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2: Principles of Molecular Genetics (IC) by Mind Map: 2: Principles of Molecular Genetics
(IC)
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2: Principles of Molecular Genetics (IC)

Gene expression

Transcription

in the nucleus

promotors

3' to 5' prime

RNA polymerase

RNA coding region

terminator

mRNA does not have a promoter so it's shorter

Splicing

introns are removed

Translation

in the cytoplasm

tRNA anticodons --> same as original DNA

Folding of protein

Terminology

Gene

Genome

Chromosomes

DNA

Allele

alternative form of a gene at a given locus

homozygous

heterozygous

Locus

the specific physical location of a gene on the chromosome

Telomere

Centromere

Mb, Kb and bb

Phenotype

Genotype

Dominant

only one allele needs to be mutated to cause the disease (heterozygous)

Recessive

the two alleles must be mutated to cause the disease (homozygous)

Pedigree

a family tree

Proband

the affected person or the one that you are testing

Human genome

23 pairs of chromosomes

discovered in the 60s

22 autosomes

2 sex chromosomes

The central dogma

DNA -> RNA -> Protein

Nuclear DNA, 30000 genes, only 2% coding DNA, 98% non coding, 3 billion base pairs, has exon and intron, used with evidence such as saliva, semen, and blood, for disease diagnosis take from peripheral blood

Mitochondrial DNA, circular piece of double-stranded DNA, Maternal inheritance, 93% coding DNA, High mutation rate, has exon only, used with evidence such as bones, hair, and teeth, for disease diagnosis take from muscles

Human inheritance

Pattern

Mendelian, Autosomal dominant, no skipping, male to male is present, autosomal recessive, male to male is present, skipping, x-linked recessive, Only males affected, Because females have 2 Xs, so they are rarely affected, Affected males relate through carriers females, No male to male, Skipping, x-linked dominant, no male to male, no skipping, All daughters of affected males are affected

Non-Mendelian, imprinting, mitochondrial, from the mothers only, multifactorial, sporadic

how to evaluate a pedigree

transmission, male to male, female to female, skipping, recessive or dominant, autosomal or x-linked

sex differences

segregation

Genetics information databases

OMIM

POSSUM

Oxford medical databases

chromosome databases

Gene clinics: medical genetics knowledge base

ORPHANET