Kathleen Stassen Berger

Part I
The Genetic Code From One Cell to Many From Genotype to Phenotype Chromosomal and Genetic Abnormalities

Chapter Three

Heredity and Environment

Prepared by Madeleine Lacefield Tattoon, M.A.

The Genetic Code

Genes play a leading role in the drama of human development, yet they rarely take center stage. Genes are pervasive and powerful, but they are also hidden and elusive.

What Genes Are

DNA (deoxyribonucleic acid)
Molecule that contains the chemical instructions for cells to manufacture various proteins. Chromosome
a molecule of DNA that contains the instructions to make proteins Humans have 46 chromosomes (23 pairs), and about 25,000 genes.

Genome
the code for making a human being

Every person has a slightly different code, but the human genome is 99.5% the same for any 2 people.
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What Genes Are

Genes are as section of chromosomes and the basic unit for the transmission of heredity, consisting of a string of chemicals that code for the manufacture of certain proteins.

The Beginnings of Life

development begins at conceptioneach human reproductive cell or gamete, contains 23 chromosomes, half of that persons 46 gamete A reproductive cell; that is, a sperm or ovum that can produce a new individual if it combines with a gamete from the other sex to make a zygote
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The Beginnings of Life

Matching Genes
conception occurs in the usual way
zygote
the single cell formed from the fusing of two gametes, a sperm and an ovum

genotype
An organisms entire genetic inheritance, or genetic potential

The Beginnings of Life

Male or Female?

From One Cell to Many

phenotype
the observable characteristic of a person, including appearance, personality, intelligence, and all other traits

From One Cell to Many

New Cells, New Functions
Gene-Gene Interactions occurs through cell differentiation, gene-gene (polygenic), and gene-environment interaction Multifactorial refers to a trait that is affected by many factors, both genetic and environmental The Human Genome Project is an international effort to map the entire human genome researchers have found that humans have only about 25,000 genes, 99% of which are present in the genomes of other creatures as well

From One Cell to Many

Additive Heredity
an allele is a slight, normal variation of a particular gene

some alleles are

additive genes combine to make a phenotype

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From One Cell to Many

Dominant-Recessive Heredity
the interaction of a pair of alleles in such a way that the phenotype reveals the influence of one allele (the dominant gene) more than that of the other (the recessive gene) a special case of the dominant-recessive pattern occurs with genes that are x-linked, located on the x chromosome

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From One Cell to Many

More Complications
A small alteration in the sequence of base pairs or several extra repetitions in one triplet ma be inconsequential or may cascade to create a major problem

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From One Cell to Many

Twins, Clones, Assisted Reproduction (ART)
dizygotic (fraternal) twins
result from two sperm penetrating two ova, and share 50% of their genes

monozygotic (identical) twins

originate from one zygote, and share 100% genes

a clone originates from a live organism ART general term for the technique designed to help infertile couples conceive and then sustain a pregnancy
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From One Cell to Many

Assisted Reproduction (ART)
general term for the technique designed to help infertile couples conceive and then sustain a pregnancy

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From Genotype to Phenotype

Scientist in many nations have studied thousands of twins, both monozygotic and dizygotic, raised together in the same home and raised separately in different homes

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From Genotype to Phenotype

Genes affect every aspect of human behavior, including social and cognitive behavior Most environmental influences on children raised in the same home are not shared
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From Genotype to Phenotype

Each childs genes elicit other peoples responses, and these responses shape development. In other words, a childs environment is partly the result of his or her genes. Children, adolescents, and especially adults choose environments that are compatible with their genes (called nichepicking), and thus genetic influences in adulthood
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From Genotype to Phenotype

Carrier
a person whose genotype includes a gene that is not expressed in the phenotypesuch an unexpressed gene occurs in half of the carriers gametes and thus is passed on to half of the carriers children, who will most likely be carriers, too Generally, only when the gene is inherited from both parents does the characteristic appear in the phenotype.
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From Genotype to Phenotype

Addiction
inherited biochemistry making people vulnerable to various addition any one can abuse drugs or alcohol but genes create an addictive pull that can be overpowering, extremely weak, or somewhere in between

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From Genotype to Phenotype

Visual Acuity
New borns cannot focus more than 2 feet away Children see better each year until about age 8 Many adolescents become nearsighted when eyeball shape changes Vision is more likely to improve than to worsen until age 40
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From Genotype to Phenotype

Visual Acuity
In middle age, the elasticity of the lens decrease and the eyeball shape change again, so that many people become farsighted and need reading glasses Among the old, eye diseases, including cataracts, are common About 10 percent of people over age 90 are blind
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From Genotype to Phenotype

Nearsightedness and Genes
If children have a vision problem it is most often myopia (nearsightedness) Nearsightedness is a symptom in more than 150 genetic syndromes Caused by physical trauma or illness, such as the rubella virus, or poor nutrition (such as vitamin A deficiency These factors cause high nearsightedness, so severe that it can lead to blindness
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From Genotype to Phenotype

Culture and Cohort
genes are not the major cause of poor vision
historical and multicultural research finds that environment also influences nearsightedness
if diet is deficient of vitamin A

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From Genotype to Phenotype

Practical Application
developmental application of naturenurture interaction
family history of genetic problems someone inherited a problem
alcoholism in the genes lack of outdoor play

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From Genotype to Phenotype

Practical Application
type 2 diabetes (adult-onset diabetes)
a chronic disease which the body does not produce enough insulin to adequately metabolize carbohydrate (glucose) it typically developed in people aged 50 - 60today it often appears in younger people

begins when a person is vulnerable and has more body fat than is ideal
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From Genotype to Phenotype

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Chromosomal and Genetic Abnormalities

abnormalities caused by identifiable problemsthose with an extra chromosome or a single gene study of these problems is relevant to the study of development providing insight into the complexities of nature and nurture knowing their origins helps limit these effects information combats the prejudice that surrounds such problems

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Chromosomal and Genetic Abnormalities

Not Exactly 46 Chromosomes
a variable that most often correlates with chromosomal abnormalities is the age of the mother occur not only in the formation of gametes but also in their early duplication mosaic is having a condition (mosaicism) that involves having a mixture of cells, some normal and some with an odd number of chromosomes or a sense of missing genes
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Chromosomal and Genetic Abnormalities Down Syndrome

a condition in which a person has 47 chromosomes instead of the usual 46, with three rather than two chromosomes at the 21st position people with Down Syndrome typically have distinctive characteristics, including unusual facial features, heart abnormities, and language difficulties
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Chromosomal and Genetic Abnormalities Abnormalities of the 23rd Pair

humans have at least 44 autosomes and one X chromosome
an embryo cannot develop without an X chromosome an odd number of X chromosomes impairs cognition and psychosocial development and sexual maturation if a child has three sex chromosomes instead of two he/she may seem normal until puberty
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Chromosomal and Genetic Abnormalities Dominant-Gene Disorders

everyone carries genes or alleles that could produce serous diseases or handicaps in the next generation 7,000 single-gene disorders
their dominant effects are apparent in the phenotype

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Chromosomal and Genetic Abnormalities Fragile X Syndrome

a genetic disorder in which part of the X chromosome seems to be attached to the rest of it by a very thin string of molecules the actual cause is too many repetitions of a particular part of a genes code

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Chromosomal and Genetic Abnormalities Recessive-Gene Disorder

most recessive disorders are not X-linked double recessive patterns are lethalone recessive gene is protective sometimes a person who carried a lethal gene has many descendants who marry each other the genetic disease then becomes common in that group

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Chromosomal and Genetic Abnormalities Genetic Counseling and Testing

consultation and testing by trained experts that enable individuals to learn about their genetic heritage, including harmful conditions that they might pass along to any children they may conceive

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Chromosomal and Genetic Abnormalities Who Should Get Counseling, and When?
genetic counseling
consultation and testing by trained experts that enable individuals to learn about their genetic heritage, including harmful conditions that they might pass along to any children they may conceive

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Chromosomal and Genetic Abnormalities Is knowledge Always Power?

Genetic counselors, scientist, and the general public usually favor testing
having some information is better than having none

high risk individuals (who might hear bad news) do not always want to know
the truth might jeopardize their marriage, their insurance coverage, or their chance of parenthood
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Chromosomal and Genetic Abnormalities Coping with Uncertainty

much is uncertain in genetic testing and counseling those who learn that they have a harmful dominant gene have new information, as well as new uncertainties interaction of genes and the environment makes development overt the life span unpredictable, even if the genes are known
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