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10 Cards in this Set
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Define Genetics Hint: science, inherited, genetic material, variation |
Genetics is the science of how inherited information is passed on from one generation to the next using the genetic material of genes and DNA. It is the study of variation and inheritance. |
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3.1 Genes *Where are chromosomes found? *How many chromosomes does a human have? *What are chromosomes made up of? *What are genes? |
*Chromosomes are found in the nuclei of the cell *Humans have 46 chromosomes in 23 pairs *Chromosomes are made of very long DNA molecules *Genes are small sections of the chromosome, a gene is made up of DNA |
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How does a gene work? What is a gene's function? +How many genes does a human have? |
A gene is a heritable factor that consists of a length of DNA and influences a specific characteristic + humans have ~21 000 genes |
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Locus (pl. loci) |
The specific position on the chromosome which the gene occupy. |
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Alleles What are they? How do they differ? How are new formed? |
The various forms of a gene are called alleles. Alleles differ from each other only by one or a few bases. New alleles are formed by mutation. |
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Sickle cell anemia *What kind of mutation *What does the mutation do? |
*A base substitution mutation (when one base is replaced by another) in the sixth amino acid: *GAG glutamic acid -> GTG valine-> changes the haemoglobin polypeptide molecule-> red blood cells become sickle shaped |
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Sickle cell anemia Describe what effects the sickness have, both + and - |
-Sickle cell anemia causes the red blood cells to become sickle shaped, which makes them unable to carry oxygen efficiently and blocks the capilliaries causing swelling, pain, weakness, fatigue, shortness of breath and anemia +People with one sickle cell anemia allele and one normal allele are resistant towards malaria (heterozygous Hb^SHb^A) (Allele for sickle cell anemia are codominant) |
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Plasmodium |
Malaria parasite- invading the normal blood cell not the sickle shaped one |
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*Genome *The Human Genome Project (19xx-20xx) |
*The genome is the whole genetic information of an organism. *The entire base sequence of human genes was sequenced in the international cooperative venture The Human Genome Project (1993-2003) |
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3.2 Chromosomes |
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