The following is a list of terms which the student need be familiar with for the Human Genetics lectures and exams; please use your texts and other reference materials for definitions.
- acrocentric
- allele
- allelic disorders
- Alu repetitive sequence
- amplification
- annealing
- aneuploidy
- anticipation
- antisense strand (of DNA)
- autosome
- bacteriophage(phage)
- band (chromosomal)
- base pair (bp)
- base sequence
- breakpoint
- CCAAT box
- Caenorhabditis elegans (C. elegans)
- cDNA
- DNA
- centimorgan (cM)
- centromere
- chimera
- chromatid
- chromatin
- chromosome
- cloning vector
- codon
- compound heterozygote
- congenital
- consanguinity
- conserved sequence
- contiguous gene syndrome
- cosmid
- CpG islands
- CVS
- degeneracy (of the genetic code)
- deletion
- de novo
- derivative chromosome
- diploidy
- DNA marker
- DNA methylation
- DNA sequence
- dominant mutations
- double minute chromosome
- dysmorphology
- electrophoresis
- euchromatin
- euploidy
- exons
- fluorescence In situ hybridization (FISH)
- fragile site
- fragment
- frameshift mutation
- Giemsa banding (G-banding)
- gamete
- gene
- gene targeting
- genetic locus
- genome
- genomic DNA
- genomic library
- genotype
- germ cell
- germ line mosaicism
- gonadal mosaicism
- haploidy
- heterochromatin
- heterozygosity
- histones
- homeobox domain
- homeobox (HOX) genes
- homologies
- homologous chromosomes
- homologous recombination
- homozygosity
- housekeeping genes
- Human Genome Initiative (Project)
- hybridization
- idiogram
- imprinting
- initiation codon
- insert
- insertion
- interphase
- intervening sequences
- introns
- inversion
- isochromosome
- karyotype
- kilobase
- kinetochore
- knockout
- library
- linkage
- locus
- Lod score
- megabase (Mr)
- meiosis
- messenger RNA (mRNA)
- metacentric
- methylation
- microsatellites
- minisatellites
- missense mutation
- mitochondrial DNA
- mitosis
- monosomy
- mosaicism
- mutation
- nick translation
- nondisjunction
- nonsense mutation
- northern blot
- nucleosome
- nucleotide
- oligonucleotide
- oncogene
- open reading frame
- paracentric
- pax (genes)
- penetrance
- pericentric
- phenotype
- physical map
- plasmid
- ploidy
- polygenic
- polymerase chain reaction (PCR)
- polymorphism
- positional cloning
- premutation
- primary transcript
- primer
- proband
- probe
- promoter
- proto-oncogene
- pseudogene
- recessive mutations
- reciprocal translocation
- recombinant DNA molecules
- recombination
- restriction enzyme restriction endonuclease
- restriction fragment length polymorphism (RFLP)
- restriction map
- restriction site
- reverse transcriptase
- RNA polymerase
- sequence
- sequencing
- sequencing gel analysis
- somatic hybrid
- somatic cells
- Southern blot (hybridization)
- splicing
- synteny
- tandem repeat sequences
- telomeres
- teratology
- transfection
- transcript
- transcription
- transgenic
- translation
- translocation
- triploidy
- trisomy
- uniparental disomy
- unique sequence DNA
- variable number tandem repeat (VNTR)
- X-inactivation
- YAC
- zygote
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