WK1 Medical Genetics and Genomics

Question 1

1.What is Leigh Syndrome?
2.What are the genes associated?
3.What the are modes of inheritance?

Answer 1

1.Leigh syndrome is often in infants which starts with vomiting, suffering diarrhoea and failing to thrive.
2. SURF-1 is the associated gene

3.
-Leigh syndrome is commonly inherited in an autosomal recessive pattern (children of two carrier parents have a 25% chance of inheriting both mutations and suffering the condition)

-Leigh syndrome associated with mutations in one or more of 37 different mitochondrial genes, in which case the syndrome would show a mitochondrial pattern of inheritance (mother to all children). Mutations in MT-ATP6(mitochondrial) causing 10% of Leigh Syndrome cases

-Very rarely Leigh syndrome caused by mutations on the X chromosome, have a 50% chance of boy of being affected)

Question 2

1.How does CYP2D6 work in the liver
2.What are the genetic variations

Answer 2

1.CYP2D6 coverts codeine to morphine in the liver
2. Genetic variations (polymorphisms) cause enzyme to work in different speeds

Question 3

What is genetic and genomic?

Answer 3

Genetic is study of gene and genetic variation

Genomics is the use recombinant DNA techniques, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyse the structure of genomes and the functions of various parts of genomes

Question 4

What are the different types of Genetics

Answer 4

Prevention Genetics- focusses on the prevention of disorders through the application of genetic and genomic techniques

Human Genetics- The field of Human genetics, may or may not apply to medicine

Medical genetics- the diagnosis and management of hereditary disorders

Genetic Medicine - incorporating ‘personalised &predictive medicine

Question 5

How does the Central Dogma work?

Answer 5

Info Trans
-DNA to DNA (Replication
-DNA to RNA (Transcription)
-RNA to Protein (Translation)

Occasional info trans
- RNA to RNA
-RNA to DNA
-DNA -Protein

Central Dogma never occur
-Protein to Protein
-Protein to DNA
-Protein to RNA

Question 6

What is mutation and polymorphism?

Answer 6

Mutation is a change in the genetic code
Polymorphism is a variant present in a population.

Question 7

What is a gene, allele and locus

Answer 7

An allele is a variant form of a gene.

A gene is the basic physical and functional unit of heredity

A locus is a term that we use to tell us where on a chromosome a specific gene

Question 8

When are blood samples,Buccal swabs and Biopsy suitable for use?

Answer 8

1. Buccal swab suitable for paternity test and as a diagnostic tool for infectious or inherited conditions
2. Blood sample for infant zygosity testing
   3.Biopsy for cancer

Question 9

What is Chain termination based on?

Answer 9

Elongation of DNA chains with DNA polymerase

CT and gel electrophoresis methods depend on analytical polyacrylamide not agarose.