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Complex Diseases Summary ( Genomics)
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Complex diseases:caused mainly by obesity type 2 diabetes/ parkinson’s diseases and neurological diseases.
How does the environment function the gene by causing the molecular basis of the
environment that influences the gene such as gene expression and protein modification(
histone), such as methylation and acetylation, where non-coding RNA has a functional role
such as gene expression.
Turner syndrome( 45, X)
● affects 1 in 50,000 of the live female births, caused by the near absence of the X
chromosome of the many features as well as congenital heart disease, lack of
characteristics.
Individuals with Turner syndrome
● Caused by the near or complete absence of the X chromosome
● Effects 1/50, 000 of live female births, caused by the near absence of the X
chromosome as well as heart disease and lack of characteristics
● Lymphedema
● Heart disease
● Kidney disease
● Infertility
CIS regulatory sequences(regions of non-coding DNA)
● Found in promoters, enhancers, silencers and insulators
● Regulates the transcription of the nearby genes- Thalassaemia, haemophilia and
atherosclerosis
trans cis regulatory sequences
- Modifies the expression of the distant genes that combine the target sequences.
- Key is to control and recruit the transcription factor.
Chromatin looping
Stretches the genomic sequences that lie on the same chromosomes that are closer to the
physical proximity of the sequence. Important as they intervene in the sequences that
regulate the gene expression through the transcriptional activation.
,Encode Project:
● Identifies the regulatory regions and contribute the maps of RNA
● The function of the encode identifies the non-coding regions mapping of the
transcriptional factor.
Is the genome junk?
● 80% of genomes are linked to the biochemical function.
● Junk DNA is the controversial concept as it states that organisms carry the genomes
dna that has a positive impact on fitness.
Regulome - Part of the ENCODE
● Annotates the human genome( non-coding RNAS and pseudogenes)
● Structure of the chromatin- encodes the transcriptional factor by binding and building
up the proteins.
DNAse I hypersensitive site mapping plays an important role in expressing the genes
such as DNA repair genes. DNAse I hypersensitive are ergonomic regions that are
accessible for enzymatic cleavage.
, Transcriptional factors
● Comes from Encode
● Examines the writing of the transcriptional factor network
● Promoters show the three regions of the DNA of the proteins that bind the
transcription of the gene that produces the RNA molecule( RNA) that works together
with other DNA regions as well as enhancers.
What is a promoter?
● Promoter is the region of the sequence where the transcription has shown to be
responsible for its initiation.
● The promoters are a sequence of the DNA that binds and initiates the transcription of
the transcript of the RNA.
90% of the SNPs (also known as single nucleotide are associated with the human disease,
as the genome wide association of the human diseases. It has shown that the majority of the
genes are associated with the mutated gene.
How do you identify the mechanisms of a new disease? By understanding the principles
of the chromatin and epigenome.
GWAS
● Links various DNA sequences and helps with specific traits of diseases where
thousands of DNA associates those complex traits.
● Links various sequences that help with specific traits or diseases.
● binds the modification of the history that predicts the expression of the gene.
Normal Karyotype
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