Inheritance patterns differ for genes on sex chromosomes (chromosomes X and Y) compared to genes located on autosomes, non-sex chromosomes (chromosomes numbers 1-22). This is due to the fact that, in general, females carry two X chromosomes (XX), while males carry one X and one Y chromosome (XY). Therefore, females carry two copies of each X-linked gene, but males carry only one copy each of X-linked and Y-linked genes. Females carry no copies of Y-linked genes.
Some genetic conditions are caused by variants (also known as mutations) in a single gene. These conditions are usually inherited in one of several patterns, depending on the gene involved:
| Inheritance pattern | Description | Examples |
|---|---|---|
| Autosomal dominant | One altered copy of the gene in each cell is sufficient for a person to be affected by an autosomal dominant disorder. In some cases, an affected person inherits the condition from an affected parent. In others, the condition may result from a new variant in the gene and occur in people with no history of the disorder in their family. | Huntington disease, Marfan syndrome |
| Autosomal recessive | In autosomal recessive inheritance, variants occur in both copies of the gene in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. Autosomal recessive disorders are typically not seen in every generation of an affected family. | cystic fibrosis, sickle cell disease |
| X-linked dominant | X-linked dominant disorders are caused by variants in genes on the X chromosome. In males (who have only one X chromosome), a variant in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a variant in one of the two copies of the gene in each cell is sufficient to cause the disorder. Females may experience less severe symptoms of the disorder than males. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons (no male-to-male transmission). | fragile X syndrome |
| X-linked recessive | X-linked recessive disorders are also caused by variants in genes on the X chromosome. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a variant would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons (no male-to-male transmission). | hemophilia, Fabry disease |
| X-linked | Because the inheritance pattern of many X-linked disorders is not clearly dominant or recessive, some experts suggest that conditions be considered X-linked rather than X-linked dominant or X-linked recessive. X-linked disorders are caused by variants in genes on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), an alteration in the only copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), one altered copy of the gene usually leads to less severe health problems than those in affected males, or it may cause no signs or symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons (no male-to-male transmission). | glucose-6-phosphate-dehydrogenase-deficiency, X-linked thrombocytopenia |
| Y-linked | A condition is considered Y-linked if the altered gene that causes the disorder is located on the Y chromosome, one of the two sex chromosomes in each of a male’s cells. Because only males have a Y chromosome, in Y-linked inheritance, a variant can only be passed from father to son. | Y chromosome infertility, some cases of Swyer syndrome |
| Codominant | In codominant inheritance, two different versions (alleles) of a gene are expressed, and each version makes a slightly different protein. Both alleles influence the genetic trait or determine the characteristics of the genetic condition. | ABO blood group, alpha-1 antitrypsin deficiency |
| Mitochondrial | Mitochondrial inheritance, also known as maternal inheritance, applies to genes in mitochondrial DNA. Mitochondria, which are structures in each cell that convert molecules into energy, each contain a small amount of DNA. Because only egg cells contribute mitochondria to the developing embryo, only females can pass on mitochondrial variants to their children. Conditions resulting from variants in mitochondrial DNA can appear in every generation of a family and can affect both males and females, but fathers do not pass these disorders to their daughters or sons. | Leber hereditary optic neuropathy (LHON) |
| Inheritance Pattern | Disease Examples |
|---|---|
| Autosomal Dominant | Huntington’s disease, neurofibromatosis, achondroplasia, familial hypercholesterolemia |
| Autosomal Recessive | Tay-sachs disease, sickle cell anemia, cystic fibrosis, phenylketonuria (PKU) |
| X-linked Dominant | Hypophatemic rickets (vitamin D-resistant rickets), ornithine transcarbamylase deficiency |
| X-linked Recessive | Hemophilia A, Duchenne muscular dystrophy |
| Mitochondrial | Leber’s hereditary optic neuropathy, Kearns-Sayre syndrome |
Many health conditions are caused by the combined effects of multiple genes (described as polygenic) or by interactions between genes and the environment. Such disorders usually do not follow the patterns of inheritance listed above. Examples of conditions caused by variants in multiple genes or gene/environment interactions include heart disease, type 2 diabetes, schizophrenia, and certain types of cancer. For more information,
Disorders caused by changes in the number or structure of chromosomes also do not follow the straightforward patterns of inheritance listed above. To read about how chromosomal conditions occur,
The Punnett Square Approach for a Monohybrid Cross
A Punnett square applies the rules of probability to predict the possible outcomes of a monohybrid cross and their expected frequencies.
Key Points
Fertilization between two true-breeding parents that differ in only one characteristic is called a monohybrid cross.
For a monohybrid cross of two true-breeding parents, each parent contributes one type of allele resulting in all of the offspring with the same genotype.
A test cross is a way to determine whether an organism that expressed a dominant trait was a heterozygote or a homozygote.
Key Terms
- monohybrid: a hybrid between two species that only have a difference of one gene
- homozygous: of an organism in which both copies of a given gene have the same allele
- heterozygous: of an organism which has two different alleles of a given gene
- Punnett square: a graphical representation used to determine the probability of an offspring expressing a particular genotype
Punnett Square Approach to a Monohybrid Cross
When fertilization occurs between two true-breeding parents that differ in only one characteristic, the process is called a monohybrid cross, and the resulting offspring are monohybrids. Mendel performed seven monohybrid crosses involving contrasting traits for each characteristic. On the basis of his results in F1 and F2 generations, Mendel postulated that each parent in the monohybrid cross contributed one of two paired unit factors to each offspring and that every possible combination of unit factors was equally likely.
To demonstrate a monohybrid cross, consider the case of true-breeding pea plants with yellow versus green pea seeds. The dominant seed color is yellow; therefore, the parental genotypes were YY ( homozygous dominant) for the plants with yellow seeds and yy (homozygous recessive ) for the plants with green seeds, respectively. A Punnett square, devised by the British geneticist Reginald Punnett, can be drawn that applies the rules of probability to predict the possible outcomes of a genetic cross or mating and their expected frequencies.To prepare a Punnett square, all possible combinations of the parental alleles are listed along the top (for one parent) and side (for the other parent) of a grid, representing their meiotic segregation into haploid gametes. Then the combinations of egg and sperm are made in the boxes in the table to show which alleles are combining. Each box then represents the diploid genotype of a zygote, or fertilized egg, that could result from this mating. Because each possibility is equally likely, genotypic ratios can be determined from a Punnett square. If the pattern of inheritance (dominant or recessive) is known, the phenotypic ratios can be inferred as well. For a monohybrid cross of two true-breeding parents, each parent contributes one type of allele. In this case, only one genotype is possible. All offspring are Yy and have yellow seeds.
Punnett square analysis of a monohytbrid cross: In the P generation, pea plants that are true-breeding for the dominant yellow phenotype are crossed with plants with the recessive green phenotype. This cross produces F1 heterozygotes with a yellow phenotype. Punnett square analysis can be used to predict the genotypes of the F2 generation.
A self-cross of one of the Yy heterozygous offspring can be represented in a 2 × 2 Punnett square because each parent can donate one of two different alleles. Therefore, the offspring can potentially have one of four allele combinations: YY, Yy, yY, or yy. Notice that there are two ways to obtain the Yy genotype: a Y from the egg and a y from the sperm, or a y from the egg and a Y from the sperm. Both of these possibilities must be counted. Recall that Mendel’s pea-plant characteristics behaved in the same way in reciprocal crosses. Therefore, the two possible heterozygous combinations produce offspring that are genotypically and phenotypically identical despite their dominant and recessive alleles deriving from different parents. They are grouped together. Because fertilization is a random event, we expect each combination to be equally likely and for the offspring to exhibit a ratio of YY:Yy:yy genotypes of 1:2:1. Furthermore, because the YY and Yy offspring have yellow seeds and are phenotypically identical, applying the sum rule of probability, we expect the offspring to exhibit a phenotypic ratio of 3 yellow:1 green. Indeed, working with large sample sizes, Mendel observed approximately this ratio in every F2 generation resulting from crosses for individual traits.
Beyond predicting the offspring of a cross between known homozygous or heterozygous parents, Mendel also developed a way to determine whether an organism that expressed a dominant trait was a heterozygote or a homozygote. Called the test cross, this technique is still used by plant and animal breeders. In a test cross, the dominant-expressing organism is crossed with an organism that is homozygous recessive for the same characteristic. If the dominant-expressing organism is a homozygote, then all F1 offspring will be heterozygotes expressing the dominant trait. Alternatively, if the dominant expressing organism is a heterozygote, the F1 offspring will exhibit a 1:1 ratio of heterozygotes and recessive homozygotes. The test cross further validates Mendel’s postulate that pairs of unit factors segregate equally.
Example of a test cross: A test cross can be performed to determine whether an organism expressing a dominant trait is a homozygote or a heterozygote.
Phenotypes and Genotypes
The observable traits expressed by an organism are referred to as its phenotype and its underlying genetic makeup is called its genotype.
Key Points
Mendel used pea plants with seven distinct traits or phenotypes to determine the pattern of inheritance and the underlying genotypes.
Mendel found that crossing two purebred pea plants which expressed different traits resulted in an F1 generation where all the pea plants expressed the same trait or phenotype.
When Mendel allowed the F1 plants to self-fertilize, the F2 generation showed two different phenotypes, indicating that the F1 plants had different genotypes.
Key Terms
- phenotype: the appearance of an organism based on a multifactorial combination of genetic traits and environmental factors, especially used in pedigrees
- genotype: the combination of alleles, situated on corresponding chromosomes, that determines a specific trait of an individual, such as “Aa” or “aa”
Phenotypes and Genotypes
The observable traits expressed by an organism are referred to as its phenotype. An organism’s underlying genetic makeup, consisting of both physically visible and non-expressed alleles, is called its genotype. Johann Gregor Mendel’s (1822–1884) hybridization experiments demonstrate the difference between phenotype and genotype.
Mendel crossed or mated two true-breeding (self-pollinating) garden peas, Pisum saivum, by manually transferring pollen from the anther of a mature pea plant of one variety to the stigma of a separate mature pea plant of the second variety. Plants used in first-generation crosses were called P0, or parental generation one, plants. Mendel collected the seeds belonging to the P0 plants that resulted from each cross and grew them the following season. These offspring were called the F1, or the first filial (filial = offspring, daughter or son), generation. Once Mendel examined the characteristics in the F1 generation of plants, he allowed them to self-fertilize naturally. He then collected and grew the seeds from the F1 plants to produce the F2, or second filial, generation.
Mendelian crosses: In one of his experiments on inheritance patterns, Mendel crossed plants that were true-breeding for violet flower color with plants true-breeding for white flower color (the P generation). The resulting hybrids in the F1 generation all had violet flowers. In the F2 generation, approximately three-quarters of the plants had violet flowers, and one-quarter had white flowers.
When true-breeding plants in which one parent had white flowers and one had violet flowers were cross-fertilized, all of the F1 hybrid offspring had violet flowers. That is, the hybrid offspring were phenotypically identical to the true-breeding parent with violet flowers. However, we know that the allele donated by the parent with white flowers was not simply lost because it reappeared in some of the F2 offspring. Therefore, the F1 plants must have been genotypically different from the parent with violet flowers.
In his 1865 publication, Mendel reported the results of his crosses involving seven different phenotypes, each with two contrasting traits. A trait is defined as a variation in the physical appearance of a heritable characteristic. The characteristics included plant height, seed texture, seed color, flower color, pea pod size, pea pod color, and flower position. To fully examine each characteristic, Mendel generated large numbers of F1 and F2 plants, reporting results from 19,959 F2 plants alone. His findings were consistent. First, Mendel confirmed that he had plants that bred true for white or violet flower color. Regardless of how many generations Mendel examined, all self-crossed offspring of parents with white flowers had white flowers, and all self-crossed offspring of parents with violet flowers had violet flowers. In addition, Mendel confirmed that, other than flower color, the pea plants were physically identical.
Mendel’s Model System
The garden pea has several advantageous characteristics that allowed Mendel to develop the laws of modern genetics.
Key Points
Mendel used true-breeding plants in his experiments. These plants, when self-fertilized, always produce offspring with the same phenotype.
Pea plants are easily manipulated, grow in one season, and can be grown in large quantities; these qualities allowed Mendel to conduct methodical, quantitative analyses using large sample sizes.
Based on his experiments with the garden peas, Mendel found that one phenotype was always dominant over another recessive phenotype for the same trait.
Key Terms
- phenotype: the observable characteristics of an organism, often resulting from its genetic information or a combination of genetic information and environmental factors
- genotype: the specific genetic information of a cell or organism, usually a description of the allele or alleles relating to a specific gene.
- true-breeding plant: a plant that always produces offspring of the same phenotype when self-fertilized; one that is homozygous for the trait being followed.
Mendel’s Model System
Mendel’s seminal work was accomplished using the garden pea, Pisum sativum, to study inheritance. Pea plant reproduction is easily manipulated; large quantities of garden peas could be cultivated simultaneously, allowing Mendel to conclude that his results did not occur simply by chance. The garden pea also grows to maturity within one season; several generations could be evaluated over a relatively short time.
Pea plants have both male and female parts and can easily be grown in large numbers. For this reason, garden pea plants can either self-pollinate or cross-pollinate with other pea plants. In the absence of outside manipulation, this species naturally self-fertilizes: ova (the eggs) within individual flowers are fertilized by pollen (containing the sperm cell) from the same flower. The sperm and the eggs that produce the next generation of plants both come from the same parent. What’s more, the flower petals remain sealed tightly until after pollination, preventing pollination from other plants. The result is highly inbred, or “true-breeding,” pea plants. These are plants that always produce offspring that look like the parent. Today, we know that these “true-breeding” plants are homozygous for most traits.
A gardener or researcher, such as Mendel, can cross-pollinate these same plants by manually applying sperm from one plant to the pistil (containing the ova) of another plant. Now the sperm and eggs come from different parent plants. When Mendel cross-pollinated a true-breeding plant that only produced yellow peas with a true-breeding plant that only produced green peas, he found that the first generation of offspring is always all yellow peas. The green pea trait did not show up. However, if this first generation of yellow pea plants were allowed to self-pollinate, the following or second generation had a ratio of 3:1 yellow to green peas.
In this and all the other pea plant traits Mendel followed, one form of the trait was “dominant” over another so it masked the presence of the other “recessive” form in the first generation after cross-breeding two homozygous plants.. Even if the phenotype (visible form) is hidden, the genotype (allele controlling that form of the trait) can be passed on to next generation and produce the recessive form in the second generation. By experimenting with true-breeding pea plants, Mendel avoided the appearance of unexpected (recombinant) traits in offspring that might occur if the plants were not true breeding.
Mendel’s Experiments With Peas: Experimenting with thousands of garden peas, Mendel uncovered the fundamentals of genetics.
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