Реферат

Реферат на тему Molecular Basis Of Albinism Mutations And Polymorphisms

Работа добавлена на сайт bukvasha.net: 2015-06-02

Поможем написать учебную работу

Если у вас возникли сложности с курсовой, контрольной, дипломной, рефератом, отчетом по практике, научно-исследовательской и любой другой работой - мы готовы помочь.

Предоплата всего

от 25%

Подписываем

договор

Выберите тип работы:

Скидка 25% при заказе до 11.11.2024


Molecular Basis Of Albinism: Mutations And Polymorphisms Of Pigmentation Genes Associated With Albinism. Essay, Research Paper

Title

Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

Abstract

Albinism, caused by a deficiency of melanin pigment in the skin, hair, and eye (oculocutaneous albinism [OCA]), or primarily in the eye (ocular albinism [OA]), results from mutations in genes involved in the biosynthesis of melanin pigment. The lack of melanin pigment in the developing eye leads to fovea hypoplasia and abnormal routing of the optic nerves. These changes are responsible for the nystagmus, strabismus, and reduced visual acuity common to all types of albinism. Mutations in six genes have been reported to be responsible for different types of oculocutaneous and ocular albinism, including the tyrosinase gene (TYR) and OCA1, the OCA2 gene and OCA2, the tyrosinase-related protein-1 gene (TYRP1) and OCA3, the HPS gene and Hermansky-Pudlak syndrome, the CHS gene (CHS1), and Chediak-Higashi syndrome, and the X-linked ocular albinism gene and OA1. The function of only two of the gene products is known tyrosinase and tyrosinase-related protein-1 both of which are enzymes in the melanin biosynthetic pathway. Continued mutational analysis coupled with function/structure studies should aid our understanding of the function of the remaining genes and their role in albinism.

Hum Mutat, 13(2):99-115 1999


1. Реферат на тему Тема Родины и революции в поэзии С Есенина
2. Лекция на тему Розрахунок природної вентиляції
3. Статья Полынь божье дерево и полынь-эстрагон
4. Реферат на тему Реклама в индустрии туризма
5. Реферат Экономико-статистический анализ финансового состояния
6. Реферат Причины и задачи революции
7. Реферат на тему Паевые инвестиционные фонды в России
8. Реферат Понятие мифа
9. Реферат на тему Gender As A Socially Constructed Accomplishment Essay
10. Реферат на тему Stoker And Rice