETONURIA, SICKLE CELL, TAY-SACHS, COLOR-BLINDNESS, CYSTIC FIBROSIS, HEMOPHILIA
POINT MUTATIONS & GENE EXPRESSING CAN OCCUR DURING TRANSLATION VIA SPLICING
CHROMOSOME ABNORMALITIES RECIPROCAL TRANSLOCATION, DUPLICATION, INVERSION, DELETION
CHROMOSOMAL RELATED DISEASES ANEUPLOIDY RELATED: DOWN SYDROME, KLINEFELTER SYDROME (XXY), TURNER SYNDROME (XO)
SOURCE OF NE ALLELES -MUTATION -SOURCE OF GENETIC VARIATIONS CAN BE BENEFICIAL
Created by: dgira002
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