Orders placed are usually shipped within 3 business days. Shopping Cart Your shopping cart is empty Designed for the introductory genetics or heredity course, this concise, well-written, and well-illustrated text combines thorough coverage with a superior supplement and media package that offers a wealth of study tools--including the customized learning paths of CengageNOW. This process, called DNA replication, is essential to maintain the information when the cell divides.
DNA also directs the production of specific proteins. Each three such RNA bases in a row attract another type of RNA that functions as a connector, bringing with it a particular amino acid, which is a building block of protein. The building of a protein is called translation. As the two types of RNA temporarily bond, the amino acids align and join, forming a protein that is then released.
Knowing the nature of a protein can explain how it confers a trait or illness. Consider sickle cell disease, in which red blood cells bend into crescent shapes that lodge in tiny blood vessels, blocking oxygen delivery OMIM The replaced amino acid causes the globin molecules to attach to each other differently, forming sticky sheets where oxygen level is low.
This action, in turn, distorts the shapes of the red blood cells containing the abnormal proteins. The result of the blocked circulation: strokes, blindness, kidney damage, and severe pain in the hands and feet. Identifying the exact alteration in a gene and understanding if and how the affected protein disrupts normal functions provides valuable information for developing new treatments. Discovering how a gene functions, however, is only the beginning of explaining how a trait arises, because proteins interact with each other and with signals from the environment in complex ways.
Gene 1. DNA 4. Human genome 23 chromosome pairs Cell Nucleus 3. Chromosome Figure 1. Genetics can be considered at several levels, from DNA, to genes, to chromosomes, to genomes, to the more familiar individuals, families, and populations. A gene is actually several hundred or thousand DNA bases long. Once a gene mutates, the change is passed on when the cell that contains it divides. If the change is in a sperm or egg cell that becomes a fertilized egg, it is passed to the next generation.
Some mutations cause disease, and others provide variation, such as freckled skin. Some mutations may help. These people are resistant to HIV infection.
The myostatin mutation in the German family described in the chapter opener is an advantage to an athlete. Many mutations have no visible effect because they do not change the encoded protein in a way that affects its function, just as a minor spelling errror does not obscure the meaning of a sentence.
SNPs can cause disease or just mark places in the genome where people differ. A huge research effort 4 currently focuses on identifying combinations of SNPs that are found almost exclusively among people with a particular disorder. These SNP patterns are then used to estimate disease risks. DNA molecules are very long. They wrap around proteins and wind tightly, forming structures called chromosomes.
A human somatic non-sex cell has 23 pairs of chromosomes. Twenty-two pairs are autosomes, which do not differ between the sexes.
The autosomes are numbered from 1 to 22, with 1 the largest. The other two chromosomes, the X and the Y, are sex chromosomes.
The Y chromosome bears genes that determine maleness. In humans, a female has two X chromosomes and a male has one X and one Y. Charts called karyotypes display the chromosome pairs from largest to smallest. A human cell has two complete sets of genetic information. The 20, or more protein-encoding genes are scattered among 3 billion DNA bases in each set of 23 chromosomes.
Cells, Tissues, and Organs A human body consists of trillions of cells. All cells except red blood cells contain all of the genetic instructions, but cells differ in appearance and function because they use only some of their genes.
The expression of different subsets of genes drives the differentiation, or specialization, of distinctive cell types. A muscle cell manufactures its abundant contractile protein fibers, but not the scaly keratins that fill skin cells, or the collagen and elastin proteins of connective tissue cells. All three cell types, however, have complete genomes. Differentiated cells aggregate and interact, forming tissues, which in turn aggregate and interact to form organs and organ systems figure 1.
Parts of some organs are made up of rare, unspecialized stem cells that can divide to yield another stem cell and a cell that differentiates. Thanks to stem cells, organs can maintain a reserve supply of cells to grow and repair damage. Yet stem cells are normally tightly controlled—lifting of this control in the German boy described in the chapter-opening case study led to overgrowth of his muscles. Individual Two terms distinguish the alleles that are present in an individual from the alleles that are expressed.
Alleles are further distinguished by how many copies it takes to affect the phenotype. A dominant allele has an effect when present in just one copy on one chromosome , whereas a recessive allele must be present on both chromosomes to be expressed. Family Individuals are genetically connected into families.
A person has half of his or her genes in common with each parent and each sibling, and one-quarter with each grandparent. First cousins share one-eighth of their genes. For many years, transmission or Mendelian genetics dealt with single genes in families. Today family genetic studies may consider more than one gene at a time, or traits that have substantial environmental components.
That is, the scope of transmission genetics has greatly broadened in recent years. Charts called pedigrees represent the members of a family and indicate which individuals have particular inherited traits. Chapter 4 includes many pedigrees.
These small-scale genetic changes foster the more obvious species distinctions we most often associate with evolution. Evolution Population Above the family level of genetic organization is the population. In a strict biological sense, a population is a group of interbreeding individuals. In a genetic sense, a population is a large collection of alleles, distinguished by their frequencies.
People from a Swedish population, for example, would have a greater frequency of alleles that specify light hair and skin than people from a population in Ethiopia, who tend to have dark hair and skin. The fact that groups of people look different and may suffer from different health problems reflects the frequencies of their distinctive sets of alleles. All the alleles in a population constitute the gene pool.
An individual does not have a gene pool. Population genetics is applied in health care, forensics, and other fields. It is also the basis of evolution, which is defined as Comparing DNA sequences for individual genes, or the amino acid sequences of the proteins that the genes encode, can reveal how closely related different types of organisms are figure 1.
The underlying assumption is that the more similar the sequences are, the more recently two species diverged from a shared ancestor. This is a more plausible explanation than two species having evolved similar or identical gene sequences by chance. Genome sequence comparisons reveal more about evolutionary relationships than comparing single genes, simply because there are more data. Humans, for example, share more than 98 percent of the DNA sequence with chimpanzees.
Our genomes differ from theirs more in gene organization and in the number of copies of genes than in the overall sequence. All life is related, and different species share a basic set of genes that makes life possible. The more closely related we are to another species, the more genes we have in common. This illustration depicts how humans are related to certain contemporaries whose genomes have been sequenced.
During evolution, species diverged from shared ancestors. For example, humans diverged more recently from chimps, our closest relative, than from mice, pufferfish, sea squirts, flies, or yeast. Autosome A chromosome that does not include a gene that determines sex. Chromosome A structure, consisting of DNA and protein, that carries the genes. DNA Deoxyribonucleic acid; the molecule whose building block sequence encodes the information that a cell uses to construct a particular protein.
Dominant An allele that exerts an effect when present in just one copy. Gene A sequence of DNA that has a known function, such as encoding protein or controlling gene expression. Gene pool All of the genes in a population. Genotype The allele combination in an individual.
Karyotype A size-order display of chromosomes. Mendelian trait A trait completely determined by a single gene. Multifactorial trait A trait determined by one or more genes and by the environment; also called a complex trait. Pedigree A diagram used to follow inheritance of a trait in a family. Phenotype The observable expression of an allele combination.
Polymorphism A site in a genome that varies in 1 percent or more of a population. Recessive An allele that exerts an effect only when present in two copies. Sex chromosome A chromosome that carries genes whose presence or absence determines sex.
Reading At the level of genetic instructions for building a body, we are not very different from other organisms. Humans also share many DNA sequences with mice, pufferfish, and fruit flies. Dogs get many of the same genetic diseases that we do! We even share some genes necessary for life with simple organisms such as yeast and bacteria. Comparisons of people at the genome level reveal that we are much more alike genetically than are other mammals.
Among modern humans, the most genetically diverse are Africans because Africa is where humanity arose. The gene variants among different modern ethnic groups are all subsets of our ancestral African gene pool. Table 1. Key Concepts 1. Genetics is the study of inherited traits and their variation. Genetics can be considered at the levels of DNA, genes, chromosomes, genomes, cells, tissues, organs, individuals, families, and populations.
A gene can exist in more than one form, or allele. Comparing genomes among species reveals evolutionary relatedness. These are called single-gene or Mendelian traits. This may have been an overly simple view. Most genes do not function alone but are influenced by the actions of other genes, as well as by factors in the environment. For example, a number of genes control how we metabolize nutrients—that is, how much energy calories we extract from food.
However, the numbers and types of bacteria that live in our intestines vary from person to person, and these microbes affect how many calories we extract from food. This is one reason why some people can eat a great deal and not gain weight, yet others gain weight easily. Multifactorial, or complex, traits are those that are determined by one or more genes and the environment figure 1.
The term complex traits has different meanings in a scientific and a popular sense, so this book uses the more precise term multifactorial. Complicating matters further is the fact that some illnesses occur in different forms— they may be inherited or not, and if inherited, may be caused by one gene or more than one. Researchers can develop treatments based on the easier-to-study inherited form of an illness that can then be used to treat the more common, multifactorial forms.
For example, cholesterol-lowering drugs were developed from work on the one-in-a-million children with familial hypercholesterolemia OMIM see figure 5.
Genes and Disease Risk Knowing whether a trait or illness is single-gene or multifactorial is important for predicting the risk of recurrence. The probability that a single-gene trait will occur in a particular family member is simple to calculate using the laws that Mendel derived, discussed in chapter 4.
In contrast, predicting the recurrence of a multifactorial trait is difficult because several contributing factors are at play. One form of inherited breast cancer illustrates how the fact that genes rarely act alone can complicate the calculation of risk.
In Jewish families of eastern European descent Ashkenazim , the most common BRCA1 mutation confers an 86 percent chance of developing the disease over a lifetime. But women from other ethnic groups who inherit this allele have only a 45 percent chance.
The different incidence of disease associated with inheriting the same gene, depending 8 b. Incidence refers to the frequency of a condition in a population. Prevalence refers to how common a condition is in a particular area at a particular time. For example, exposure to pesticides that mimic the effects of the hormone estrogen may contribute to causing breast cancer. It can be difficult to tease apart these genetic and environmental influences.
This population includes both many Ashkenazim and many people exposed to pesticides. Genetic Determinism The fact that the environment modifies gene actions counters the idea of genetic determinism, which is that an inherited trait is inevitable. In predictive testing for inherited disease, which detects a diseasecausing allele in a person without symptoms, results are presented as risks, rather than foregone conclusions, because the environment can modify gene expression.
Genetic determinism may be harmful or helpful, depending upon how we apply it. As part of social policy, genetic determinism can be disastrous. Environment, in fact, has a huge impact on intellectual development.
Identifying the genetic component to a trait can, however, be helpful in that it gives us more control over our health by guiding us in influencing noninherited factors, such as diet. This is the case for the gene that encodes a liver enzyme called hepatic lipase. Inherit one allele and a person can eat a fatty diet yet have a healthy cholesterol profile.
Inherit a different allele and a slice of chocolate cake or a fatty burger sends LDL up and HDL down—an unhealthy cholesterol profile. Inherited traits are determined by one gene Mendelian or by one or more genes and the environment multifactorial. Even the expression of single genes is affected to some extent by the actions of other genes.
Genetic determinism is the idea that an inherited trait cannot be modified. Genetics is impacting many areas of our lives, from health care choices, to what we eat and wear, to unraveling our pasts and controlling our futures. Thinking about genetics evokes fear, hope, anger, and wonder, depending on context and circumstance. Following are glimpses of applications of genetics that we will explore more fully in subsequent chapters.
This approach, called DNA profiling, has many applications. Forensics Before September 11, , the media reported on DNA profiling also known as DNA fingerprinting rarely, usually to identify plane crash victims or to provide evidence in high-profile criminal cases. After the terrorist attacks, investigators compared DNA sequences in bone and teeth collected from the scenes to hair and skin samples from hairbrushes, toothbrushes, and clothing of missing people, and to DNA samples from relatives.
It was a massive undertaking that would soon be eclipsed by two natural disasters—to identify victims of the tsunami in Asia in and hurricane Katrina in the United States in A more conventional forensic application matches a rare DNA sequence in tissue left at a crime scene to that of a sample from a suspect. This is statistically strong evidence that the accused person was at the crime scene or that someone planted evidence. This is especially helpful when there is no suspect. DNA profiling is used to overturn convictions, too.
Illinois has led the way; there, in , DNA tests exonerated the Ford Heights Four, men convicted of a gang rape and double murder who had spent eighteen years in prison, two of them on death row.
A journalism class at Northwestern University initiated the investigation that gained the men their freedom. The case led to new state laws granting death row inmates new DNA tests if their convictions could have arisen from mistaken identity, or if DNA tests were performed when they were far less accurate.
In , Governor George Ryan was so disturbed by the number of overturned convictions based on DNA evidence that shortly before he left office, he commuted the sentences of everyone on death row to life imprisonment. DNA profiling helps adopted individuals locate blood relatives.
Adopted individuals can provide a DNA sample and search the database by country of origin to find siblings. Rewriting History DNA analysis can help to flesh out details of history. Rumor at the time placed Jefferson near Hemings nine months before each of her seven children was born, and the children themselves claimed to be presidential offspring. The Y chromosome, because it is only in males, passes from father to son. Reaching farther back, DNA profiling can clarify relationships from Biblical times.
Consider a small group of Jewish people, the cohanim, who share distinctive Y chromosome DNA sequences and enjoy special status as priests. By considering the number of DNA differences between cohanim and other Jewish people, how long it takes DNA to mutate, and the average generation time of 25 years, researchers extrapolated that the cohanim Y chromosome pattern originated 2, to 3, years ago—which includes the time when Moses lived.
Researchers looked at them for the telltale gene variants because their customs suggest a Jewish origin—they do not eat pork or hippopotamus , they circumcise their newborn sons, and they celebrate a weekly day of rest figure 1. DNA profiling can trace origins for organisms other than humans. For example, researchers analyzed DNA from the leaves of varieties of wine grapes, in search of the two parental strains that gave rise Figure 1.
After DNA evidence showed that Thomas Jefferson likely fathered a son of his slave, descendants of both sides of the family met. The Lemba, a modern people with dark skin, have the same Y chromosome DNA sequences as the cohanim, a group of Jewish priests. One parent, known already, was the bluish-purple Pinot grape. Thanks to DNA analysis, vintners now know which parental stocks to preserve.
Health Care Looking at disease from a genetic point of view is changing health care. In the past, physicians encountered genetics only as extremely rare disorders caused by single genes. Today, medical science is increasingly recognizing the role that genes play not only in many common conditions, but also in how people react to drugs. Disease is beginning to be seen as the consequence of complex interactions among genes and environmental factors.
In applying genetics to common disorders, it helps to consider how inherited illness caused by a single gene differs from 10 a Gouais blanc and b Pinot noir grapes gave rise to nineteen modern popular wines, including chardonnay. First, we can predict the recurrence risk for singlegene disorders using the laws of inheritance chapter 4 describes.
In contrast, an infectious disease requires that a pathogen pass from one person to another—a much less predictable circumstance. A second key distinction of inherited illness is that the risk of developing symptoms can often be predicted. This is because all genes are present in all cells, even if they are not expressed in every cell. The use of genetic testing to foretell disease is termed predictive medicine.
For example, some women who have lost several young relatives to BRCA1 breast cancer and learn that they have inherited the mutation have their Table 1. Risk can be predicted for family members. Predictive presymptomatic testing may be possible. Different populations may have different characteristic disease frequencies.
Correction of the underlying genetic abnormality may be possible. A medical diagnosis, however, is still based on symptoms or observable pathology, such as abnormal cells. This is because some people who inherit mutations associated with particular symptoms never actually develop them. A third feature of genetic disease is that an inherited disorder may be much more common in some populations than others.
The reason for such disease clustering is that we tend to pick partners in nonrandom ways, keeping mutations in certain populations. So far, tests can identify about 1, single-gene disorders, but each year, only about , people in the United States take these tests.
Many people fear that employers or insurers will discriminate based on the results of genetic tests—or even for taking the tests. Yet millions of people regularly have their cholesterol checked! In the United States, legislation to prevent the misuse of genetic information in the insurance industry has been in development since The Health Insurance Portability and Accountability Act HIPAA stated that genetic information, without symptoms, does not constitute a preexisting condition, and that individuals could not be excluded from group coverage on the basis of a genetic predisposition.
The law did not cover individual insurance policies, nor did it stop insurers from asking people to have genetic tests. In , U. President Bill Clinton issued an executive order prohibiting the federal government from obtaining genetic information for employees or job applicants and from using such information in promotion decisions.
Still, many people continue to fear the misuse of genetic information. Some people take genetic tests under false names or do not allow test results to become part of their medical records or are afraid to participate in clinical trials of new treatments.
Genetic tests may actually, eventually, lower health care costs. If people know their inherited risks, they can forestall or ease symptoms that environmental factors might trigger—for example, by eating healthy foods, not smoking, exercising regularly, avoiding risky behaviors, having frequent medical exams, and beginning treatment earlier.
A few genetic diseases can be treated. Supplying a missing protein can prevent some symptoms, such as providing a clotting factor to a person who has a bleeding disorder. Gene therapy replaces instructions for producing the protein in the cells that are affected in the illness.
To study how this rare disorder unfolds during development, which cannot be done on human embryos and fetuses, researchers used a well-studied roundworm. It has a gene very similar in DNA sequence to the human lissencephaly gene. When mutant, the gene causes worms to have seizures! Agriculture The field of genetics arose from agriculture.
Traditional agriculture is the controlled breeding of plants and animals to select individuals with certain combinations of inherited traits that are useful to us, such as seedless fruits or lean meat. Biotechnology, the use of organisms to produce goods including foods and drugs or services, is an outgrowth of agriculture. One ancient example of biotechnology is using microorganisms to ferment fruits to manufacture alcoholic beverages, a technique the Babylonians used by B.
Traditional agriculture is imprecise because it shuffles many genes—and, therefore, many traits—at a time. In contrast, the application of DNA-based techniques, part of modern biotechnology, enables researchers to manipulate one gene at a time. This adds control and precision that is not part of traditional agriculture.
If the organism has genes from another species, it is termed transgenic. Golden rice, for example, manufactures twenty-three times as much beta carotene a vitamin A precursor as unaltered rice. Golden rice also stores twice as much iron as unaltered rice because one of its own genes is overexpressed.
These nutritional boosts bred into edible rice strains may help prevent vitamin A and iron deficiencies in people who eat them. People in the United States have been safely eating GM foods for more than a decade. In Europe, many people object to GM foods, on ethical grounds or based on fear. A public opinion poll in the United Kingdom discovered, for example, that a major reason citizens avoid GM foods is that they do not want to eat DNA!
One British geneticist wryly observed that the average meal provides , kilometers about 93, miles of DNA. Other concerns about GM organisms may be better founded. Another objection is that field tests may not adequately predict the effects of GM crops on ecosystems. GM plants have been found far beyond where they were planted, thanks to wind pollination. GM crops may also lead to extreme genetic uniformity, which could be disastrous. Some GM organisms, such as fish that grow to twice normal size or can survive at temperature extremes, may be so unusual that they disrupt ecosystems.
Ecology We humans share the planet with many thousands of other species. This information is revealing how species interact, and it may even yield new drugs and reveal novel energy sources. Metagenomics researchers collect and sequence DNA and consult databases of known genes and genomes to imagine what the organisms might be like.
One of the first metagenomics projects discovered and described life in the Sargasso Sea. Artist Alexis Rockman vividly captures some fears of biotechnology, including a pig used to incubate spare parts for sick humans, a muscle-boosted, boxy cow, a featherless chicken with extra wings, a mini-warthog, and a mouse with a human ear growing out of its back.
Many a vessel has been lost in the Sargasso Sea, which includes the area known as the Bermuda Triangle. When researchers sampled the depths, they collected more than a billion DNA bases, representing about 1, microbial species, including at least not seen before. More than a million new genes were discovered. Another metagenomics project is collecting DNA from air samples taken in lower Manhattan.
A favorite site for metagenomics analysis is the human body. The mouth, for example, is home to some species of bacteria, only about of which can grow in the laboratory. In addition to describing the ecosystem of the human mouth, metagenomics yields medically useful information. This was the case for Treponema denticola, which holds a place in medical history as the first microorganism that the father of microscopy, Antonie van Leeuwenhoek, sketched in the s. Its genome revealed how it survives amid the films formed by other bacteria in the mouth, and how it causes gum disease.
Researchers were surprised to find that this 12 microorganism is genetically very different from other spiral-shaped bacteria thought to be close relatives—those that cause syphilis and Lyme disease.
Therefore, genomics showed that appearance a spiral shape does not necessarily reflect the closeness of the evolutionary relationship between two types of organisms. Metagenomic analysis of the human digestive tract is also interesting at its other end. It is difficult to overstate how important it is for the student to achieve a clear understanding of the events in meiosis to provide the foundation for an understanding of the physical basis of Mendelian genetics. The chapter ends with a description of gamete formation.
Similarities and differences between oogenesis and spermatogenesis are presented in text and illustration and summarized in a table. Discrete structures within cells, known as chromosomes, are the cellular structures within which genes reside.
The concepts of mitosis and meiosis as mechanisms of cell growth and organismic reproduction are detailed. An understanding of meiosis is essential for the student to comprehend the physical basis of genetic phenomena, such as segregation and independent assortment that will be covered in the next chapter. By the completion of this chapter, the student should be able to: Cellular Links to Genetic Disease Describe an example of how cell structure and function are influenced by genetic information.
Carbohydrates: Macromolecules including sugars, glycogen, and starches composed of sugar monomers linked and cross-linked together. Nucleic acids: A class of cellular macromolecules composed of nucleotide monomers linked together. There are two types of nucleic acids, deoxyribonucleic acid DNA and ribonucleic acid RNA , which differ in the structure of the monomers.
Endoplasmic reticulum ER : A system of cytoplasmic membranes arranged into sheets and channels whose function it is to synthesize and transport gene products. Golgi complex: Membranous organelles composed of a series of flattened sacs. They sort, modify, and package proteins synthesized in the ER. Mitochondria mitochondrion : Membrane-bound organelles, present in the cytoplasm of all eukaryotic cells, which are the sites of energy production within the cells.
Chromatin: The DNA and protein components of chromosomes, visible as clumps or threads in nuclei. Autosomes: Chromosomes other than the sex chromosomes. In humans, chromosomes 1 to 22 are autosomes. Mitosis: Form of cell division that produces two cells, each of which has the same complement of chromosomes as the parent cell. Prophase: A stage in mitosis during which the chromosomes become visible and contain sister chromatids joined at the centromere.
Chromatid: One of the strands of a duplicated chromosome joined by a single centromere to its sister chromatid. Centromere: A region of a chromosome to which microtubule fibers attach during cell division. The location of a centromere gives a chromosome its characteristic shape.
Sister chromatids: Two chromatids joined by a common centromere. Each chromatid carries identical genetic information. Metaphase: A stage in mitosis during which the chromosomes move and become arranged near the middle of the cell.
Anaphase: A stage in mitosis during which the centromeres split and the daughter chromosomes begin to separate. Telophase: The last stage of mitosis, during which the chromosomes of the daughter cells decondense and the nucleus re-forms. Meiosis: The process of cell division during which one cycle of chromosomal replication is followed by two successive cell divisions to produce four haploid cells.
Diploid 2n : The condition in which each chromosome is represented twice as a member of a homologous pair. Haploid n : The condition in which each chromosome is represented once in an unpaired condition. Homologous chromosomes: Chromosomes that physically associate pair during meiosis. Homologous chromosomes have identical gene loci. Assortment: The result of meiosis I that puts random combinations of maternal and paternal chromosomes into gametes. Allele: One of the possible alternative forms of a gene, usually distinguished from other alleles by its phenotypic effects.
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