General

Human gene consortium

Aim was to provide working template for the human genome

Idea conceived in 1984, implemented in 1990
Funded by department of energy, united state s and national institute of  health (NIH)
Budget sanctioned was 3 billion US dollar, and time scale of 15yrs was decided

Apart from US, international consortium is formed by UK, france, australia, japan and china; which participated actively.

Procedure: shotgun approach used; DNA fragments of 1.5 kb formed, amplified  by cloning with bacterial vector.
Fragments are sequenced, and put together and  assembled in chromosome.

In this way first genome sequenced was chr 22,

In March 2000 draft of human sequence was announced jointly by bill Clinton and british PM Toby Blair. Further improvement of draft announced in 2003.

For evaluation , computational tolls also developed

Ataxia

1.Friedreich's ataxia

Symptoms  begin sometime between the ages of 5 to 15 years
Progressive neurological degeneration

symptoms of poor coordination such as gait disturbance,  scoliosis, heart disease and diabetes, but does not affect cognitive function
Genetics: gaa expansion in fxn gene
reduced expression of the mitochondrial protein frataxin