Vocabulary and Graphic Organizers 7-3 Genetic Disorders Vocabulary and Graphic Organizers

Harmful mutations can cause genetic disorders The mutation will only be expressed if both parents pass on the recessive gene. A change in a gene. In some cases, genes are sometimes damaged or copied incorrectly. definition Mutation Most mutations are recessive and are not expressed in the heterozygous condition Harmful mutations can cause genetic disorders

Genetic disorder Harmful effects that are produced by mutations Sickle cell anemia definition Hemophilia Genetic disorder In most cases genetic disorders are recessive Down syndrome Cystic fibrosis

Cystic fibrosis Gene Therapy Recessive genetic disorder caused by a mutation in a gene that codes for a transport protein definition Researchers have located the gene that causes Cystic fibrosis. Cystic fibrosis Patients have trouble breathing and digesting their food In the homozygous condition – causes cells in respiratory and digestive systems to produce misshapen transport proteins Mucus forms in the lung and pancreas

Gene Therapy Healthy copy of the mutated gene is transferred into the lungs of cystic fibrosis patients definition This could be a potential cure in the near future The possibility is still in the stages of research

Sickle cell anemia Recessive gene disorder caused by mutation in the gene that codes for hemoglobin definition Heterozygous condition is resistant to Malaria Hemoglobin is the protein in red blood cells that moves oxygen throughout the body Causes low blood iron, fatigue, headaches, muscle cramps

Sex-linked inheritance Hemophilia Recessive genetic disorder caused by a mutation on the X chromosome Sex-linked inheritance definition Carried on the X chromosome. Women are carriers, while men will develop the disorder Causes the body to build a defective form of a protein needed to clot blood Small cuts are difficult to heal and internal bleeding could be fatal

Sex-linked inheritance Traits that are determined by genes located on the X chromosome definition

Down syndrome Arises from 3 copies of chromosome 21 definition Physical characteristics: Extra folds in upper eyelids, broad and flattened nose, thick tongue, and mental retardation Occurs in about 1 of every 1000 births

Genetic Counseling and Gene Therapy If one member of the family has a genetic disorder, it is possible that other members of the family have the recessive gene. Carrier Person who is heterozygous for recessive mutation. They are known as a carrier of the gene. Genetic Counseling definition

Kids – to have, or not to have A Genetic counselor will look for a pattern in the family history of genetic disorders to try and determine whether the client is at risk of having children with a genetic disorder pedigree Genetic Counseling A pedigree is a record that shows inheritance patterns over several generations definition