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2 Heredity and Environment Chapter 2 Copyright © 2010 Pearson Education, Inc. All rights reserved. Heredity and Environment • Molecular Genetics • Genes, Chromosomes, and Cell Division • Genetic and Chromosomal Disorders • Behavior Genetics • Environmental Influences and Contexts • Environment in a Broader Context: Family and Culture Copyright © 2010 Pearson Education, Inc. All rights reserved. Molecular Genetics • Genetic instructions are found in the DNA molecules found in the nucleus of each cell • DNA is a complex molecule made up of nucleotides and four different bases. • The bases form base pairs that should not vary • The basic units of inheritance are genes, which are delineated pieces of DNA. • There are about 25,000 genes in the human body Copyright © 2010 Pearson Education, Inc. All rights reserved. A Cell of the Human Body SOURCE: Figure “A bodily cell,” In M. R. Cummings (Ed.), Human heredity: Principles and issues (4th ed., p. 16). Pacific Grove, CA: Books/Cole. Copyright ゥ 1997. Reprinted with permission of Wadsworth, an imprint of the Wadsworth Group, a division of Thomson Learning. Fax 800-730-2215. Copyright © 2010 Pearson Education, Inc. All rights reserved. Computer Simulated DNA Molecule Copyright © 2010 Pearson Education, Inc. All rights reserved. Segment of DNA Visualized as a Ladder Copyright © 2010 Pearson Education, Inc. All rights reserved. Protein Synthesis • The most significant thing genes do is build proteins • Proteins are the molecules that control life • Over 200,000 different proteins have been identified in humans Copyright © 2010 Pearson Education, Inc. All rights reserved. Copyright © 2010 Pearson Education, Inc. All rights reserved. Genes, Chromosomes, and Cell Division • When a cell divides, the DNA assembles into chromosomes • Chromosomes are chains of genes that can be observed directly • All cells except sperm and egg cells contain 23 pairs of chromosomes • The first 22 of those pairs are matching, and are referred to as autosomes • The 23rd pair determines sex selection and is labeled XX in females and XY in males • One’s chromosomal makeup can be visualized in karyotypes Copyright © 2010 Pearson Education, Inc. All rights reserved. Human Karyotypes Copyright © 2010 Pearson Education, Inc. All rights reserved. Cell Division and Reproduction • Cells divide in a process called mitosis, which creates two cells with identical sets of chromosomes • Meiosis is the cell division process that produces ova and sperm, each of which contain one half of the full set of chromosomes • The genotype refers to the genes an individual inherits • Genes, like chromosomes, exist in pairs, each half of which is an allele Copyright © 2010 Pearson Education, Inc. All rights reserved. Comparison of Mitosis and Meiosis Copyright © 2010 Pearson Education, Inc. All rights reserved. From Genotype to Phenotype • All of a person’s pairs of alleles form the person’s genotype, or genetic code • Some alleles are dominant over others, for instance the allele for brown eyes • Others are recessive, such as the allele for blue eyes • Two recessive alleles are needed to express a recessive trait • But it only takes one dominant allele for a dominant trait to be expressed Copyright © 2010 Pearson Education, Inc. All rights reserved. Examples of Dominant-Recessive Gene Combinations Copyright © 2010 Pearson Education, Inc. All rights reserved. Genetic Inheritance • Nearly all human characteristics are polygenic: determined by more than one gene pair • Some traits are sex-linked, usually passed on by the X chromosome – Since men have only one “X,” they are at risk for traits associated with the X chromosome • Genetic mutations may occur during mitosis or meiosis, when the DNA molecule is altered during cell division • Mutations may be beneficial or detrimental Copyright © 2010 Pearson Education, Inc. All rights reserved. Genetic and Chromosomal Disorders • About 3% are born with congenital anomalies, or birth defects • Genetic anomalies involve problems with the instructional mechanism of the genetic process • Sex-linked disorders can occur when the gametes do not replicate correctly or when genetic information, even entire chromosomes, are missing or duplicated Copyright © 2010 Pearson Education, Inc. All rights reserved. Some Sex-Linked Disorders • Color blindness, X-linked • Chromosomal • Fragile X syndrome • Klinefelter syndrome (XXY, XXXY, XXXXY) • Superfemale syndrome (XXX, XXXX, XXXXX) • Supermale syndrome (XYY, XYYY, XYYYY) • Turner Syndrome (OX) Copyright © 2010 Pearson Education, Inc. All rights reserved. Autosomal Disorders • • • • • • • • • Genetic (recessive or dominant alleles) Angelman syndrome Cystic Fibrosis Huntington’s Disease PKU Sickle-cell trait Tay-Sachs Chromosomal (an extra chromosome) Down syndrome Copyright © 2010 Pearson Education, Inc. All rights reserved. Genetic Research • Uses recombinant DNA technology to reconstruct cells and genes • Gene therapies involve reinserting geneticallyaltered cells into a person – Used to produce a variety of proteins, such as insulin • In vivo gene therapy removes some viral genes, inserts cloned normal genes, and retrovirus is reintroduced to patient Copyright © 2010 Pearson Education, Inc. All rights reserved. Video Clip Description of different types of genetic testing: http://www.youtube.com/watch?v=dJuo937gz44 Copyright © 2010 Pearson Education, Inc. All rights reserved. Video Clip BBC documentary on Designer Babies with commentary by Princeton professor Lee Silver: http://www.youtube.com/watch?v=TN9ep4B9Hw0& feature=PlayList&p=C7E239A945F4C4BA&playne xt=1&playnext_from=PL&index=56 Copyright © 2010 Pearson Education, Inc. All rights reserved. Behavior Genetics • Behavior genetics tries to understand the genetic origins of behaviors • Incorporates the view that complex traits are determined by an interaction of heredity and environment • Behavioral genetics looks at the statistical correlation, or concordance, of similar characteristics with genes • Concordance rates form the basis of estimates of heritability, the proportion of a trait that is thought to result from genetic factors Copyright © 2010 Pearson Education, Inc. All rights reserved. Behavior Genetics Studies • Adoption Studies – Studies how adopted children resemble their adoptive versus their biological parents • Twin Studies – Compares identical twins for traits thought to be heritable – Hard to interpret because no twin’s environment is identical, even within same home Copyright © 2010 Pearson Education, Inc. All rights reserved. Environmental Influences and Contexts • Basic Processes that Affect Behavior – Habituation – Classical Conditioning – Operant Conditioning – Social Learning Copyright © 2010 Pearson Education, Inc. All rights reserved. A Typical Classical Conditioning Procedure Copyright © 2010 Pearson Education, Inc. All rights reserved. Operant Conditioning • Reinforcers increase the likelihood that a behavior will be repeated – Example: A child is given a delicious cookie after saying “please” and becomes more likely to say “please” in the future. • Punishments decrease the probability that a behavior will be repeated – Example: A child who misbehaves is scolded and becomes less likely to misbehave in the future Copyright © 2010 Pearson Education, Inc. All rights reserved. Family and Culture • Family systems are at the heart of human behavior • Siblings share many similar experiences, but nonshared experiences and relationships also exist • Families pay a critical role in orienting him or her to society and culture • It is important to avoid ethnocentrism, the tendency to assume that our own beliefs, customs, and values are normal and others are abnormal Copyright © 2010 Pearson Education, Inc. All rights reserved. Copyright © 2010 Pearson Education, Inc. All rights reserved. Sociocultural Influences • Cultural factors affect a cohort, a group of individuals born during the same historical era • There different types of cultural influences: • Normative age-graded: biological and social changes • Normative history-graded: historical events such as wars, depressions, and epidemics • Non-normative: individual factors such as divorce, unemployment, illness, career changes Copyright © 2010 Pearson Education, Inc. All rights reserved. A Lifespan Profile on Influences Copyright © 2010 Pearson Education, Inc. All rights reserved. Development in a Broad Context • Lifespan development is a complex interaction among several important factors • Mediating factors—gender, ethnicity, socioeconomic background—determine how broader cultural-historical forces will be experienced • The family will shape one’s experience in important ways • Each person’s unique personal characteristics will determine how they act in and adapt to the broader context in which life unfolds Copyright © 2010 Pearson Education, Inc. All rights reserved. Summary • Genetic instructions are contained in the DNA molecules found in the nucleus of each of our cells. • The basic unit of inheritance is the gene; genes are units of DNA molecules • The cells are arranged in chromosomes, and we have 23 pairs of chromosomes in each cell • Genotype refers to what our genes are, but phenotype refers to what we actually express, or look like • Most human characteristics are caused by more than one pair of genes • Some genes are dominant, some recessive Copyright © 2010 Pearson Education, Inc. All rights reserved. Summary • Genetic and chromosomal disorders may cause birth defects and other problems, such as spontaneous abortions • Genetic tests today allow prospective parents to learn if their baby might have genetic defects. Through genetic counseling they can assess the risk of carrying the baby to term • Behavior genetics studies how genes impact human behavior • But human behavior is never caused by genes alone, rather there are complex interactions between our genes and the environment Copyright © 2010 Pearson Education, Inc. All rights reserved. Summary • Environmental influences on our genes can be very specific events in our individual lives, or they can occur broadly across cultures • Learning is one of the primary environmental factors that shape our development. Major forms of learning include: • Classical and operant conditioning • Social learning • All development takes place in the broader context of family and culture • Thus, hereditary and environmental forces continually interact as development unfolds Copyright © 2010 Pearson Education, Inc. All rights reserved.