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51 Cards in this Set
- Front
- Back
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What are the six concepts/terms going over in this lecture? |
1.Genotypeand phenotype 2. Chromosomesand the karyotype 3. DNAand genes 4. Proteins 5. Cellreproduction 6. Mutations |
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Goes over Down's Syndrome |
characteristics, which are examples of PHENOTYPES |
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What is a phenotype? |
Observableproperties of an organism produced by the genotype and environmental influencesExamplesinclude: •Haircolour•Exectivefunction abilities•Short/tall•Lungcapacity•Psychiatriccondition•Skintone}8 |
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Where are chromosomes found? |
Inside the nucleus of the cells |
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How many chromosomes in each nucleus? |
46, arranged into 23 pairs (one from the mother and one from the father) |
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What do chromosomes look like? |
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What is a karyotype? |
the number and visual appearance of the chromosomes in the cell nuclei of an organism or species. |
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What is the Karyotype for males and females? |
46 XY male 46 XX female |
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What are the sex chromosome abnormalities? |
Down syndrom, Turner's syndrome Klinefelter's syndrome |
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how many men can Klinefelter's syndrome? |
1 in every 300 or so, and most don't realise they have it |
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What are characteristics of Klinefelter's syndrome? |
•XXY condition can affectdevelopment in three ways –Physicaldevelopment: weak muscles and reduced strength. Lagging in physicaldevelopment. –Languagedevelopment: Between 25 and 85% of XXY males have some language difficulties –Socialdevelopment: XXY males tend to be more quiet and undemanding compared with XYmales |
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What are examples of complimentary pairings in DNA? |
Adenine and Thymine Guanine and Cytosine |
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What are the four things that build up to make complementary pairings? |
2 - deoxyribose + Phosphate + Base = Nucleotide |
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What direction is DNA read in? (called a sequence) |
From the 5 prime end to the 3 prime end |
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What is the Locus when talking about DNA? |
•The locus is used to describe a sequence of DNAsituated on a specific region on a chromosome |
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What is DNA? |
•DNA is a double-stranded structureconsisting of 2 nucleotides held together by hydrogen bonds between the basesin opposing strands |
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What are genes? |
DNAmolecules organised into stretches |
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What are the two terms for DNA to impart information? |
transcription and translation |
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What is primarily involved in transcription and translation? |
DNAinformation can be copied to RNA for transcription and translation and carriedto other areas of the cell to create proteins (proteins are from summation of amino acids) |
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What are proteins? |
the end product of a gene expression |
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What are some protein types? |
•Enzymes•Hemoglobin•Insulin•Collagen•Keratin•Histones•Actin and myosin•Immunoglobulins |
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What is the difference between homozygous and heterozygous mean? |
If a mutation occurs in just one copy of the gene then that individual is considered heterozygous. On the other hand if both copies of a gene are mutated then that individual is homozygous genotype |
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What is the difference between the dominant allele and the recessive allele? |
Heterozygous = Bb Homozygous = BB or bb |
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What the difference between mitosis and meiosis? |
Meiosis has two rounds of genetic separation and cellular division whilemitosis only has one of each. In meiosis homologous chromosomes separate leading to daughter cells that are not genetically identical. In mitosis the daughter cells are identical to the parent as well as to each other |
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Some information about mutations. |
Necessary for not being a clone, for genetic variation Can also be a cause for cell death, genetic disease and cancer Driver for natural selection |
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What are the four main types of mutations? |
–Basesubstitutions –Deletionsof DNA –Insertionsof DNA –Wholeor partial chromosomal abnormalities |
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What is the difference between genotype and phenotype? |
The genotype of an organism is the genetic code in its cells. This genetic constitution of an individual influences – but is not solely responsible for – many of its traits. The phenotype is the visible or expressed trait, such as hair color. The phenotype depends upon the genotype but can also be influenced by environmental factors |
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What does part 2 lecture talk about? |
Genetictransmission of disorders Phenotypeand Genotype Epigenetics |
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What are some recessive gene disorders? |
PKU,sickle-cell anemia, Tay-Sachsdisease,cystic fibrosis |
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What are some single dominant gene disorders? |
–Huntington’sdisease, neurofibromatosis |
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What are some polygenic inheritance disorders? |
cancer,heart disease, asthma, psychiatric disorders,behaviordisorders |
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What are some sex'linked abnormalities? |
–male-patternbaldness, red-green color blindness, hemophilia, Duchennemuscular distrophy,fragile-X syndrome |
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What are some chromosomal abnormalites |
–: Down syndrome (trisomy 21),Kleinfelter syndrome (XXY),Turner syndrome (XO) |
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Regulator gene defects? |
–geneticmale with female genitalia |
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Unidentified (poorly understood) genetic basis? |
autismspectrum disorder (ASD), Attention Deficit Hyperactivity Disorder (ADHD) (mostlikely polygenic) |
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What is Tay-Sach disease? |
rare autosomal recessive genetic disorder that begins around 7 months of age and usually results in death by the age of four *found most concentrated in AshkenaziJewish population |
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What type of interventions are in place for people like the Ashkenazi jews do if they have this recessive genetic disease? |
Screening and –IVF,Donor gametes, adoption–Selectiveterminations–Child-free |
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What is Huntington's disease? |
is a neurodegenerative genetic disorder that affects muscle coordination and leads to mental decline and behavioral symptoms *too many repeats of the CAG trinucleotide incoding region of gene |
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Schizophrenia disorder? |
polygenetic gene dysfunction |
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Fragile - X syndrome? |
FXSis the most common inherited form of intellectual disability
also known as Martin-Bell syndrome, orEscalante's syndrome is a genetic syndrome. Nearly half of all children with fragile X syndrome meet the criteria for a diagnosis of autism. |
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What are the external factors that can affect the switching on and off of genes? |
•Regulator genes There is a continuous interactionbetween the environment and the genotype |
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What does the Range of Reaction refer to? |
toall the phenotypes that could theoretically result from a given genotype, givenall the environments in which it could survive and develop… |
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How can Range of Reaction relate to human development? |
•A child with a given genotype wouldprobably develop quite differently in a loving, supportive family compared withgrowing up in an alienated, abusive family |
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How can the genotype affect the phenotype? |
children with ADHD, will be less likely to get positive behaviours from adults, like beaming, cuddling etc, which will affect their development |
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What is Phenylketonuria? |
Childrenwith phenylketonuria(PKU) areunable to metabolize phenylalanine(found in meats, protein foods) = leads to mental retardation in life Withearly diagnosis and a properly restricted diet, however, mental retardationresulting from PKU can be avoided |
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What is epigenome? |
•record of the chemical changes tothe DNA and histone proteins of an organism |
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What do histones do? (first thing in epigenetics) |
turn genes on or off |
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What does DNA methylation do?(second thing in epigenetics) |
–Highmethylation means reduced access to transcription factors in the promoterregion –Low/absentmethylation results in accessibility and gene transcription |
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(third thing in epigenetics) what does Micro-RNA do? |
•Thisregulatory process is down-stream from transcription *New field, not much know |
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What id the developmental Origins hypothesis? |
•suggeststhat there is a link between adverse conditions in early development (inspecific windows of time) and the occurrence of disease later in life *sensitive key periods where a lot of change can occur from the environment (prenatally, childhood and puberty) |
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Autoimmunedisorders ? |
•Monozygotic twin studies often showdiscordance of these diseases, suggesting a role for environmental factorscontributing to disease development >
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