GERMLINE AND SOMATIC

MUTATIONS

Prepared by :- Unnati sahu

 INTRODUCTION

 Genes and chromosomes can mutate in either

somatic or germinal tissue, and these changes
are called somatic and germinal mutations respectively.
 Somatic mutation are not transmitted to
progeny, but germinal mutations may be
transmitted to some or all progeny.
MUTATION
A random change in gone or chromosome
that results in a new characteristic that can be inherited.

Types of mutation :-
1) Germline mutation
2) Somatic mutation
GERMLINE MUTATIONS

 Germ line mutations occurs in the germinal

tissue.
 They can be passed on to the next
generation.
 Every cell in the off spring body has the
mutation.
 They are de-novo mutations.

 Eg: when gene like PTPN11 is mutated ,which

encodes for SHP2(phosphatase) SHP2 gets
overactive, condition called NOONANS
syndrome.

 It depends on particular gene, which is

mutated.
SOMATIC MUTATIONS
 Somatic mutation happen in other cells
beside germline tissues.

 Cannot be inherited by off spring.

 These mutations are main cause of cancer(i.e

cancers that are not heredity)
 Somatic mutation of the gene called
Ras,P53,P13K,PTEN leads to cancer.

 If tumor DNA is sequenced, mutation is seen

where as healthy tissue doesn't show any
mutation.
REFFERENCE
 https://www.sciencedirect.com/topics/agricultural-and-
biological-sciences/germline-mutation
 https://www.britannica.com/science/mutation-genetics
 https://www.ncbi.nlm.nih.gov/NBK21894