THE HUMAN GENOME PROJECT. Presented by : Asma Mohammad Riaz Shahzad Iqbal Madiha Liaquat SagarZulfiqar Aisha Ijaz-ul-Haque Rozina razzaq Qamar -un- Nisa. Presented to : Sir Faiz-ul-Ameen. GENOME.
Presented by :
Asma Mohammad Riaz
Presented to : Sir Faiz-ul-Ameen
The genome is the entirety of an organism's hereditary information. It is encoded either in DNA or RNA.
(1) Complete a human genetic linkage map with about 2 Mb resolution (Mb = million base pairs).
(2) Complete a physical map of the human genome with 0.1 Mb resolution
(3) Acquire a complete set of overlapping clones covering the entire genome
(4) Determine the complete sequence of the human genome
(5) Identify all of the genes in the human genome
Approaches in (marfan syndrome)
Identification of a gene that is mutated in marfan syndrome
Identification of genes coding for proteins known to function
in various types of connective tissue.
Is a genetically-inherited disorder in which the nerve tissue grows tumors (i.e., neurofibromas)
and mapped on chromosome 15.
RFLP studies verified a linkage
between the inheritance of Marfan syndrome
and markers on chromosome 15.
Cloning of the fibrillin gene from individuals with Marfan syndrome
then verified the substitution of a proline for arginine
at position 239 in the protein
Gene was localized
sequencing studies that showed mutations in individuals
afflicted with the disease.
chromosome walking was undertaken
until a candidate gene was encountered.
Verification, involved in disease or not
An autosomal dominant progressive neuro-degenerative genetic disorder
pedigree of the family covered seven generations, with the disease apparently traced back to a settler of European origin
The G8 probe identifies a complex RFLP pattern in DNA cut with Hind III
1- a 15.0 kb fragment vs. a 17.5 kb fragment
2- a 4.9 kb fragment vs. fragments of 1.2 and 3.7 kb
IDENTIFICATION OF HD GENE
-----short arm of chromosome 4 at 4p16.3
-----a sequence of three DNA bases—cytosine-adenine-guanine (CAG)—
repeated multiple times (i.e. ... CAGCAGCAG ...), known as
a trinucleotide repeat.
-----CAG is the genetic code for the amino acid glutamine,
-----a polyglutamine tract (or polyQ tract), and the repeated part of
the gene, the PolyQ region.
Genes and are caused by the length of a repeated section of a gene exceeding a normal range.genomes (mining thegenomes)
Computationalanalysis of genomes
GENOMIC MAPPING are caused by the length of a repeated section of a gene exceeding a normal range.
THE LINKAGE MAP
STS and ESTs
complete sequence information
mutations can be noted
Albuterol for asthma
In nature’s infinite book of secrecy are caused by the length of a repeated section of a gene exceeding a normal range.
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