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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

Splicing

Translation

Folding of protein

Terminology

Gene

Genome

Chromosomes

DNA

Allele

alternative form of a gene at a given locus

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

The central dogma

DNA -> RNA -> Protein

Human inheritance

Pattern

how to evaluate a pedigree

Genetics information databases

OMIM

POSSUM

Oxford medical databases

chromosome databases

Gene clinics: medical genetics knowledge base

ORPHANET