Untitled

-ABCDEFGH-

DELETE

-ABCEFGH-

-ABCDEFGH-

INVERSE

-ADCBEFGH-

-ABCDEFGH-

DUPLICATE

-ABCBCDEFGH-

-ABCDEFGH- -MNOCDEFGH-

TRANSLOCATE

-MNOPQR- -ABCPQR-

CHROMOSOMAL ABERRATION

E.G. CRI DU CHAT

DELETION

DuPLICATION

INVERSION

TRANSLOCATION

TYPES OF GENE MUTATION

BASE SUBTITUTION

-AAGGCCA-

SUBSTITUTE

-AAGACCA-

EEFECT : Silent,nonsense and missense mutation

BASE DELETION

BASE INSERTION

BASE DELETION

-AAGGCCA-

DELETE

-AAGCCA-

EFFECT : FRAMESHIFT MUTATION