Diseases,important genes, & ideogram

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2. Chromosomes are vital components of
eukaryotic or prokaryotic cells, in which an
entire genome is stored
carrying genetic information in the form of
genes.
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3. Chromosome 1 is the designation for the
largest human chromosome
Contains over 3000 genes
Contains over 240 million base pairs, of which
~90% have been determined
chromosome 1 is the most susceptible to
polymorphisms or mutations
present at least 1% of the general population
Polymorphisms can involve one or more base
pairs
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4. single nucleotides
single nucleotide polymorphisms (SNPs).
there are an estimated 740,000 SNPs
22 loci are polymorphic among the European
population.
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5. More than 350 diseases have been linked to
abnormalities in the sequence of chromosome
Brain degenerative diseases like Alzheimer's
disease,
Parkinson's disease
Collagen deficiency
Eye disorders such as Glaucoma
Hypothyroidism abnormally low activity of the
thyroid gland
1p36.22 deletion Syndrome
1q21.1 Microdeletion
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6. Short arm (p) of chromosome 1
NGF coding for nerve growth factor
ESPN coding for espin and deficiency leading to
autosomal recessive deafness 36
Long (q) arm of chromosome 1
The ASPM gene determine the brain size of an
individual.
GLCA1 for glaucoma, a condition affecting a
person's eyes.
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