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Chapter TwoHeredity and Environment

Learning Objectives

After reading Chapter 2, students will know:

how we inherit traits from our parents, and how those traits are expressed.

the kinds of disorders that are caused by problems in how genes are inherited.

why adopted children and twins are of special interest to those who study behavior genetics.

how environmental events exert their influence on developmental processes.

how one’s family and culture help shape the way that development unfolds.

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Key Terms and Concepts

Age cohortAllelesAutosomesBaseBase pairsBehavior geneticsBehavior modificationCellsChromosomeCodominanceCongenital anomaliesDeoxyribonucleic acidDevelopmental nicheDominantEthnocentrismGametesGene imprintingGene therapyGenesGenetic counselingGenotypeHabituationHeritabilityHeterozygousHomozygousIncomplete dominanceKaryotypeMeiosisMitosisMutationNonnormative influencesNormative age graded influencesNormative history graded influencesNucleotidesPartial schedulesPhenotypePhobiaPolygenic inheritanceProteinsPunishmentRecessiveRecombinant DVA technologyReinforcerSelf concept

Self efficacySex chromosomesSex linked traitsShaping

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Chapter Outline

I. Molecular Genetics

A. Human cells 1. CELLS – the smallest self contained structures in the human body

2. Cell membrane allows nutrients and other chemicals to enter and waste products to exit the cell

3. Cytoplasm is the fluid that plays host to specialized structures

4. Mitochondria are the powerhouses of the cell

5. Endoplasmic reticulum, golgi apparatus, and ribosomes are involved in the production of proteins

6. DEOXYRIBONUCLEIC ACID – a large, complex molecule composed of carbon, hydrogen, oxygen, nitrogen, and phosphorus that contains the genetic code that regulates the functioning and development of an organism

B. DNA

1. Shaped like a double helix or twisted ladder

2. NUCLEOTIDES – the building blocks of DNA

3. BASE – a nitrogen carbon hydrogen component of nucleotides

a. adenine

b. thymine

c. cytosine

d. guanine

4. BASE PAIRS – a rung in the DNA ladder; the base adenine pairs only with the base thymine, the base cytosine pairs only with the base guanine

5. Three things specify differences

a. which side of the ladder each base comes from

b. the order in which the base pairs occur

c. the overall number of base pairs in the nucleotide

6. Only 0.1% of human DNA varies from person to person

C. Genes 1. GENES – the basic units of inheritance that are composed of

sequences of base pairs within the DNA of an organism

2. Work in gene mapping is proceeding quickly as major breakthroughs are being announced every week

D. Protein Synthesis

1. PROTEINS – molecules that perform a diverse array of crucial functions in the human body

2. The process consists of a complex series of reactions

II. Genes, Chromosomes, and Cell Division A. CHROMOSOME – a chain of genes visible under a microscope; humans

normally have 46 chromosomes

B. AUTOSOMES - in humans, consists of 22 of the 23 pairs of chromosomes, except those that determine sex

C. SEX CHROMOSOME – in humans, the 23rd chromosome pair, which determines sex

D. KARYOTYPE – a photograph of a cell’s chromosomes arranged in pairs according to size

E. Cell division and reproduction 1. MITOSIS – the process of ordinary cell division that results in two

cells identical to the parent cell

2. MEIOSIS – the process of cell division that yields sperm and ova, each including one half of a full set of chromosomes

3. GAMETES – reproductive cells that are formed by the process of meiosis

4. In males, meiosis occurs in the testes

5. In females, meiosis occurs in the ovaries

F. From genotype to phenotype

1. ALLELES – a pair of genes found on corresponding chromosomes that affect the same trait

2. GENOTYPES – the genetic code of a given individual

3. Simple dominance and recessiveness

a. DOMINANT – in genetics, one gene of a gene pair that will cause a particular trait to be expressed

b. RECESSIVE – in genetics, one of a gene pair that determines a trait in an individual only if the other member of that pair is also recessive

c. PHENOTYPE – in genetics, those traits that are expressed in the individual

d. HOMOZYGOUS – the arrangement in which the two alleles for a simple dominant recessive trait are the same

e. HETEROZYGOUS – the arrangement in which the two alleles for a simple dominant recessive trait differ

4. Combinations of genes

a. POLYGENIC INHERITANCE – the inheritance of a trait that is determined by multiple genes

b. INCOMPLETE DOMINANCE – the case in which a heterozygous genotype results in a phenotype that is intermediate between the phenotypes of dominant versus recessive homozygous genotypes

c. CODOMINANCE – the case in which both dominant and recessive alleles are expressed in the phenotype

5. SEX LINKED TRAITS – traits that are determined by genes on the 23rd chromosome pair

G. The variation of traits among individuals

1. Meiosis and individual variation

a. Individual variations occurs in several ways

b. When chromosomes separate at the beginning of meiotic division, genetic material randomly crosses over resulting in new recombinant alleles

c. Chance determines which half of the chromosome pairs will go into which sperm or ovum

d. Which sperm and ovum unite is also determined by chance

2. Mutation

a. MUTATION – an alteration in the DNA that typically occurs during mitosis or meiosis and is therefore transmitted to subsequent cells through cell division

b. In mitosis, if a viable mutation occurs early in development, it will be passed along to all the cells replicated

c. In meiosis, a mutation is incorporated into the genetic code and passed along to offspring in the sperm or ova

III. Genetic and chromosomal disorders A. CONGENITAL ANOMOLIES – also called birth defects; abnormalities that

result from genetic and chromosomal problems as well as from exposure to toxins, disease, and such during the prenatal period

B. Sex linked disorders

1. Occur via dominant-recessive genetic patterns

Activity 2a

2. Sex linked disorders also occur when the gametes do not replicate correctly

3. Chromosomal breakage can also occur; this breakage produces brain deficiencies

4. Fragile X syndrome is a form of mental retardation that has become the most common hereditary disorder associated with mental retardation

C. Autosomal disorders

1. Occur when the other 22 pairs of chromosomes have defects

2. Down syndrome is the most common

3. GENE IMPRINTING – a phenomenon in which gene expression and phenotype depend on which parent the genes come from

4. Gene imprinting can cause problems if one parent’s genes are defective

D. Genetic counseling

1. GENETIC COUNSELING – a widely available resource that can help potential parents evaluate genetic risk factors in childbearing and enable them to make choices that reflect their values and circumstances

2. Often includes the analysis of parental medical records and family histories to construct a genetic pedigree which identifies previous instances of congenital anomalies

3. If it reveals the presence of a heritable genetic disorder, the counselor evaluates the couple’s risk of having a baby with the disorder

E. Advances in genetic research and treatment 1. RECOMBIANT DNA TECHNOLOGY – an assortment of highly

sophisticated procedures in which DNA is extracted from cell nuclei and cut into segments; the resulting fragments are then joined to self replicating elements, in essence forming functional gene clones, these are then placed in host bacterial cells to be maintained and cultured

2. GENE THERAPY – an approach to establishing cures for genetic disorders that can be applied at any point from altering the molecular structure of DNA to altering the process of protein synthesis

3. Retroviruses are viruses capable of penetrating cells but they do not have adverse effects

IV. Behavior genetics

Activity 2b

Activity 2c, 2d

2c

WebVid 2a, 2b

Lecture 2b, 2d

Lecture 2c

Video 2a

Video 2b

Video 2 c

A. BEHAVIOR GENETICS – the study of the relationship between behavior and genetic makeup

B. HERITABILITY – the extent to which a trait is inherited verses acquired, thus presuming a genetic basis; note that heritability estimates are influenced by the environments in which they are considered

C. Adoption studies

1. Studies how adopted children resemble their biological versus adoptive parents

2. This allows us to understand the relative importance of genetic and environmental determinants of behavior

D. Twin studies

1. Twin studies examine the degree to which individuals who are genetically more alike compare on traits

2. Typically reveals that identical twins show a higher concordance than fraternal twins

3. Also suggest that a wide range of specific personality traits are at least partly heritable

4. Special care has to be taken when interpreting results because the degree of environmental effects needs to be considered

V. Environmental influences and contexts

A. Basic processes that affect behavior

1. HABITUATION – ceasing to attend or respond to repetitive stimulation; occurs at several levels, from sensation to perception to higher cognition

2. Classical conditioning

a. The kind of learning that occurs when repeated trials and associations between stimuli and behavior occur

b. PHOBIA – the unreasonable fear of an object or a situation 3. Operant conditioning

a. REINFORCER – a stimulus that increases the likelihood that the behavior the reinforcer follows will recur

b. PUNISHMENT – a stimulus that decreases the likelihood that the behavior the punishment follows will recur

c. PARTIAL SCHEDULES – a procedure in which only some responses are reinforced or punished; produces much stronger habits that continuous reinforcement

d. SHAPING – systematically reinforcing successive approximations to a desired behavior

Video 2d

Video 2e

Video 2f

B. Conditioning, behavior modification, and life

1. Simple learning processes underlie many basic habits

2. BEHAVIOR MODIFICATION – a method that uses conditioning procedures to change behavior

C. Social learning and the evolving self concept 1. SELF CONCEPT – one’s beliefs and feelings about oneself;

defines who an individual is

2. SELF EFFICACY – what a person believes he or she is capable of doing in a given situation

VI. Environment in a broader context: family and culture A. DEVELOPMENTAL NICHE – the interaction of components that

determines the unique world of each individual

B. Family systems

1. The way family interacts with each other, especially when children are young, has an intricate and dynamic impact on development

2. There is also a set of nonshared experiences and relationships

3. The birth of a second child complicates things

a. The mother spends less time with the first child

b. An affectionate relationship with the father tends to become closer

c. Conflict with the mother increases

C. The family as transmitter of culture

1. In complex multiethnic societies, the embedding of culture in children is more difficult

2. The cultural traditions of a family may be in conflict with the majority

3. ETHNOCENTRISM – the tendency to assume that our own beliefs, perceptions, customs, and values are correct or normal and that those of others are inferior or abnormal

4. Socialization is a lifelong process through which individuals are taught to function as members of a social group

D. Sociocultural influences on development across the lifespan

1. AGE COHORT – group of individuals of similar ages

2. NORMATIVE AGE GRADED INFLUENCES - the biological and social changes that normally happen at predictable ages

3. NORMATIVE HISTORY GRADED INFLUENCES – the historical events that affect large numbers of individuals at the same time

Lecture 2a

4. NONNORMATIVE INFLUENCES – the individual environmental factors that do not occur at any predictable time in a person’s life

5. Mediating factors

a. Age

b. Gender

c. Ethnicity

6. Human development: an interactive process

a. Different backgrounds, different motivations, and different interests need to be considered when thinking about development

b. It is important to consider the ways in which hereditary and environmental factors that interact to produce the uniqueness of each individual

Lecture Suggestions

Lecture 2a. History and its Influence

When discussing the difficulties of developmental research in the context of history-graded and age-graded, many of the students in an undergraduate class have difficulty understanding how much the world has changed in the last 100 years. I find it useful to present a series of findings about how health care, life expectancy, etc. have changed over time and how these changes make it difficult to study many seemingly straightforward development issues (e.g., does memory get worse as we age, how do the schools of today compare to those of 30 years ago). The American History website sponsored by Kingwood College (http://kclibrary.nhmcced.edu/decades.html) provides a very nice list of cultural events by decade for the United States. The CDC website with the Center for Statistics (http://www.cdc.gov/nchs/fastats/lifexpect.htm) provides very useful statistical information about a number of important health issues. For example, the average life expectancy in 1900 in the US was 47.3 years while in 2002 it was 77.3 years.

Lecture 2b. Genetic Counseling

Develop a lecture on the pros and cons of genetic counseling. Genetic counseling is a widely available resource according to the text that can aid potential parents in evaluating the genetic risk factors in childbearing and provide information that can help them make informed decisions. It is important to provide the students with information regarding the information that can be gleaned from this process. This involves providing information about the analysis of family histories as well as the use of prenatal

testing. The options available to the potential parents, such as deciding to adopt if the risk of genetic problems is high given family history, should be discussed. The options available to parents if genetic problems are identified through the use of prenatal tests can challenge the parent’s value systems.

Questions to be discussed can include: What prenatal tests should be routine? What are the justifiable factors for terminating a pregnancy? What role should insurance companies play in the decision process and in determining the factors that may be considered for terminating a pregnancy? In a broader scope, who should have a say in determining whether parents can terminate a pregnancy?

It may be useful to tell the class some examples of reproductive rights manipulations in the U.S. For example, eugenics programs that resulted in the sterilization of the mentally retarded were legal up through the 1960’s. See information available at http://en.wikipedia.org/wiki/Compulsory_sterilization.

Lecture 2c. Genetic Treatments, Genetic Engineering, and Cloning

The potential for the availability of genetic treatments has raised a number of interesting ethical and practical questions. Although genetic treatments and cloning are still primarily in the development stages, they hold great promise if certain technical obstacles can be overcome. There is a good section in the Craig textbook on these procedures. The use of genetic engineering, primarily in the form of selective breeding, to modify the characteristics of organisms in agriculture has been practiced for decades. The use of these procedures in humans has sparked much debate and the passage of some laws, even though the technology remains limited. The use of cloning technology to produce organs for transplants or to treat diseases such as Parkinson’s could potentially alleviate the suffering of large numbers of people. Recent movies (e.g., The Island and The 6th Day) have examined the issues of cloning. See these websites for more information.

http://www.bionetonline.org/English/Content/sc_leg1.htmhttp://www.cbc.ca/news/background/genetics_reproduction/cloning.html

Lecture 2d. Fertility: When and How to Make it Happen

There are many misconceptions about fertility. Develop a lecture examining the biology underlying successfully getting pregnant and reproduction or the myths associated with sex and pregnancy (Richmond et al., 2001). Topics can include: 1) how easy is it to get pregnant; 2) can you increase your odds of having a boy or a girl; and 3) infertility. For example, most students know that fertility rates decrease with age. However, recent research suggests that the decrease may begin earlier than previously thought. This is interesting because more and more women are delaying child rearing until later ages. The combination is resulting in a higher rate of infertility as couples try to build a family.

See these websites and articles.http://www.babyplan.org/uk/fertWindow.asp

http://www.cognettechnology.com/store/conunyourmos.htmlhttp://www.chem-tox.com/infertility/ Richmond, D.M., Sabatini, M.M., Krueger, H.L., & Rudy, S.J. (2001). Contraception:

Myths, facts, and methods. Dermatology Nursing, 13, 19-26.

Class Activities

Activity 2a. Magazine/Newspaper Survey

Ask students to search through recent issues of magazines and newspapers for articles on genetic research. Students can locate the original research report in order to determine how accurately the magazine or newspaper reported the story. Students can present their results either in a written paper and/or a presentation to the class.

Activity 2b. Living with Down Syndrome & other Developmental Disorders

Ask students to investigate how individuals and families are affected by developmental disorders, such as Fragile X syndrome, Down syndrome, Williams syndrome, etc. Students can make presentations to the class about what life is like for a child born with one of the syndromes described in the chapter. It is likely that some of your students will know individuals with some of these syndromes. The students may be able to share anecdotes about these individuals.

Activity 2c. Genetic Counseling

Arrange for a professional genetic counselor to visit the class and to explain how couples planning a family are provided with information about genetics and assessed for potential disorders occurring in their offspring. Alternatively, students can consider whether information gained through genetic counseling should be made available to the government and health insurance companies using Handout 2-1. Students can be instructed to interview 3 other people outside of class using this handout and can discuss the various responses in small groups in the next class.

Activity 2d. Critical Thinking Journals

Imagine you and your partner received information from a genetic counselor that a certain type of birth defect was possible for your children. For example, the counselor estimates that odds are your child has a 10% chance of having a mild birth defect (i.e., one that would cause little hindrance to the child in their quality of life). What would you do? What preparations or decisions would you make? What options would you want available to you? Now do the same thing with a moderate (i.e., one that would cause an impairment in the child’s quality of life that could be handled with additional resources and time) and severe birth defect (i.e., one that would cause a major decrease in the child’s quality of life).

Internet Video Clips

WebVid 2a. Time: 3:31

Description of different types of genetic testing:http://www.youtube.com/watch?v=dJuo937gz44

WebVid 2b. Time: 9:02

BBC documentary on Designer Babies with commentary by Princeton professor Lee Silver:

http://www.youtube.com/watch?v=TN9ep4B9Hw0&feature=PlayList&p=C7E239A945F4C4BA&playnext=1&playnext_from=PL&index=56

Pearson/Prentice Hall Video Clips

Video 2a . Down Syndrome Time: 4:49

This vignette focuses on an interview with a young adult with Down Syndrome (Tim) and his mother (Pam). The clip notes the genetic cause of Down Syndrome and focuses on the common problems associated with Down Syndrome. In particular, this clip emphasizes the learning capabilities of someone with Down Syndrome, and also highlights speech problems that sometimes accompany this disorder.

Related discussion questions: How might modern medical advances influence the incidence of Down

Syndrome, when comparing future birth statistics to those of 2 or 3 generations ago?

According to the mother interviewed, why is it especially important for infants with Down Syndrome to have early hearing and visual testing?

In what ways do individuals with Down Syndrome benefit from modern medical advances?

What kinds of social support do you think would be especially important to parents or caregivers of a child with Down Syndrome?

What advantages and disadvantages are associated with placing individuals with Down Syndrome in regular classes, both for the individual and for other students in the class? Do you support “mainstreaming” these students, or do you advocate providing special educational settings for them? Explain your viewpoint.

Video 2b . Educating Children with Down Syndrome Time: 1:18

This segment describes an intervention therapy for young children with Down Syndrome. The segment shows a 19-month-old child, Max, who is receiving these services in Charlottesville, Virginia The conclusion is that early intervention can help Down Syndrome children maximize their potential.

Related discussion questions: Why is much of the therapy in this program done at home? Why is the program undertaken as early in development as possible? What kinds of limitations would a child with Down Syndrome typically encounter?

Can you think of learning experiences that might be especially helpful for a child with this genetic disorder?

What advantages do you think would be obtained by having parents closely involved in the therapy program?

Do you believe that intervention programs such as the one noted in the video segment should be provided through government funding? Why or why not?

Video 2c . Genetic Counseling

A genetic counselor is interviewed. She talks about the purposes of genetic counseling, when genetic counseling is appropriate, and how a genetic counselor works with family members to understand genetic risks and available tests, explain diagnoses, and provide counseling about treatment options.

Related discussion questions: When would genetic counseling be a good option for a person to explore? Why is a family “pedigree” constructed in the process of genetic counseling? Why is genetic counseling becoming more common? Should families in every case have the final right to determine whether a

genetic condition will be treated? Why or why not? If you and your partner chose to become pregnant, and if one of you has a

strong family history of a genetic condition, would you choose to undergo prenatal genetic testing? Why or why not?How might a person’s religious beliefs influence that person’s decision to undergo genetic testing?

Video 2d . Cloning Humans? Time: 1:40

This segment describes the techniques involved in cloning and provides comments from medical ethicist George Annas about the feasibility and ethics of cloning humans. The segment notes that cloning may not be safe, and hence should not be used to create new human life, although, since animals are routinely cloned, human cloning may be inevitable.

Related discussion questions:

What health concerns are associated with cloning? What ethical concerns are associated with cloning humans? Do you think Congress should impose a ban on human cloning? Why or why

not? Do you think that human tissue might be cloned for medical purposes? Why or

why not? What religious implications are raised by a discussion of human cloning?

Video 2e . Twins Separated at Birth Time: 5:52

This segment presents an engaging interview broadcast on “Good Morning America” (October 5, 2007) with two adult women who are identical twins separated at birth. The twins were given up for adoption at birth (in 1968) by their mother, who suffered from mental illness, and were placed in separate homes as part of a twin study to determine the relative influence of nature versus nurture. Neither knew she had a twin sister until they were reunited as adults. Their story, written into the book, “Identical Strangers: A Memoir of Twins Separated and Reunited,” tells the story of Elyse and Paula, who have discovered amazing coincidences in their lives. The video segment itself does not discuss ethical issues suggested by the twin study, but the interview provides an opportunity to raise ethical concerns associated with some types of psychological research. This segment also could be used to cue the discussion of the relative contribution of genes and environment to human development across the lifespan.

Related discussion questions: Why were these twins given up for adoption? Do you think that the reason they

were given up might have contributed to their separation and their placement as participants in this study?

When, how, and why were the twins reunited? What similarities have the twins experienced throughout their lives? Do you think

these similar preferences and experiences are coincidences, or are the result of genetic programming?

Do you think this study was ethically performed? Why or why not? What ethical standards does this study call into question? Why would research investigating the placement of identical twins in separate

homes be of special interest to psychologists interested in “nature versus nurture” questions?

Video 2f . Little Albert’s Conditioned Fear Response Time: 0:51

This historical footage shows the basic paradigm used to classically condition a fear response in a baby named Albert. The research depicted was published as the “little Albert” study by Watson and Raynor in 1920, and is briefly described in a box in Chapter 1.

Related discussion questions:

In the ‘little Albert” study, what was the conditioned stimulus? The conditioned response?

What is meant by “generalization” of a fear response? How was this demonstrated in the “little Albert” study?

Can you suggest a case of a phobia that likely was the result of classical conditioning?

Can you suggest a positive emotional response that was the result of classical conditioning?

Supplemental Readings: Current Research

Article 2a. Amso, D., Casey, B. J. (2006). Beyond What Develops When. Current Directions in

Psychological Science, 15, 24-29.

One major contribution of neuroscience to understanding cognitive development has been in demonstrating that biology is not destiny that is, demonstrating the remarkable role of experience in shaping the mind, brain, and body. Only rarely has neuroscience provided wholly new insights into cognitive development, but often it has provided evidence of mechanisms by which observations of developmental psychologists could be explained. Behavioral findings have often remained controversial until an underlying biological mechanism for them was offered. Neuroscience has demonstrated promise for detecting cognitive problems before they are behaviorally observable and, hence, promise for early intervention. In this article, we discuss examples drawn from imitation and mirror neurons, phenylketonuria (PKU) and prefrontal dopamine, maternal touch and stress reactivity, and nongenetic (behavioral) intergenerational transmission of biological characteristic.

Article 2b. Bellugi, U., Doyle, T. F., Järvinen-Pasley, A., Korenberg, J. R., Reilly, J., Reiss, A. L.

(2007). Affect, Social Behavior, and the Brain in Williams Syndrome. Current Directions in Psychological Science, 16, 99-104.

Williams syndrome (WS) is a rare genetic disorder characterized by intellectual impairment and a distinctive physical and neuropsychological profile. Relative to their level of intellectual functioning, individuals with WS exhibit strengths in language and face recognition, with deficits in visual-spatial cognition. A heightened appetitive drive toward social interaction is a strong behavioral feature. Relative to other neurodevelopmental disorders, WS has a clearly defined genetic basis, together with a consistent neurocognitive profile of strengths and deficits. Thus, this disorder offers unique opportunities for elucidating gene-brain-behavior relationships. We focus on manifestations of the unusual social profile in WS, by examining data within and across levels of cognition, brain, and molecular genetics.

Article 2c. Widaman, K. F. (2009). Phenylketonuria in Children and Mothers: Genes,

Environments, Behavior. Current Directions in Psychological Science, 18, 48-52.

Phenylketonuria (PKU) is an inborn metabolic error in which metabolism of phenylalanine into tyrosine is disrupted. If the diet of an infant with PKU is not restricted, blood phenylalanine levels are elevated, leading to irremediable brain damage and severe mental retardation. Children with PKU who are placed early and continuously on a low-phenylalanine diet develop normal levels of intelligence, and brain damage is largely prevented. However, if the diet of a mother with PKU is unrestricted during her pregnancy, high phenylalanine levels in her blood can cross the placental barrier and damage the developing fetus in multiple ways. These results demonstrate how genes and environmental factors combine to create prenatal environments that can have profound effects on the growth and development of offspring during infancy and childhood.

Handout 2-1Interview on Genetic Counseling

Select 3 people you know and ask them the following questions. Be sure to describe each person interviewed as follows:

Sex ____ Age ____ Education (highest level completed) _____________

Occupation ______________________

________________________________________________________________________

1. Do you think everyone should be required to have genetic counseling before having a baby? Why or why not?

2. If genetic counseling indicates that a couple has a chance of having a baby with a genetic disorder, should be the couple be allowed to have a baby? Why or why not?

3. If a couple has a baby after being warned that they have a 25% or greater chance of having a child with a serious genetic disorder, should they be able to use public health services for the child? Why or why not?

4. Do you think that health insurance companies and life insurance companies should be allowed to treat individuals with high probability of developing a genetic disorder differently than those without such a chance, such as charging them more for coverage or dropping them altogether as clients? Why or why not?

5. Do you believe that an individual’s genetic profile should be off-limits to companies? Should it be off-limits to the government? Why or why not?