BIO 111 LEC9

What does DNA sequencing determine?

The order and total number of nucleotide bases in particular DNA molecules.

What is believed to make up much of the non-protein coding DNA?

Regulatory elements.

What are anonymous markers?

Genetic markers with no phenotypic effect, that are highly variable in DNA.

What do Variable Nucleotide Tandem Repeats (VNTRs) refer to?

Stretches of DNA that have variable numbers of repeated sequences.

What is Huntington's disease characterized by?

A dominant neurodegenerative disorder with symptoms like muscle jerking and cognitive impairment.

What is the average age of onset for Huntington's disease?

40 years.

What defines a Single Nucleotide Polymorphism (SNP)?

A one base difference between individuals in their DNA.

How many SNPs have been identified in the population?

7 million SNPs identified.

What is the goal of genome-wide association studies (GWAS)?

To associate genomic variants with the expression of diseases or traits.

What is Autism Spectrum Disorder (ASD)?

A developmental disability caused by a neurological disorder affecting communication, social skills, and reasoning.

What percentage of individuals with ASD have impaired cognitive capacity?

About 2/3 of individuals with disorder.

What did Beadle and Tatum's experiment focus on regarding Neurospora?

The synthesis of arginine and the impact of mutations.

What does the Central Dogma of Molecular Biology describe?

The flow of genetic information within a biological system: DNA -> RNA -> Protein.

What is the significance of codons in the genetic code?

Codons are sequences of three bases that specify amino acids in proteins.

Who proposed the logic behind the number of bases needed to specify amino acids?

George Gamow.

What is a polypeptide?

A chain of amino acids covalently bonded together by peptide bonds.

What are auxotrophs?

Mutants that cannot make a certain nutrient and require an external source for growth.

What is the link between Huntington's disease and the genetic marker identified in 1983?

The genetic marker linked to Huntington disease was identified on chromosome 14.

What role does reverse transcription play in the updated Central Dogma?

It allows the synthesis of complementary DNA from RNA, particularly in retroviruses.

What are some characteristics of ASD?

Abnormal development of communication skills, social skills, reasoning; stronger in males.

What is the role of SNPs in disease studies?

They allow genome-wide association studies (GWAS) to identify genetic links to conditions.

What is a haplotype?

A shared stretch of DNA on chromosomes not involved in recombination.

What is one major finding from the Autism Speaks Genome Project?

Over 134 autism-linked genes have been identified.

What is the purpose of gene therapy?

Gene therapy aims to treat or prevent diseases by altering the genes inside a patient's cells.

What are epigenetic modifications?

Epigenetic modifications are heritable changes in gene expression that do not involve changes to the underlying DNA sequence.

What were the findings of the first round of analyses on 600 genomes released in August 2016 (Yuen et al.)?

The majority of DNA changes were found in non-protein coding regions.

How are most new (de novo) mutations inherited according to the findings from the 600 genomes?

Most new mutations are inherited from the father and increase with paternal age.

What is the pattern of new mutations inherited from mothers as found in the studies?

New mutations inherited from mothers tend to be clustered and include copy number variants.

When do some mutations arise according to the genomic findings?

Some mutations arose in embryos shortly after fertilization, possibly influenced by environmental factors.

What percentage of mutations involve epigenetic changes as per the findings from the 600 genomes?

Approximately 1% of mutations involve epigenetic changes.