Be able to discuss the following issues on each disease: What is the disease, i.e. how is it transmitted, what mutations/genes involved, what is the cellular/molecular effect of the disease, and anything else relevant. The scope of answers to these questions will be different for each disease. Make a study guide.
Alpha-1 antitrypsin deficiency
Myotonic dystrophy
Heritable cancers
Alzheimer’s disease
Alcohol dependence
This list of words from the textbook is intended to be a set of words whose definition you should know, but you should also be able to discuss the context in which each concept was presented in the book.
Human genome
Gene
Base pairs
Haplotype
Allele/variant/polymorphism/mutation/SNP
Genetic marker
RFLP
Linkage disequilibrium
Genetic linkage
Synteny
Heritability
Complex disease
Single-gene/monogenic/simplex disease
Mendelian inheritance
Genetic risk
Molecular defect
Cellular defect
Molecular mechanism
Mutational mechanism
Genetic map
Physical map
Centimorgan
Recombination
Concordance
Single sequence DNA
Intermediate repeated DNA
Highly repetitive DNA
Microsatellite
Trinucleotide repeat expansion (TRE)
Coding sequence
Intron
Exon
Promoter
Heterozygote
Homozygote
Genetic testing
Gene therapy
Monozygotic twins
Dizygotic twins
LOD score
Recombinant fraction
Recessive
Dominant
Autosomal
Sex-linked
Nuclear
Mitochondrial
Chromosomal dislocation
Nondisjunction
Hardy-Weinberg equilibrium
Phylogeny
Pathology
Etiology
Oncogene
Tumor suppressor
Congenital
Heritable cancer
Retinoblastoma
Complex disease
Simple disease
Polygenic
Parametric model
Non-parametric model
LOD score
Relative risk
Threshold of liability
Additive
Multiplicative
Linkage
Association
Genome scan
Sib-pairs
Unaffected sib-pairs
Discordant sib-pairs
Identical by descent (IBD)
Identical by state (IBS)
Homozygous
Heterozygous
Microsatellite markers
DNA sequence
Restriction fragment length polymorphism (RFLP)
VNTR (variable number tandem repeat)
Polymerase chain reaction (PCR)
Significant P value (0.05)
Linkage disequilibrium
Multipoint mapping
Autoimmune disorders
Transmission disequilibrium tests
IDDM, Type I diabetes
NIDDM, Type 2 diabetes
Insulin locus (INS)
Antigens
Twin concordance
Alzheimer's disease
Alcohol dependence/abuse
ADH (alcohol dehydrogenase)
ALDH (aldehyde dehydrogenase)
Genotype
Haplotype
Candidate gene
Gene therapy - somatic and germ line
Gene replacement vs. gene addition
in vivo vs ex vivo
Transgene
Cell type
SCID (severe combined immunodeficiency) and ADA (adenosine deaminase)
Clinical improvement
Animal models
Retrovirus
Adenovirus (AV)
AAV (adeno-associated virus)
Lentivirus
Vector
Heteroduplex
Virion
Genetic testing
Large-scale deletion
Small-scale deletion
Promoter mutation
Splice site mutation
Coding sequence
Non-coding sequence
Amino acid change
Protein-truncating mutations
Base substitutions
Tissue for testing
8-cell embryo
Chorionic villous sampling
Amniocentesis
Blood cells
Buccal cells
Multiplex PCR
Single-stranded conformational polymorphisms (SSCP)
Denaturing gradient gel electrophoresis (DGGE)
Mismatch cleavage detection
Protein truncation test
DNA chips/microarrays
DNA sequencing
Chromosome tracking
Denaturing high-performance liquid chromatography (DHPLC)
Neonatal screening
Preimplantation screening
Genetic counseling
Human Genome Project
Human diversity
Eugenics
Presymptomatic testing for predisposition to complex disease
Presymptomatic testing for late-onset disease
Genetic discrimination