The Human Genome Project and Genetic Disorders

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Luke Lyon
4/5/13
Biology
Research

Tay-Sachs disease is a rare inherited disorder that destroys nerve cells in the brain and in the spinal chord. The most common form of this disease actually becomes apparent in infancy. Affected infants lose motor skills such as crawling and sitting. Sadly, children with this severe form of Tay-Sachs usually live only into early childhood. Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common to the people of Ashkenazi (eastern and central Europe). Mutations in the HEXA gene cause Tay-Sachs. This disorder is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. So that means that the parents of an individual with the disease both carry a copy of the mutated gene but don’t show it.

Alkaptonuria is an inherited condition that causes urine to turn pitch black upon having contact with oxygen. Ochronosis is also a characteristic of this disorder. Ochronosis is the buildup of dark pigment in connective tissues such as cartilage and skin. People with Alkaptonuria typically develop arthritis beginning in early adulthood. Alkaptonuria is more common in certain areas of Slovakia and in the Dominican Republic. Mutations in the HGD gene cause this disorder. This condition is inherited exactly like Tay-Sachs. The parents of the individual with the disorder both have a copy of the mutated gene, but don’t necessarily show it. So, this condition is inherited in an autosomal recessive pattern.

The Human Genome Project was a project that took thirteen years of work coordinated by the U.S. Department of Energy and The National Institutes of Health. This project was completed in 2003. Its primary goals were to identify all of the approximately 20,000-25,000 genes in human DNA, determine the sequences of the 3 billion chemical base pairs that make up DNA, store this information in...
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