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Human Inheritance ABO Blood Groups and Genetic Disorders Slide #2 Important Vocabulary 1. Carrier: someone who is heterozygous for a trait 2. Multiple alleles: traits that have more than 2 possible alleles; still only inherit 2 alleles 3. Co-dominance: when two different alleles are present and BOTH alleles are expressed. 4. Mutation: a change in an organism’s DNA; changes how a gene functions a. leads to 2 or more alleles for a given trait Slide #3 Variations in Alleles 1. Variations in traits arise from mutations 2. Many mutations produce genes that don’t function a. most of these mutations produce non-functioning proteins b. non functioning proteins can cause lethal genetic defects c. sometimes mutations produce proteins that have different functions Slide # 4 ABO Blood Groups 1. Multiple alleles a. 3 different alleles; IA, IB, & i b. 6 genotypes / 4 phenotypes IA IA or IA i = Type A IB IB or IB i = Type B IA IB = Type AB ii = Type O 2. IA and IB are co-dominant; both are expressed if both are present Slide # 6 Guide to who can give and who can receive in donating blood Genetic Disorders are caused by defective genes. Defective genes arise from mutations in DNA. Slide # 7 Cystic Fibrosis 1. Mode of inheritance a. recessive allele on chromosome # 7 2. Symptoms: a. thick mucus forms in lungs & digestive tract b. Affected people have trouble breathing; contract lung infections easily c. Affected people live to be about 30 years old 1 in 25 Caucasians in US are carriers 1 in 2500 are affected Slide # 8 Sickle-Cell Anemia 1. Mode of inheritance a. recessive allele on chromosome # 11 2. Symptoms a. blood cells become sickle shaped; don’t carry oxygen b. sickle shaped cells clog blood vessels & cause pain & swelling c. Affected persons live to be about 50 3. Carriers are resistant to malaria Normal blood cells live 120 days Sickleshaped blood cells live 10-20 days 8 to 10% African Americans are carriers Slide # 9 Tay Sachs 1. Mode of Inheritance a. recessive allele on chromosome # 15 2. Symptoms a. Fatty substance builds up in nerve cells in brain b. Gradual paralysis & loss of nerve function c. Affected children die by age 4 or 5 3. Carriers resistant to tuberculosis 11% of Jewish population are carriers Also common in French-Canadians & Cajuns Slide # 10 PKU 1. Mode of Inheritance a. recessive allele on chromosome # 12 2. Symptoms a. body does not break down phenylalanine b. high level of phenylalanine interferes with nervous system development; leads to mental retardation c. Easily treated by following strict diet d. all newborns tested for PKU Foods farthest away from the target must be avoided. Slide # 11 Huntington’s Disorder 1. Mode of inheritance a. dominant allele on chromosome #4 2. Symptoms a. brain cells slowly break down; causes jerking muscles, slurred speech, difficulty swallowing, loss of balance, reasoning & memory loss, & eventually death b. Symptoms usually begin at 3545 years of age Sex-linked traits: Genes located on the sex chromosomes. Slide # 13 Important Vocabulary 1. Autosome: a regular body chromosome (# 1 - 22) 2. Sex chromosome: chromosome that determines the sex of an individual; X & Y a. XX = female b. XY = male c. The sex chromosomes are # 23 Slide # 14 Sex Linked Traits 1. Sex-linked trait: A trait that is determined by a gene found on one of the sex chromosomes. 2. Occur more often in males because males only receive one X chromosome (one copy of the gene). 3. Fathers pass the X chromosome on to daughters only. 4. Mothers pass an X chromosome on to sons and daughters. 5. Females must receive 2 copies of the defective gene to show the trait. Slide # 15 Hemophilia 1. Mode of inheritance a. recessive allele on X chromosome 2. Main Symptom a. blood fails to clot properly b. may bleed internally – especially at the knees and elbows Hemophilia can be traced through a pedigree of the royal family. Slide # 16 Color-blindness 1. Mode of Inheritance a. recessive allele on X chromosome 2. Symptoms a. inability to distinguish red and green colors b. Normal life span