Molecular Medicine/Forensics Flashcards
Monogenic Recessive Disorders
- Cystic Fibrosis
- Phenylketornuria
- Tay-Sachs
- Thalassaemia
- Sickle Cell
- Galactosaemia
Autosomal Dominant Disorders
- Huntington’s Disease
- Myotonic dystrophy
- Familial hypercholesterolaemia
- Breast Cancer (BRCA1 BRCA2)
- Familial Alzheimer’s disease
X-Linked Disorders
- Hemophilia A/B
- Duchenne Muscular Dystrophy
- Fragile-X syndrome
- X-linked severe combined immunodeficiency
Penetrance definition
frequency with which a particular genotype manifests itself in the phenotype-complete/incomplete
Phenocopy
same symptoms may be the same from virus’ or inherited
Anticipation
Severity of disease increases with succeeding generations-muscular dystrophy
Genomic imprinting
expression of disease depends on the parents from which it was inherited
Prader-Willi syndrome-father
Angelman syndrome-mother
Expressivity
Same disease alleles but differences in severity
Mosaicism
All body cells are not genetically identical
Complex Disorders-Congenital
- Neural tube-spina bifida/anencephaly
- Congentital heart disease
- Cleft lip palate
- Mental Retardation
Complex Disorders-Diseases of later life
- Rheumatoid arthritis
- Various cancers
- Epilepsy
- Multiple Scelrosis
- Insulin-dependent diabetis mellitus
- Peptic ulcer
- Ischaemic heart disease
- Hyperthyroidism
- Gallstones
- Migraine
- Asthma
Complex Disorders-Psychiatric disorders
- Manic Depression
- Alcoholism
- Schizophrenia
- Tourette’s syndrome
- Dyslexia
- Alzheimer’s disease
Turner’s Syndrome
45 chromosomes: X
Klinefelter’s Syndrome
47 chromosomes: XXY
Trisomy 21
Down’s Syndrome
Edward’s Syndrome
Trisomy 18
Mitochondrial Mutations
- Chronic progressive external opthalomoplegia (CPEO)
- Pearson’s Syndrome
- Neurogenic muscle weakness, ataxia and retinis pigmentosa
What is the USA’s name for their DNA banking system?
CODIS-Combined DNA Index System
What are the 3 ethical, legal and social concerns about DNA Databanking?
- Privacy
- Who is chosen for sampling
- Practicality
What is the difference between VNTR and STR?
Variable number of tandem repeats usually are composed of 15-70 base pairs and repeated 5-100 times
Short tandem repeats: only 2-4 nucleotides in length
Both used for DNA fingerprint-only identical twin is the same
What is DNA profiling?
A technique used by scientists to distinguish between individuals of the same species using only samples of their DNA
