human+genetics+2+CC

Human Genetics 2 Homework 20.2c and 20.4 Define: carriers- heterozygous individual who doesn't have apparent symptoms but can passe on an allele for a recessively inherited gentic disorder autosomal recessive disorder- child affected, parent is not affected autosomal dominant disorder- child is effected and parents are affected autosomes- all chromosomes other than the two sex chromosomes sex chromosomes-chromosome that determines sex individual -female has XX and male has XY sex linked- sex chromosomes are sex linked X linked- an allele on an X chromosome X linked dominant- males pass the trait to daughters only X linked recessive-more males are affected than females

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) -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 -chloride ions don't pass through plasma membrane -channel protein in cells of patients -causes build up of mucous in bronchial tubes and pancreas -affects development of nervous system -lack enzyme needed for normal metabolism - red blood cells are not biconcave discs like they should be -bad circulation -caused by defect in connective tissue proteins neorological disorder caused by a mutated copy of the huntingin protein mix up colors, often reds, greens, browns, muscle deteriorates absence of protein- dystrophin unable to clot blood disease
 * Tay-sachs**- autosomal recessive disorder
 * Cystic Fibrosis**- autosomal recessive disorder
 * PKU-** autosomal recessive disorder
 * Sickle Cell Disease-** autosomal recessive disorder
 * Mafan Syndrome-** autosomal dominant disorder
 * Huntington Disease-**autosomal dominant disorder
 * Color blindness- X linked recessive**
 * Muscular dystrophy- x linked recessive**
 * Hemophilia- x linked recessive**