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30 Cards in this Set
- Front
- Back
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Phenotypes |
the observable, physical characteristics - produced by the genotype and environmental influences e.g Down's syndrome - hair colour, executive function abilities, short, tall, psychiatric condition etc |
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Every human cell in the body except_____ has nucleus |
Red blood cells |
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Each cell has a nucleus, and each nucleus contains how many chromosomes? |
46 chromosomes arranged in 23 pairs - a chromosome in each pair comes from each parent |
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Chromosomes are filled with... |
tightly coiled strands of DNA |
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Genes are... |
segments of the DNA which contain the instructions to make proteins |
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Proteins are... |
the building blocks of life. |
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Chromosomes |
Consist of chromatin (threadlike) |
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Chromatin is made up of |
nucleic acids (DNA and RNA) and proteins |
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Chromosomes are only visible during... |
cell division processes (mitosis and Meiosis) - otherwise they unfold and uncoil into a diffuse network within the nucleus |
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Most cells contain 46 chromosomes |
23 sets - one from mother and one from father in each pair |
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Each chromosome pair... |
carries same type of genes - matching in size, shape and functions |
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Gametes (sex cells) contain how many chromosomes? |
Sperm/egg cells contain 23 chromosomes each |
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What is a Karyotype? |
Description of the chromosomal content of a cell: - total count of chromosomes - description of the sex chromosomes Each parent contributes 23 chromosomes to the child Autosomes (non-sex chromosomes) are numbered 1-22 Sex chromosomes are either X or Y |
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Females have |
two copies of the X chromosome |
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Males have |
X and Y |
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X chromosome |
typically larger than Y - has more genetic information |
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Kinds of Karyotype include... |
- Male 46, XY - Female 46, XX -Male Down's Syndrome 47, XY + extra copy of chromosome 21 -Female Down's Syndrome 47, XX + chromosome 21 - Turner's syndrome (appear female) *Klinefelter's syndrome |
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Down Syndrome |
extra copy of chromosome 21 thus 47 instead of 46 chromosomes 1/1000 babies most common genetic abnormality |
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Klinefelter's syndrome (XXY) - only affect males |
Males have extra X chromosome 3 ways it can affect dev: 1) Physical - weaker muscles, reduced strength, sterility 2) Language 25-85% will have language difficulties 3) Social - males are more quiet, undemanding |
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Turner Syndrome |
affects females - short - infertility - don't go through puberty |
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What are the four bases of DNA? |
A- Adenine T- Thymine G- Guanine C-Cytosine |
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What are the based pairings? |
A+T G+C |
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What binds base pairings? |
phospate |
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Primary structure of DNA is described by... |
order of bases in 5-3 direction
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DNA are 'anti-parallel strands' because... |
a double stranded structure consisting of 2 nucleotides held together by hydrogen bonds between bases in OPPOSING strands. |
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Nucleotides are... |
base+sugar+phosphate group |
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What is the LOCUS? |
a sequence of DNA situated on specific region of the chromosome |
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Genes are... |
sequences of DNA molecules (instructions for making proteins) |
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What are the protein types? |
Enzymes Hemoglobin (blood) Insulin (pancreas) Collagen (skin) Keratin (hair) Histones - package and order DNA into Nucleosomes Actin and myosin Immunoglobulins |
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Alleles |
forms of genes |
