It was not until the mid-nineteenth century that Gregor It was not until the mid-nineteenth century that Gregor Mendel, an Austrian monk, carried out important studies Mendel, an Austrian monk, carried out important studies

of heredityof heredity——the passing on of characteristics from the passing on of characteristics from parents to offspring.parents to offspring.

Characteristics that are inherited are called traits.Characteristics that are inherited are called traits.Mendel was the first person to succeed in predicting how Mendel was the first person to succeed in predicting how

traits are transferred from one generation to the next.traits are transferred from one generation to the next.A complete explanation requires the careful study of A complete explanation requires the careful study of geneticsgenetics——the branch of biology that studies heredity.the branch of biology that studies heredity.

Mendel chose to use the garden pea in his experiments Mendel chose to use the garden pea in his experiments for several reasons.for several reasons.

Garden pea plants reproduce sexually, which Garden pea plants reproduce sexually, which means that they produce male and female sex means that they produce male and female sex cells, called gametes.cells, called gametes.The male gamete forms in the pollen grain, The male gamete forms in the pollen grain, which is produced in the male reproductive which is produced in the male reproductive organ.organ.The female gamete forms in the female The female gamete forms in the female reproductive organ.reproductive organ.In a process called fertilization, the male gamete In a process called fertilization, the male gamete unites with the female gamete.unites with the female gamete.The resulting fertilized cell, called a zygote (ZI The resulting fertilized cell, called a zygote (ZI goht), then develops into a seed.goht), then develops into a seed.The transfer of pollen grains from a male The transfer of pollen grains from a male reproductive organ to a female reproductive reproductive organ to a female reproductive organ in a plant is called pollination.organ in a plant is called pollination.

Mendel’s Monohybrid CrossesMendel’s Monohybrid CrossesA hybrid is the offspring of parents that have different forms of a A hybrid is the offspring of parents that have different forms of a trait, such as tall and short height.trait, such as tall and short height.Mendel’s first experiments are called monohybrid crosses because Mendel’s first experiments are called monohybrid crosses because mono mono means “one” and the two parent plants differed from each means “one” and the two parent plants differed from each other by a single trait—height.other by a single trait—height.The original parents, the true-breeding plants, are known as the P1 The original parents, the true-breeding plants, are known as the P1 generation.generation.The offspring of the parent plants are known as the F1 generationThe offspring of the parent plants are known as the F1 generationWhen you cross two F1 plants with each other, their offspring are When you cross two F1 plants with each other, their offspring are the F2 generation.the F2 generation.Mendel concluded that each organism has two factors that control Mendel concluded that each organism has two factors that control each of its traits.each of its traits.We now know that these factors are genes and that they are located We now know that these factors are genes and that they are located on chromosomes.on chromosomes.Genes exist in alternative forms. We call these different gene forms Genes exist in alternative forms. We call these different gene forms alleles.alleles.An organism’s two alleles are located on different copies of a An organism’s two alleles are located on different copies of a chromosome—one inherited from the female parent and one from chromosome—one inherited from the female parent and one from the male parent.the male parent.

The rule of dominanceThe rule of dominance

Mendel called the observed trait dominant and Mendel called the observed trait dominant and the trait that disappeared recessive. the trait that disappeared recessive.

Mendel concluded that the allele for tall plants is Mendel concluded that the allele for tall plants is dominant to the allele for short plants. dominant to the allele for short plants.

When recording the results of crosses, it is When recording the results of crosses, it is customary to use the same letter for different customary to use the same letter for different alleles of the same genealleles of the same gene

An uppercase letter is used for the dominant An uppercase letter is used for the dominant allele and a lowercase letter for the recessive allele and a lowercase letter for the recessive allele. allele.

The dominant allele is always written first. The dominant allele is always written first.

The law of segregationThe law of segregation

The law of segregation states that every The law of segregation states that every individual has two alleles of each gene individual has two alleles of each gene and when gametes are produced, each and when gametes are produced, each gamete receives one of these alleles. gamete receives one of these alleles.

During fertilization, these gametes During fertilization, these gametes randomly pair to produce four randomly pair to produce four combinations of alleles. combinations of alleles.

Phenotypes and GenotypesPhenotypes and GenotypesThe way an organism looks and behaves is called its The way an organism looks and behaves is called its phenotypephenotypeThe allele combination an organism contains is known as The allele combination an organism contains is known as its genotype. its genotype. An organism’s genotype can’t always be known by its An organism’s genotype can’t always be known by its phenotype. phenotype. An organism is homozygous for a trait if its two alleles for An organism is homozygous for a trait if its two alleles for the trait are the same. the trait are the same. The true-breeding tall plant that had two alleles for The true-breeding tall plant that had two alleles for tallness tallness (TT) (TT) would be homozygous for the trait of height. would be homozygous for the trait of height. An organism is heterozygous for a trait if its two alleles An organism is heterozygous for a trait if its two alleles for the trait differ from each other. for the trait differ from each other. Therefore, the tall plant that had one allele for tallness Therefore, the tall plant that had one allele for tallness and one allele for shortness and one allele for shortness (Tt)(Tt) is heterozygous for the is heterozygous for the trait of height. trait of height.

The law of independent assortmentThe law of independent assortment

Mendel’s second law states that genes for Mendel’s second law states that genes for different traits—for example, seed shape different traits—for example, seed shape and seed color—are inherited and seed color—are inherited independently of each otherindependently of each other

This conclusion is known as the law of This conclusion is known as the law of independent assortment. independent assortment.

Punnett SquaresPunnett Squares

If you know the genotypes of the parents, If you know the genotypes of the parents, you can use a Punnett square to predict you can use a Punnett square to predict the possible genotypes of their offspring. the possible genotypes of their offspring.

Pedigrees illustrate inheritancePedigrees illustrate inheritance

A pedigree is a graphic representation of A pedigree is a graphic representation of genetic inheritance.genetic inheritance.

A half-shaded circle or square represents A half-shaded circle or square represents a carrier, a heterozygous individual.a carrier, a heterozygous individual.

Simple Recessive HereditySimple Recessive HeredityMost genetic disorders are caused by recessive Most genetic disorders are caused by recessive alleles.alleles.Cystic fibrosisCystic fibrosisCystic fibrosis (CF) is a fairly common genetic Cystic fibrosis (CF) is a fairly common genetic disorder among white Americans.disorder among white Americans.Approximately one in 28 white Americans carries Approximately one in 28 white Americans carries the recessive allele, and one in 2500 children the recessive allele, and one in 2500 children born to white Americans inherits the disorder.born to white Americans inherits the disorder.Due to a defective protein in the plasma Due to a defective protein in the plasma membrane, cystic fibrosis results in the membrane, cystic fibrosis results in the formation and accumulation of thick mucus in formation and accumulation of thick mucus in the lungs and digestive tract.the lungs and digestive tract.

Tay-Sachs diseaseTay-Sachs disease

Tay-Sachs (tay saks) disease is a Tay-Sachs (tay saks) disease is a recessive disorder of the central nervous recessive disorder of the central nervous system.system.

In this disorder, a recessive allele results In this disorder, a recessive allele results in the absence of an enzyme that normally in the absence of an enzyme that normally breaks down a lipid produced and stored breaks down a lipid produced and stored in tissues of the central nervous system.in tissues of the central nervous system.

Because this lipid fails to break down Because this lipid fails to break down properly, it accumulates in the cells.properly, it accumulates in the cells.

PhenylketonuriaPhenylketonuriaPhenylketonuria (fen ul kee tun YOO ree uh), also called Phenylketonuria (fen ul kee tun YOO ree uh), also called (PKU), is a recessive disorder that results from the (PKU), is a recessive disorder that results from the absence of an enzyme that converts one amino acid, absence of an enzyme that converts one amino acid, phenylalanine, to a different amino acid, tyrosine.phenylalanine, to a different amino acid, tyrosine.Because phenylalanine cannot be broken down, it and its Because phenylalanine cannot be broken down, it and its by-products accumulate in the body and result in severe by-products accumulate in the body and result in severe damage to the central nervous systemdamage to the central nervous systemA PKU test is normally performed on all infants a few A PKU test is normally performed on all infants a few days after birth.days after birth.Infants affected by PKU are given a diet that is low in Infants affected by PKU are given a diet that is low in phenylalanine until their brains are fully developed.phenylalanine until their brains are fully developed.Ironically, the success of treating phenylketonuria infants Ironically, the success of treating phenylketonuria infants has resulted in a new problem.has resulted in a new problem.If a female who is homozygous recessive for PKU If a female who is homozygous recessive for PKU becomes pregnant, the high phenylalanine levels in her becomes pregnant, the high phenylalanine levels in her blood can damage her fetusblood can damage her fetus——the developing baby.the developing baby.

Huntington’s diseaseHuntington’s diseaseHuntington’s disease is a lethal genetic disorder Huntington’s disease is a lethal genetic disorder caused by a rare dominant allele.caused by a rare dominant allele.It results in a breakdown of certain areas of the It results in a breakdown of certain areas of the brain.brain.Ordinarily, a dominant allele with such severe Ordinarily, a dominant allele with such severe effects would result in death before the affected effects would result in death before the affected individual could have children and pass the individual could have children and pass the allele on to the next generation.allele on to the next generation.But because the onset of Huntington’s disease But because the onset of Huntington’s disease usually occurs between the ages of 30 and 50, usually occurs between the ages of 30 and 50, an individual may already have had children an individual may already have had children before knowing whether he or she is affected.before knowing whether he or she is affected.