Ch.1 Intro to Genetics Flashcards
Who discovered the ABO blood group?
Francis Galton
Describe DNA structure
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
What is genetics?
study of general mechanisms of heredity and the variation of inherited traits. Science of human biological variation
What is genomics?
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
What is the genome?
set of genes every human has.
All human cells contain 2 sets of every gene in a human cell.
What is Proteomics?
how proteomes interaction interact with one another. Study of the whole proteins produced.
What is a Proteome?
the complete set of all proteins that a person makes at a given time under certain conditions. Recipe of gene sequences of proteins.
What is a Gene?
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
What is a protein?
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
What is a chromosome?
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)
What is a mutation?
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
What is a autosome?
Non-sex chromosome
22 pairs of chromosomes
What is a sex chromosome?
chromosome that contains the genes determining sex
XX or Xy
23rd chromosome
What is a karyotype?
The chromosome constitution of an individual.
What is a Genotype?
an individual’s genetic constitution
What is Phenotype?
Physical expression of the genotype
What are alleles?
Genes encoding a particular trait that reside on corresponding locations on paired chromosomes
-one from each parent
What are somatic cells?
cells other than sperm and egg cells.
Somatic cells are Diploid cells, because they have two of each chromosome
What are gametes or germline cells?
Gametes: Sperm and egg cells
Gametes are haploid, because they have only one of each chromosome
Describe Mitosis
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)
Describe Meiosis
Meiosis is the division of sex cells (gametes) which results in 4 daughter cells; these have genetic variation and haploid
What is gene sequencing?
The variation in order of complimentary nitrogen bases with hydrogen bonds. The order of bases codes for proteins produced.
Describe DNA replication
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
Describe DNA enzymes:
1. Helicase
2. Primase
3. DNA polymerase
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.
