Ch. 3 Genetics/Behavioral Genetics

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