Lesson 1 - Genetics Terminologies

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GENETICS & INHERITANCE Genome Wide Arrays (GWA)

● Naming all 3 billion genome pairings


TERMINOLOGIES ● Reading of genetic make up
Genome ● Probability of diseases you might
● Sum total of all of an organism’s have in the future
DNA
● All 3 billion base pairs PARTS OF CHROMOSOMES
Genetics Genes
● Study of genes and their ● Each autosome carries same genes
transmission from one generation to at the locus
the next ● Both genes have same structure and
Inheritance function
● Passing of genes from one ● Specific sequences -> specific
generation to next generation amino acid -> specific protein
Genes Alleles
● DNA sequences that contain ● More specific characteristic
instruction for building proteins ● Alternative versions of the same
Genotype gene pair (variant)
● Genes are located in the ● Arise from mutation
chromosomes ● Gene: hair color; Allele from Dad:
● Humans: 46 chromosomes, 23 pairs blonde; Allele from Mom: black
● Autosomes (Body cells) Gene locus (loci)
○ First 22 pairs ● Location of specific gene pair
● Allosome (Sex chromosomes) ● Q arm (long arm) or ​P arm (short
○ Last 1 pair arm)
○ XX for F, XY for M ● “Chromosome marker”
Karyotype ● More than one allele can be found
● Visual display or representation of all on a single locus but not the other
chromosomes lined up side by size way around
● Identify and evaluate the size shape
and total number of chromosomes What does the yellow
● Identify if chromosome defect is color represent?
present in a fetus and its cause - GENES
● Identify mutations or alterations What does the red box
(extra pair, missing pair, deletion) represent?
- ALLELES
What trait does it
express?
- BLUE EYES
What is gene locus?
- Q ARM
DOMINANT V.S. RECESSIVE TYPES OF TRAITS
Homologous chromosomes Dominant Trait/Allele
● One member of each pair is ● Masks or suppresses expression of
inherited from each parent its complementary allele
● Look alike (size, shape, banding ● Always expressed even if
pattern) heterozygous
● Have same genes at the same locus ● Not always more common than
but have different alleles recessive
● Pair up because: ● May be rare in a population
○ They code for the same Recessive Trait/Allele
genes or rather their locus ● Will not be expressed if paired with
fits perfectly together dominant allele or heterozygous
● Will only be expressed if
TYPES OF ALLELES homozygous for recessive allele
Homozygous
● Two identical alleles at particular GENOTYPE V.S. PHENOTYPE
locus Genotype
● Homozygous Dominant (DD, RR) ● Complete set of alleles
● Homozygous Recessive (dd, rr) ● Blueprint to be coded and expressed
Heterozygous to physical characteristics
● Two different alleles at particular Phenotype
locus ● Observable physical and functional
● Dominant + Recessive (Dd, Rr) traits
Hemizygous ● Based on the genotype
● Special case alleles found in ● Can also be influenced by
sex-linked traits environmental factors
● Common in men because of a
shorter 46th chromosome
● Only one allele is present

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