Genetics and pharmacy

Trait

Inheritable characteristic in individual

Mutation

Change in a gene sequence

Allele

One of the different variants of a gene

Polymorphisms(variants)

Differences in the DNA between alleles

Genotype

The combination of alleles in the DNA sequences of individual

what type of genetic disease is Huntingdon

Autosomal dominant

what type of genetic disease is Cystic Fibrosis

Autosomal recessive

what type of genetic disease is Duchenne muscular dystrophy

X-linked recessive

Meiotic recombination

Reshuffles gene variants

GWAS

Genome wide association studies

How many autosomal chromosomes are in the Human genome?

44

pharmacogenetic variant

A polymorphism that is linked to the efficacy or toxicity of a drug

Which parent are mitochondrial mutations inherited from?

Mother only

What is polymorphism in Mitochondrial ribosomal RNA linked to?

deafness After treatment with aminoglycoside antibiotics —> act on bacterial ribosomal RNA → some mutations in 12S rRNA causes sensitivity to aminoglycosides

What type of mutations are not passed to children ?

Somatic mutations

What does the Philadelphia chromosome abnormality result from?

Translocation in somatic cells (associated in Philadelphia syndrome)

What does the Philadelphia chromosome lead to

Generation of a fusion gene in a blood stem cell generates a tyrosine kinase that causes leukaemia