Inheritance of Traits Pedigrees A pedigree is a diagram that shows how a trait is inherited over several generations o Squares stand for males and circles stand for females o A filled symbol means that person has the trait or condition o An empty symbol means that person does not have that trait or condition o A horizontal line joining a male and female indicates mating o A vertical line indicates offspring arranged from left to right in order of their birth Genetic Traits and Disorders Genetic disorders are diseases or disabling conditions that have a genetic basis Polygenic inheritance are traits that are influenced by several genes. Examples: o skin color is affected by 3-6 genes, o eye color o height o hair color Complex characters are traits that are influenced by both the environment and by genes Examples: o Skin color is affected the sun and genes o Height is affected by nutrition, sleep, disease , and genes Multiple Alleles - genes that have more than three alleles for a trait Examples: o Blood typing: ABO blood groups can lead to type A, type B, type AB, and type O bloods Adult humans have 4-6 liters of blood in the body Red blood cells o Contain hemoglobin, a protein that binds oxygen o They transport oxygen to the body tissues and remove carbon dioxide from them White blood cells fight infection Platelets help blood clot Plasma is the fluid that contains salts and protein and the red and white blood cells Incomplete dominance occurs when one allele is slightly dominant over another and the result is a phenotype in between the parents Example: Curly hair is dominant to straight hair and a cross between these two people would result in wavy hair X-linked traits are found on genes located only on the X chromosome A male inherits his X chromosome from his mother There are several X linked recessive disorders o Examples Colorblindness Muscular dystrophy Scaly skin Hemophilia Since it is a recessive disorder females would need to have 2 alleles for the disorder, but since males only have one X chromosome they will get the disorder if mom gives it to them. o Examples of hemophilia in males and females XHXH Mom would be normal XHXh Mom would be a carrier XhXh Mom has colorblindness XHY Dad is normal XhY Dad is colorblind Sex influenced traits Males and females can show different phenotypes even when they share the same genotype. Sex influenced traits are usually autosomal Example: Pattern baldness o It is an allele that is dominant in males but recessive in females o The difference is due to the high levels of testosterone in men and lower levels in women o The hormone interacts with the genotype to produce pattern baldness Single allele traits A single allele of a gene controls single allele traits. There are more than 200 human traits governed by single dominant alleles Huntington’s disease is an autosomal dominant condition characterized by forgetfulness and irritability o It develops when a person reaches 30-40 years of age o It progresses to muscle spasms, severe mental illness, and finally death within a few years. o o o Each affected person has at least one affected parent Unfortunately HD patients have already had children by the time their symptoms appear DNA testing can reveal the disorder and people are now getting tested if they know their parent had it. Detecting Genetic Disease Many people with a family history of genetic disease seek genetic screening before having children Examples of genetic screening include o Karyotypes provide pictures of the chromosome to show chromosome numbers and the ability to see if the chromosome is misshapen o Blood tests for certain proteins which are produced with different disorders o Direct DNA testing Amniocentesis allows physicians to remove some amniotic fluid from the amnion, the sac that surrounds the fetus between the 14th and 16th week of pregnancy. Geneticists can analyze fetal cells for genetic disease by examining chromosomes and proteins in the cell Chorionic villi sampling Physicians take samples of the chorionic villi, cells that grow between the mother’s uterus and the placenta…samples can be taken between the 8th and 10th week The test allows physicians to analyze fetal cells, chromosomes, proteins and detect genetic disease o Genetic Counseling is the process of informing a person or couple about their genetic makeup It informs individuals about problems that might affect their offspring It teaches families how to lower risk factors in their offspring, especially if there are environmental factors that can affect them Treating Genetic Disease Sometimes only the symptoms can be treated o Example: PKU is a genetic disease where the individual cannot process the amino acid phenylalanine Doctors test babies a few days after birth If the child has it they must eliminate phenylalanine from the diet If undetected it causes severe mental retardation Gene therapy involves replacing the defective gene o Sometimes they are able to do this by introducing the functional gene in a number of ways.