Genetic Disorders Flashcards
Give 2 examples of chromosomal disorders.
Acquired + Structural:
Chronic Myeloid Leukemia (CML)
Constitutional + Numerical:
Down Syndrome
Give 5 examples of autosomal recessive disorders.
1) α-thalassemia
2) ß-thalassemia
3) Spinal muscular atrophy
4) Cystic fibrosis
5) Phenylketonuria (PKU)
Give 10 examples of autosomal dominant disorders.
1) Familial hypercholesterolemia
2) Neurofibromatosis type 1 (NF-1)
3) Familial adenomatous polyposis (FAP)
4) Achondroplasia
5) Osteogenesis imperfecta
6) Polycystic kidney disease
7) Tuberous kidney disease
8) Huntington chorea
9) Myotonic dystrophy
10) Multiple Endocrine Neoplasia 1 (MEN1)
Give 4 examples of X-linked recessive disorders.
1) Red green colour deficiency
2) G6PD deficiency
3) Duchenne Muscular Dystrophy (DMD)
4) Haemophilia A
Give 2 examples of X-linked dominant disorders.
1) Incontinentia pigmenti
2) X-linked hypophosphatemic rickets
Give an example of a Y-linked disorder.
Deletion of q arm → infertility
Give 5 examples of Mitochondrial disorders.
Nuclear genome:
1) SURF1 → Leigh’s syndrome (AR)
2) ANT1 → facioscapulohumeral muscular dystrophy (FSHD) (AD)
3) TIMM8 → Mohr-Tranebjaerg syndrome (XLR)
Mitochondrial genome:
4) MELAS (Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like episodes)
5) MERRF (Myoclonic Epilepsy with Ragged Red Fibers)
Give 2 examples of genetic disorders caused by genomic imprinting.
1) Prader Willi syndrome
2) Angelman syndrome
Give an example of a disorder that is caused by dynamic mutations?
Trinucleotide repeat disorders
Give 4 examples of multifactorial/complex genetic disorders.
1) Cancer
2) Type 2 Diabetes mellitus
3) Cardiovascular disease
4) Hypercholesterolemia
What are the 6 genetic tests covered in Singapore’s Expanded Newborn Screening Programme?
1) Cystic Fibrosis
2) Congenital Adrenal Hyperplasia
3) Severe Combined Immune Deficiency
4) Galactosemia
5) Biotinidase deficiency
6) Inborn errors of Metabolism (>30 disorders)
What is the inheritance pattern of CML?
None, mutation acquired somatically
- Ph chromosome t(9,22)
What is the inheritance pattern of Down Syndrome?
None, mutation occurs in gametogenesis
What is the inheritance pattern of α/ß Thalassemia?
AR
What is the inheritance pattern of Spinal Muscular Atrophy?
AR
What is the inheritance pattern of Cystic Fibrosis?
AR
What is the inheritance pattern of Phenylketonuria?
AR
What is the inheritance pattern of Familial Hypercholesterolemia?
AD
