chromosome
made of DNA and protein; contains genes
Chromatid
half of a replicated chromosome
Gene
heritable factors that control specific characteristics
Allele
different forms of a specific gene
gene locus
specific position of a gene on a chromosome
+where on a chromosome gene is located
-all individuals carry the same genes at the same loci on he same chromosomes
State the components of a chromosome
DNa and protein
state the number of chromosomes present in a single human diploid cell
46/23 pairs; haploid is half of diploid
(haploid is only found in gametes)
alleles of a gene vary only slightly from each other, but can produce very different characteristics. Complete the table by using your general knowledge state two examples of genes and the possible alleles shown for each.
Gene= Pea Plant height Possible alleles=tall and short
Gene=Human blood type
Possible alleles=A,B, and O
Although the genetic code is universal , what varies greatly?
the number of genes of held by different species
-Humans: 22,333
- a plant: 30,434
-A bacterium: 4,149
-an organism that possesses more genes than humans: plants
-an organism that possesses less genes than humans: bird
state the definition of a genome
: the entire genetic material of an organism
-consists of DNA
-includes both coding and noncoding sequences
The Human Genome project was an international 13-year effort, 1990 to 2003. State it's primary goals:
1) determine all human genes
2) Determine human DNA base sequence
Key to the success of the Human Genome Project was the use of gene sequencers. List the key advances in tech. that made their use possible
-Biotechnology techniques such as PCR are used to prepare samples: the DNA needs to be copied to prepare a sufficiently large pure samples to sequences
-computers automate the sequencing process
-fluorescent labeling techniques enable all 4 nucleotide to
distinguih between the two DNA strands above in terms of: a) DNA base sequence
b) Amino acid sequence in the resulting polypeptide
the 2nd codon in each base sequence is different, causing a different base sequence to appear on the anti-sense and ultimately the proteins
b) The 2nd amino acid in both sequences were different. This is because RNA sequences that had a different 2nd codo
mutations an sometimes result in new alleles
a) state the definintoin of a mutation
permanent change in the base sequence of DNA
a base substitution mutation is a particular type of mutation. Distinguish between mutations in general and base substitutions mutations.
mutation- changes in the structure of a gene
one base is substituted for another
-sometimes base substitutions can be a silent mutation; if one letter is changed it can still code for the same amino acid (degenerate -one codon can code for many amino acid
Outline how a base substitution mutation can result in a new allele
Missense mutation-the change in base sequence has caused one different amino acid to be produced (e.g. sickle cell)
Nonsense mutation-the change in base sequence has caused a STOP codon to be produced, so the polypeptide is shortened.
Describe the effects of sickle cell disease on sufferers in terms of: Haemoblogin production
B) Symptoms and mortality
-haemoglobin production is abornomal, which leads to abnormal red blood cells
-Function of haemoglobin is to carry oxygen to all parts of our body
b) abnormal red blood cells
-stick, stiffed, and curved
-patients have an increased chance of infections, st
Some people inherit both a normal allele (Hb A) and a sickle cell (HB S) allele. Such people do show very few symptoms of sickle cell disease.
a) identify parts of the world this genotype could be beneficial
a) countries close to the equator
b) individuals with one or two copies of sickle cell cannot be infected with malaria
-lots of misquotes in countries near the equator that cause malaria
-those with sickle cell care more likely to survive and reproduce, p
State 2 benefits and 2 concerns about human genome project.
Is this project going to benefit our lives int eh 21st century?
Benefits: Molecular medicine-improves diagnosis of disease
DNA identification- identify potential suspects whose DNA may match the DNA left at the crime scene
Concerns: concerns about the privacy and confidentiality of genetic info
-clinical issues dealin
chromosome
made of DNA and protein; contains genes
Chromatid
half of a replicated chromosome
Gene
heritable factors that control specific characteristics
Allele
different forms of a specific gene
gene locus
specific position of a gene on a chromosome
+where on a chromosome gene is located
-all individuals carry the same genes at the same loci on he same chromosomes
State the components of a chromosome
DNa and protein
state the number of chromosomes present in a single human diploid cell
46/23 pairs; haploid is half of diploid
(haploid is only found in gametes)
alleles of a gene vary only slightly from each other, but can produce very different characteristics. Complete the table by using your general knowledge state two examples of genes and the possible alleles shown for each.
Gene= Pea Plant height Possible alleles=tall and short
Gene=Human blood type
Possible alleles=A,B, and O
Although the genetic code is universal , what varies greatly?
the number of genes of held by different species
-Humans: 22,333
- a plant: 30,434
-A bacterium: 4,149
-an organism that possesses more genes than humans: plants
-an organism that possesses less genes than humans: bird
state the definition of a genome
: the entire genetic material of an organism
-consists of DNA
-includes both coding and noncoding sequences
The Human Genome project was an international 13-year effort, 1990 to 2003. State it's primary goals:
1) determine all human genes
2) Determine human DNA base sequence
Key to the success of the Human Genome Project was the use of gene sequencers. List the key advances in tech. that made their use possible
-Biotechnology techniques such as PCR are used to prepare samples: the DNA needs to be copied to prepare a sufficiently large pure samples to sequences
-computers automate the sequencing process
-fluorescent labeling techniques enable all 4 nucleotide to
distinguih between the two DNA strands above in terms of: a) DNA base sequence
b) Amino acid sequence in the resulting polypeptide
the 2nd codon in each base sequence is different, causing a different base sequence to appear on the anti-sense and ultimately the proteins
b) The 2nd amino acid in both sequences were different. This is because RNA sequences that had a different 2nd codo
mutations an sometimes result in new alleles
a) state the definintoin of a mutation
permanent change in the base sequence of DNA
a base substitution mutation is a particular type of mutation. Distinguish between mutations in general and base substitutions mutations.
mutation- changes in the structure of a gene
one base is substituted for another
-sometimes base substitutions can be a silent mutation; if one letter is changed it can still code for the same amino acid (degenerate -one codon can code for many amino acid
Outline how a base substitution mutation can result in a new allele
Missense mutation-the change in base sequence has caused one different amino acid to be produced (e.g. sickle cell)
Nonsense mutation-the change in base sequence has caused a STOP codon to be produced, so the polypeptide is shortened.
Describe the effects of sickle cell disease on sufferers in terms of: Haemoblogin production
B) Symptoms and mortality
-haemoglobin production is abornomal, which leads to abnormal red blood cells
-Function of haemoglobin is to carry oxygen to all parts of our body
b) abnormal red blood cells
-stick, stiffed, and curved
-patients have an increased chance of infections, st
Some people inherit both a normal allele (Hb A) and a sickle cell (HB S) allele. Such people do show very few symptoms of sickle cell disease.
a) identify parts of the world this genotype could be beneficial
a) countries close to the equator
b) individuals with one or two copies of sickle cell cannot be infected with malaria
-lots of misquotes in countries near the equator that cause malaria
-those with sickle cell care more likely to survive and reproduce, p
State 2 benefits and 2 concerns about human genome project.
Is this project going to benefit our lives int eh 21st century?
Benefits: Molecular medicine-improves diagnosis of disease
DNA identification- identify potential suspects whose DNA may match the DNA left at the crime scene
Concerns: concerns about the privacy and confidentiality of genetic info
-clinical issues dealin