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In: Biology

The Human Genome Project's utility in identifying the disease-causing gene in albinism AND it's mode of...

The Human Genome Project's utility in identifying the disease-causing gene in albinism AND it's mode of inheritance

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Human Genome project was 13 year long project initiated in 1990 with the objective of determining the DNA sequence of the entire eukaryotic genome. It was an international scientific research project with the goal of researching DNA base pair that make up human DNA and mapping of the genes of the human genome.

A genome is an organism’s complete set of DNA including all of its gene. The sequencing of human genome hold benefit in the field of molecular medicine to evolution.

Albinism is a congenital disorder (birth effect) in human by the complete or partial absence of pigment in the skin, eyes, and hair.

It is result from the inheritance of recessive gene alleles and is known to affect all human. It is due to the absence or defect of the tyrosinase which is a copper containing enzyme which is associated with the production of melanin. A mutation in the human TRP-1 gene may result in the deregulation of melanocyte tyrosinase enzyme, a change that thought to promote brown versus black melanin synthesis resulting in third albinism genotype. Some other mutation also associated with albinism.

In national human genome research institute scientists found new region of the human genome that is associated with skin color that opened new avenue for research in skin disease.


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