Genetik

Gene mutations are caused by changes in the sequence nucleotides. causative angents mutations are called mutagens. whereas individuals who show changes in the nature result of a mutation is called a mutant.

Nama: RAMA YANA
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protein synthesis process

transcription

tranlation

Initiation

Elongation

Termination

inasiasi

RNA polymerase binds to the DNA chain (promoter)

moves RNA polymerase along the DNA strand that acts as a template (DNA template)

a sign that the transcription process has been completed

elongasi

terminasi

Trait heir

inheritance of traits passed on from the parent or parents to their children or offspring

GEN

example

skin color

hair shape

earlobe attachment type

blood group

Nutrion

differencei

Nutrigenetik discribes the interaction of genetic variation with the environment including the nutrients contained in food

nutrigenomic shows the impact of intake of nutrients on gene expression , wherw nutriens can activate or ignorgan certain ganes

DNA

RNA

Chromosomes

Genes

gene mutation

Gene mutations are point mutation.on these mutationsoccur chemical changes in one or seral base pairs in a single gene thet causes changes in individual propeties without changes in the amount and chromosome arrangement

Types of Gene Mutations

based on the incident

Spontaneuos mutation

induced mutation

based on the type of cell that is mutated

somatik mutation

ga,etik geminal mutation

based on changes in the genetic code

missense mutation

silent mutation

nonsense mutation

frameshift mutation

genetic disorders

sindrom cri du chat

sindrom turner

sindrom down

sindrom klinefelter

sindrom patau ,dll

type of genetic disorder

mitocondrial diasorders

multifactorial disorders

chonoson disorders

mendelian disorders

somatic genetic disorders

New born screening

hearing loss:

Age 0-28 days Examination of OAE (otoacoustic emissions)

Impaired Vision (In premature babies) Age 2-4
week of eye examination

Congenital Hypothyroidism
Age 48-72 hours Examination of blood on the heel of the foot

Congenital critical heart disease

Age <24 hours Pulse oximetry