1. Behavioural genetics: |
Twin and family studies |
Measured genetic variants |
Quasi-experimental designs |
Genetic influences on behaviour |
Nature of environmental influence |
Nature of genetic influence |
Psychiatric genetics |
2. Cytogenetics: |
Karyotyping |
Banding technique |
Comparative genome hybridization |
FISH (fluorescent in situ hybridization) |
3. Epigenetics: |
Molecular basis |
DNA damage |
Techniques used to study epigenetics |
ChIP-on-chip and ChIP-Seq) |
Fluorescent in situ hybridization |
Methylation-sensitive restriction enzymes |
DNA adenine methyltransferase identification (DamID) |
Bisulfite sequencing |
Mechanisms |
Covalent modifications |
RNA transcripts |
MicroRNAs |
mRNA |
sRNAs |
Prions |
Structural inheritance |
Nucleosome positioning |
Functions and consequences |
Development |
Transgenerational |
Epigenetics and epigenetic drugs |
Neurodegenerative diseases of motor neurons |
Amyotrophic lateral sclerosis (ALS) |
Spinal Muscular Atrophy (SMA) |
Neurodegenerative Diseases of the Central Nervous System |
Alzheimer's Disease (AD) |
Huntington's Disease (HD) |
Parkinson's Disease (PD) |
4. Molecular genetics: |
Molecular basis for inheritance |
DNA and chromosomes |
Reproduction |
Recombination and genetic linkage |
Gene expression |
Genetic code |
Gene regulation |
Genetic change |
Mutations |
Natural selection and evolution |
Medicine |
Research methods |
DNA sequencing and genomics |
Genetic testing: |
Cell-free fetal DNA |
Newborn screening |
Diagnostic testing |
Carrier testing: |
Preimplantation genetic diagnosis |
Prenatal diagnosis |
Predictive and presymptomatic testing |
Pharmacogenomics |
Non-diagnostic testing: |
Forensic testing |
Paternity testing |
Genealogical DNA test |
Research testing |
5. Genomics |
Genome analysis |
Sequencing |
Shotgun sequencing |
High-throughput sequencing |
Assembly |
Assembly approaches |
Finishing |
Annotation |
Sequencing pipelines and databases |
Functional genomics |
Structural genomics |
Epigenomics |
Metagenomics |
Pharmacogenomics |
Drug-metabolizing enzymes |
Predictive prescribing |
Polypharmacy |
Drug labeling |
6. Human mitochondrial genetics: |
Mitochondrial genes |
Replication, repair, transcription and translation |
Mitochondrial disease |
7. Medical genetics: |
Types of genetic disorder: |
Single-gene |
Autosomal dominant |
Autosomal recessive |
X-linked dominant |
X-linked recessive |
Y-linked |
Mitochondrial |
Causes of genetic disorder |
Diagnosis |
Treatment / gene therapy |
List of genetic disorder: |
1p36 deletion syndrome |
18p deletion syndrome |
21-hydroxylase deficiency |
Alpha 1-antitrypsin deficiency |
AAA syndrome (achalasia-addisonianism-alacrima) |
Aarskog– Scott syndrome |
ABCD syndrome |
Aceruloplasminemia |
Acheiropodia |
Achondrogenesis type II |
Achondroplasia |
Acute intermittent porphyria |
Adenylosuccinate lyase deficiency |
Adrenoleukodystrophy |
Alagille syndrome |
Adult syndrome |
Albinism |
Alexander disease |
Alkaptonuria |
Alport syndrome |
Alternating hemiplegia of childhood |
Amyotrophic lateral sclerosis |
Alström syndrome |
Alzheimer's disease |
Amelogenesis imperfecta |
Aminolevulinic acid dehydratase deficiency porphyria |
Androgen insensitivity syndrome |
Angelman syndrome |
Apert Syndrome |
Arthrogryposis–renal dysfunction–cholestasis syndrome |
Ataxia telangiectasia |
Axenfeld syndrome |
Beare-Stevenson cutis gyrata syndrome |
Beckwith–Wiedemann syndrome |
Benjamin syndrome |
Biotinidase deficiency |
Björnstad syndrome |
Bloom syndrome |
Birt–Hogg–Dubé syndrome |
Brody myopathy |
Cadasil syndrome |
Carasil syndrome |
Chronic granulomatous disorder |
Campomelic dysplasia |
Canavan disease |
Carpenter Syndrome |
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (SEDNIK) |
Cystic fibrosis |
Charcot–Marie–Tooth disease |
CHARGE syndrome |
Chédiak–Higashi syndrome |
Cleidocranial dysostosis |
Cockayne syndrome |
Coffin–Lowry syndrome |
Cohen syndrome |
Collagenopathy, types II and XI |
Congenital insensitivity to pain with anhidrosis (CIPA) |
Cowden syndrome |
CPO deficiency (coproporphyria) |
Cranio–lenticulo–sutural dysplasia |
Cri du chat |
Crohn's disease |
Crouzon syndrome |
Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans) |
Darier's disease |
Dent's disease (Genetic hypercalciuria) |
Denys–Drash syndrome |
De Grouchy syndrome |
Di George's syndrome |
Distal hereditary motor neuropathies, multiple types |
Ehlers–Danlos syndrome |
Emery–Dreifuss syndrome |
Erythropoietic protoporphyria |
Fanconi anemia (FA) |
Fabry disease |
Factor V Leiden thrombophilia |
Familial adenomatous polyposis |
Familial dysautonomia |
Feingold syndrome |
FG syndrome |
Friedreich's ataxia |
G6PD deficiency |
Galactosemia |
Gaucher disease |
Gillespie syndrome |
Griscelli syndrome |
Hailey-Hailey disease |
Harlequin type ichthyosis |
Hemochromatosis, hereditary |
Hemophilia |
Hepatoerythropoietic porphyria UROD |
Hereditary coproporphyria |
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) |
Hereditary Inclusion Body Myopathy |
Hereditary multiple exostoses |
Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis) |
Hermansky–Pudlak syndrome |
Hereditary neuropathy with liability to pressure palsies (HNPP) |
Homocystinuria |
Huntington's disease |
Hunter syndrome |
Hurler syndrome |
Hutchinson-Gilford progeria syndrome |
Hyperoxaluria, primary |
Hyperphenylalaninemia |
Hypoalphalipoproteinemia (Tangier disease) |
Hypochondrogenesis |
Hypochondroplasia |
Immunodeficiency, centromere instability and facial anomalies syndrome (ICF syndrome) |
Incontinentia pigmenti |
Isodicentric 15 |
Jackson– Weiss syndrome |
Joubert syndrome |
Juvenile Primary Lateral Sclerosis (JPLS) |
Keloid disorder |
Kniest dysplasia |
Kosaki overgrowth syndrome |
Krabbe disease |
Kufor–Rakeb syndrome |
LCAT deficiency |
Lesch-Nyhan syndrome) |
Li-Fraumeni syndrome |
Lynch Syndrome |
Lipoprotein lipase deficiency, familial |
Marfan syndrome |
Maroteaux–Lamy syndrome |
McCune–Albright syndrome |
McLeod syndrome |
MEDNIK syndrome |
Mediterranean fever, familial |
Menkes disease |
Methemoglobinemia |
methylmalonic acidemia |
Micro syndrome |
Microcephaly |
Morquio syndrome |
Mowat-Wilson syndrome |
Muenke syndrome |
Multiple endocrine neoplasia (type 1 and type 2) |
Muscular dystrophy |
Muscular dystrophy, Duchenne and Becker type |
Myostatin-related muscle hypertrophy |
myotonic dystrophy |
Natowicz syndrome |
Neurofibromatosis type I |
Neurofibromatosis type II |
Niemann–Pick disease |
Nonketotic hyperglycinemia |
nonsyndromic deafness |
Noonan syndrome |
Ogden syndrome |
osteogenesis imperfecta |
Pantothenate kinase-associated neurodegeneration |
Patau Syndrome (Trisomy 13) |
PCC deficiency (propionic acidemia) |
Porphyria cutanea tarda (PCT) |
Pendred syndrome |
Peutz-Jeghers syndrome |
Pfeiffer syndrome |
phenylketonuria |
Pitt–Hopkins syndrome |
Polycystic kidney disease |
Polycystic Ovarian Syndrome (PCOS) |
porphyria |
Prader-Willi syndrome |
Primary ciliary dyskinesia (PCD) |
primary pulmonary hypertension |
protein C deficiency |
protein S deficiency |
Pseudo-Gaucher disease |
Pseudoxanthoma elasticum |
Retinitis pigmentosa |
Rett syndrome |
Rubinstein-Taybi syndrome (RSTS) |
Sandhoff disease |
Sanfilippo syndrome |
Schwartz–Jampel syndrome |
spondyloepiphyseal dysplasia congenita (SED) |
Shprintzen–Goldberg syndrome FBN1 |
sickle cell anemia |
Siderius X-linked mental retardation syndrome |
Sideroblastic anemia |
Sly syndrome |
Smith-Lemli-Opitz syndrome |
Smith Magenis Syndrome |
Spinal muscular atrophy |
Spinocerebellar ataxia (types 1-29) |
SSB syndrome (SADDAN) |
Stargardt disease (macular degeneration) |
Stickler syndrome |
Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type) |
Tay-Sachs disease |
tetrahydrobiopterin deficiency |
thanatophoric dysplasia |
Treacher Collins syndrome |
Tuberous Sclerosis Complex (TSC) |
Turner syndrome |
Usher syndrome |
Variegate porphyria |
von Hippel-Lindau disease |
Waardenburg syndrome |
Weissenbacher-Zweymüller syndrome |
Williams Syndrome |
Wilson disease |
Woodhouse–Sakati syndrome |
Wolf–Hirschhorn syndrome |
Xeroderma pigmentosum |
X-linked mental retardation and macroorchidism (fragile X syndrome) |
X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) |
Xp11.22 deletion |
X-linked severe combined immunodeficiency (X-SCID) |
X-linked sideroblastic anemia (XLSA) |
47,XXX (triple X syndrome) |
XXXX syndrome (48, XXXX) |
XXXXX syndrome (49, XXXXX) |
XYY syndrome (47,XYY) |
8. Population genetics |
Modern synthesis |
Four processes |
Selection |
Dominance |
Epistasis |
Mutation |
Genetic drift |
Gene flow |
Horizontal gene transfer |
Linkage |
Applications |
Explaining levels of genetic variation |
Detecting selection |
Demographic inference |
Evolution of genetic systems |
Quantitative genetics |
Genetic epidemiology |
Statistical genetics |
9. Genetic counseling |