Genetics+2+KR

=Human Genetics 2=

Keaton Rye
//Describe diseases (You will need to know how they are inherited ie X-linked recessive or autosomal dominant. You will also need to know the gene that is mutated and what damage that causes to the body)//


 * Tay-sachs**- autosomal recessive disorder
 * comes from lack of hexosaminidase A and lack of storage of its substrate in lysosomes
 * development starts slow
 * child can become blind, helpless, paralyzed and seizures
 * Cystic Fibrosis**- autosomal recessive disorder
 * -hloride ions don't pass through plasma membrane
 * channel protein in cells of patients
 * causes build up of mucous in bronchial tubes and pancreas
 * PKU-** autosomal recessive disorder
 * affects development of nervous system
 * ack enzyme needed for normal metabolism
 * Sickle Cell Disease-** autosomal recessive disorder
 * red blood cells are not biconcave discs like they should be
 * bad circulation
 * Mafan Syndrome-** autosomal dominant disorder
 * caused by defect in connective tissue proteins
 * Huntington Disease-**autosomal dominant disorder
 * neorological disorder
 * caused by a mutated copy of the huntingin protein
 * Color blindness- X linked recessive**
 * mix up colors
 * Muscular dystrophy- x linked recessive**
 * muscle deteriorates
 * absence of protein- dystrophin
 * Hemophilia- x linked recessive**
 * blood unable form clots
 * blood disease