Ch.1 Intro to Genetics

Question 1

Who discovered the ABO blood group?

Answer 1

Francis Galton

Question 2

Describe DNA structure

Answer 2

​

In the nucleus of each cell
Deoxynucleic acid.

DNA nitrogen bases include: (A) Adenine, (C) Cytosine, (G) Guanine, (T) Thymine​

Complementary pairing – PYrimidine – Cytosine & Thymine (Y)​
always pairs with …
Purine – Adenine & Guanine (no Y)​
DNA backbone =
Nucleoside -Combined with deoxyribose sugar attachment

Nucleotide - Phosphate group addition to above attachment

Question 3

What is genetics?

Answer 3

study of general mechanisms of heredity and the variation of inherited traits. Science of human biological variation

Question 4

What is genomics?

Answer 4

the study of the function of all the nucleotide sequences present with the entire genome of a species. Broader term, looking at the whole genome​

Question 5

What is the genome?

Answer 5

set of genes every human has.
All human cells contain 2 sets of every gene in a human cell.

Question 6

What is Proteomics?

Answer 6

how proteomes interaction interact with one another. Study of the whole proteins produced.

Question 7

What is a Proteome?

Answer 7

the complete set of all proteins that a person makes at a given time under certain conditions. Recipe of gene sequences of proteins.

Question 8

What is a Gene?

Answer 8

A specific pattern of genetic material (gene sequences) that provides a blueprint for assembly of a specific protein. ​

Each gene is the recipe for a protein, genes in a specific order spell out the recipe for a protein​
- Proteome: gene sequences that program these instructions​

Question 9

What is a protein?

Answer 9

one or more long chains of amino acids, all chemical messengers in our body are proteins. Proteins determine cellular function.​

 20 different amino acids. Proteins are made with these in different combinations​

Question 10

What is a chromosome?

Answer 10

Located in the nucleus. Made of double strand of DNA wrapped around histone proteins​

May be condensed (during cell replication) or relaxed inside nucleus (chromatin)

Question 11

What is a mutation?

Answer 11

A change in the sequence of DNA​ or RNA. Mutations can produce either gain of function or loss of function​

Mutation may affect germline cells (cells that produce gametes) or somatic cells. ​
- Somatic mutations: cannot be passed to offsprings. Mutation of developing body cell; linked to cancer​

• Germline (sex-linked) mutations: are passed to offspring

Question 12

What is a autosome?

Answer 12

Non-sex chromosome​
22 pairs of chromosomes

Question 13

What is a sex chromosome?

Answer 13

chromosome that contains the genes determining sex
XX or Xy
23rd chromosome

Question 14

What is a karyotype?

Answer 14

The chromosome constitution of an individual.​

Question 15

What is a Genotype?

Answer 15

an individual’s genetic constitution

Question 16

What is Phenotype?

Answer 16

Physical expression of the genotype

Question 17

What are alleles?

Answer 17

Genes encoding a particular trait that reside on corresponding locations on paired chromosomes​
-one from each parent

Question 18

What are somatic cells?

Answer 18

cells other than sperm and egg cells. ​

Somatic cells are Diploid cells, because they have two of each chromosome​

Question 19

What are gametes or germline cells?

Answer 19

Gametes: Sperm and egg cells​

Gametes are haploid, because they have only one of each chromosome

Question 20

Describe Mitosis

Answer 20

Mitosis is the division of cells to produce 2 daughter cells​
It is how we produce new cells throughout our body. Daughter cells are exactly like the mother cell (diploid)

Question 21

Describe Meiosis

Answer 21

Meiosis is the division of sex cells (gametes) which results in 4 daughter cells; these have genetic variation and haploid

Question 22

What is gene sequencing?

Answer 22

The variation in order of complimentary nitrogen bases with hydrogen bonds. The order of bases codes for proteins produced.

Question 23

Describe DNA replication

Answer 23

The nucleotide chains separate by unwinding​.
The point at which the chains separate is called the replication fork​.
Separated by enzymes.
Each change serves as a template for a new nucleotide change​.
Lagging strand gets copied in chunks

Question 24

Describe DNA enzymes:
1. Helicase
2. Primase
3. DNA polymerase

Answer 24

Helicase- unzipping enzyme​

Primase - replicating enzyme after unzipping​

DNA polymerase – bonds to primer, can only add in one direction from 5 to 3 prime ends​
- DNA polymerase also performs part of a proofreading procedure in which a newly added nucleotide is checked to make certain that it is, in fact, complementary to the template base. If not it is excised and replaced with a correct complementary nucleotide base.

Question 25

Eukaryote vs prokaryote

Answer 25

Eukaryote - DNA is enclosed in nucleus. ex. human cells
Prokaryote - DNA is not enclosed in nucleus. ex, E.Coli

Question 26

RNA

Answer 26

Ribonucleic acid​

Carries genetic information from DNA in the nucleus to the cytoplasm where it can be used to produce proteins​
- Proteins are made in the ribsomes in the cell ​
- Proteins are all the chemical messengers our bodies make, through RNA leaving cell for DNA replication and transcription

Transcription: process which makes RNA

Question 27

Describe the 3 types of RNA

Answer 27

1. Messenger RNA: carries genetic information from the DNA in the nucleus to the cytoplasm of the cell​
2. Transfer RNA binds to specific amino acids​
3. Ribosomal RNA makes up the ribosomes where proteins are made​

Question 28

What is a gene segment?

Answer 28

A gene is a segment of a DNA molecule containing the code for the amino acid sequence of a polypeptide chain and the regulatory sequences necessary for expression

Only 5% of the 3 billion nucleotide pairs in the human genome actually encode proteins. Most of our genetic material has no known function.

Question 29

What is a codon?

Answer 29

Genetic information for making proteins in encoded in series of 3 messenger RNA nucleotides

• Each codon codes for a specific amino acid​

Composition and order of amino acids in a protein determine the structure and function of the protein​

Question 30

What are Introns?

Answer 30

Form the major portion of most genes, they are noncoding regions and much is unknown of their function.

Introns are spliced out of mRNA before it leaves the nucleus ​(they never leave nucleus)

Question 31

What is a gene exon?

Answer 31

The specific coding material that makes proteins
mRNA is made of exon segments after splicing out of introns

Question 32

Describe gene expression

Answer 32

Gene expression is the activation of the gene in different parts of the body.
- Gene expression is important because not all cells in the body express every gene!
- In most cells, only a small proportion of genes are actively transcribed.
-tissue specific