• What is a chromosome
• What is chromatin
• What are exons and introns
• What is a gene & what is it made of?
• Name 3 types of RNA and their job
• What is alternative splicing
• What is the abnormality called when the chromosomes stick together & don't separate? give examples of genetic disorders caused by this
• what is the karyotype of klinefelter
• give some ways in which chromosomal structural abnormalities can occur (e.g inversion)
• which mutation is stop codon
• which mutation is different amino acid
• which mutation is caused by deletion or insertion
• Name some laboratory methods to detect mutation (3)
• What is the difference between mendelian and non-mendelian inheritance?
• Is mitochondrial inheritance maternal or paternal?
• how to tell if inheritance is autosomal dominant
• What is uniparental diploidy?
• What is uniparental disomy?
• What is the mode of inheritance of cystic fibrosis?
• What is the difference between congenital heart disease and genetic heart disease?