Chapter 7: Multifactorial Traits Lecture Guide Genes & the Environment • Few, if any genes act _____________________ • Environmental factors and other genes may _________________ the expression of certain genes • Traits can be described as either __________________ ________________________________ – Single gene traits- reflects the activities of _______ gene – Polygenic- reflects the activities of _____________ _________ gene • Both single genes and polygenic traits are considered to be _____________________________ due to having an interaction between their ______________ and the ___________________________ – Example- lung cancer – Can be caused by defective genes AND environmental factors such as smoking or pollution • Single gene traits are said to be discrete or qualitative in that the traits are either expressed or not expressed – Follows the “all or none” effect Polygenic Traits • Polygenic traits produce a continuously ________________ phenotype – Also called ________________________________ – DNA sequences involved are referred to as quantitative trait loci (QTLs) • Not many polygenic traits are purely polygenic due to environmental factors – Examples include – Height – Skin color – Body weight – Behavioral traits – Fingerprint patterns • Follow Mendelian laws but are more difficult to predict due to combined actions of genes and the environmental • The effect of genes is additive – The input of genes is not identical for all • The frequency of distribution of phenotypes forms a ________________________________________ Fingerprint Patterns • Skin on fingertips is folded into patterns of raised skin called _________________________ that form loops, whorls, and arches – Makes a _______________________ • • • The number of ridges is determined by genes and the environment – During weeks _____________ of prenatal development, ridges can be altered as the tips of the fingers and toes touch the amniotic sac ___________________________ can be used to compare the number of ridges that comprise these fingerprint patterns to identify and distinguish individuals – Is important in genetics because some genetic disorders have unusual ridge patterns Total ridge count can be used to quantify fingerprints – Males have 145 while females have 126 Height • Effect of the __________________________ on height is obvious due to the fact that people who do not eat enough do not reach their genetic potential for height • Studies have identified ______ genes that affect height • SNP patterns are also seen in individuals with periods of rapid height increase Skin Color • More than _______ genes affect pigmentation in skin, hair, and the irises of the eyes • Melanin pigments color the skin to different degrees in different individuals – Melanin produced by ______________________ which are packaged into _____________________ • Function of melanin is to protect again __________ _____________ from UV radiation while exposure to the sun increases melanin synthesis – All humans have the ________ number of melanocytes – the melanosome number, size, and density is what ___________ per person • Skin color is one physical trait that is used to distinguish ______________ – The definition of race based largely on skin color is a social construct more than a biological concept – In genetics, races are groups within ____________ that are distinguished by different _____________ ___________________________ • Skin color is NOT a reliable indicator of ancestry – 93% of varying inherited traits are no more common in people of one skin color than any other Body Weight • Is a multifactorial trait that reflects ________________ __________________ • 30% of all adults in the US are obese, and another 35% are overweight • • • Scientific studies use body mass index (BMI) to determine _______________________ – BMI= weight (kg)/ height 2 (m2) Lifestyle (diet and exercise) are environmental components that impact body weight Genes do influence hunger and metabolism – More than _________ genome regions have been found to harbor genes that affect how much we eat, how we use calories, and how fat is distributed in the body Investigating Multifactorial Traits • Using Mendel’s laws it is possible to predict the risk that a single gene trait will recur in a family from knowing its mode of inheritance • Predicting recurring risks for polygenic traits is more challenging than single gene traits Empiric Risk • To predict the chance of that a polygenic trait will occur, the ________________________ is determined – Is based on _________________________ – Is the rate at which a certain event occurs – Empiric risk __________________ with the severity of the disorder, the number of affected family members, and how closely related a person is to the affected individual – Is also based on _____________________ which is the proportion of individuals who have a particular trait at a specific time • An example of empiric risk lies with neural tube defect (NTD) – In the US, the empiric risk of carrying a fetus with NTD is 1:1000 – For England, Ireland, and Scotland the empiric risk is 3:1000 – The risk of recurrence increases to3% for all ethnic groups if one sibling already had NTD and increases even more if more than one sibling has it – Example- Cleft Lip Environmental Influences • _______________________ of traits does exist and are due in part to inborn differences within populations along with environmental influences Heritability • Heritability can estimate the proportion of the _________________________________ for a trait that is due to genetic differences in a certain population at a certain time – Heritability equals 1.0 for a trait whose variability is completely the result of gene action • Heritability is different from empiric risk in that empiric risk is due to _______________________ influences while heritability focuses on _____________________ influences • Heritability changes as the _______________________ changes – Example- skin color – Heritability can be higher or lower due to location • More melanin production= darker skin • Less melanin production= lighter skin • Researchers use several statistical methods to estimate heritability • One way is to compare the proportion of people sharing a trait to the proportion predicted to share the trait • The expected proportion is derived by knowing the __________________ relationships of the individuals along with the _________________________________ – Is the proportion of _______________ shared between two people related in a certain way Adopted Individuals • Similarities between adopted people and adopted parents reflect mostly __________________________ influences • Similarities between adoptees and their biological parents reflect mostly __________________________ influences • Therefore, information on both sets of parents can reveal how heredity and the environment both contribute to a trait Twins • Twin studies have largely replaced adoption methods • __________________________ measures the frequency of expression of a trait in both members of monozygotic (MZ) or dizygotic (DZ) twins – Twins who differ in a trait are said to be discordant for it • For a trait largely determined by genes, concordance is higher for MZ than DZ twins • Dizygotic twins = Shared environment and 50% of genes • Monozygotic twins = Identical genotype and shared environment • Twins raised apart = Shared genotype but not environment • Adopted individuals = Shared environment but not genes