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What is a gene?
segment of DNA
What is DNA, chromosome, genotype, phenotype?
DNA = nucleic acid with genetic information
chromosome = has proteins and DNA
genotype = genetic makeup that contributes to phenotype
phenotype = physical look
What is an example of a dominant disorder?
Huntington’s disease CNV increase severity
What are 2 recessive examples?
blue eyes
PKU allele
What is polygenetic inheritance?
one phenotype for multiple genes
What chromosomal disorder is a common cause of intellectual disability?
Trisomy 21
What are SNPs and CNVs?
SNPs (Single Nucleotide Polymorphisms): These are variations at a single position in a DNA sequence among individuals. They can affect how genes function and contribute to individual differences in traits and disease susceptibility.
CNVs (Copy Number Variants): These are segments of DNA that vary in copy number between individuals. They can involve duplications or deletions of sections of the genome and may influence gene expression and contribute to genetic diversity.
What disorder is an example of CNV?
Hunington’’s Disease
Define what epigenetics does
shows how the environment affects how the gene is read
affects whether or not gene is read
What are the mechanisms of methylation?
turns gene off, hard to read
What is histone acetylation?
turns gene on, easy to read
What is deacetylation?
explains how your environment affects your genes
Differentiate monozygotic and dizygotic
monozygotic = identical
dizygotic = 2 eggs, 2 sperms fraternal
What is a proband?
person that has disease
What is the family method (genetics)?
genetic relatedness/probands
What is the linkage method?
locate specific genes
What is the genetic relatedness of an individual to his parents, grandparents, siblings?
parents = 50%
grandparents = 25%
siblings = 50%
Who was the person responsible for doing this research that took almost 20 years?
Nancy Wexler
