Biological Science

VII. Genetics A. Definition of Genetics Genetics is the study of heredity and variations. Heredity is the transfer of traits from parents to offsprings. Variations are the differences existing between individuals. B. Johann Mendels Life Story Johann Mendel is known today as the Father of Genetics. He is an Austrian and he was born in 1822. The place where he was born is part now of the Czech Republic. Johann Mendel did not come from a rich family. He came from family of farmers. In his childhood, he experienced a lot of financial hardships and health problems. Upon finishing his high school, he entered a monastery where he was renamed as Gregor. After studying theology, he was assigned by his monastery as a temporary teacher. However, he was not able to pass the teachers exam. Later, he was sent by his monastery to University of Vienna to learn more. There, he met Prof. Doppler and Prof. Unger. These two professors influenced much the way of thinking of Mendel. Mendel learned from Prof. Doppler the use of Mathematics in explaining natural phenomena. On the other hand, Prof. Unger is the one who aroused the interest of Mendel in studying the variations among plants. Upon finishing his studies in University of Vienna, he was assigned to Brnn Modern School. Aside from teaching, he did researches. There, he was able to develop the two famous principles of heredity. C. Mendelian Principles of Heredity The two principles of heredity that Mendel was able to develop are the Principle of Segregation and Principle of Independent Assortment. In these principles, based on his observations, he assumed that: 1. The genes in DNA that control the traits of organisms exist in different forms. These forms are now known as alleles. For example, instead of just having one form of gene for seed color of pea plants, there are forms of genes for seed color of pea plants. There is an allele for yellow seed and there is an allele for green seed. 2. Both the male parent and female parent contribute to the alleles of their offspring. An organism has two alleles for each trait. One is from the male parent and one is from the female parent. 3. An allele is either dominant or recessive. Whenever dominant allele is present, it will be the one which will be expressed. (In Genetics, alleles are represented by the first letter of the dominant allele. The letter symbolizing the dominant allele is capitalized while the letter symbolizing the recessive allele remains is being written using lower case.) For example: Seed color of pea plants Dominant allele: allele for yellow seed (Y) Recessive allele: allele for green seed (y) Situations: 1. YY the seeds of the pea plant will be yellow 2. Yy the seeds of the pea plant will be yellow too 3. yy the seed of the pea plant will be green Based on Principle of Segregation, the alleles of a gene for particular trait are being separated from each other during gamete or sex cell formation (meiosis). For example, if a pea plant has the genetic composition Yy, during meiosis, Y will be separated from y. One sex cell may have Y or one sex cell may have y but not both Y and y. Based on the Principle of Independent Assortment, the alleles of different genes for different traits combine with each other by chance or without any pattern during gamete or sex cell formation (meiosis). For example: Seed color of pea plants (Y-yellow versus y-green) Seed shape of pea plants (R-round versus r-wrinkled)

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Flower color of pea plants (P-purple versus p-white) The alleles for seed color, seed shape, and flower color of pea plants may form different combinations by chance during meiosis. Dominant alleles may or may not be together. Recessive alleles may or may not be together. Dominant and recessive alleles may or may not be combined. The following combinations in sex cells may be formed: YRP, yRP, YrP, YRp, yrP, Yrp, yRp, yrp D. Determination of Probability of Having an Offspring with Particular Trait(s) Considering the concepts from the two Mendelian Principles of Heredity, one can determine the probability or chance of having a particular organism with particular set of traits. Examples: Situation 1 Given: Rr x rr (round x wrinkled) Find: Chance of having an offspring pea plant with round seeds Solution: via the use of Punnett Square (a table being used in Genetics to determine the possible traits of offsprings of two parents) R Rr (roun d) r Rr (roun d) r r rr (wrinkl ed) rr (wrinkl ed)
Ratio of probable genetic compositions is 2Rr:2rr or 1Rr:1rr Ratio of probable traits is 1round:1wrinkled Chance of having an offspring with round seeds = or 50%

Situation 2 Given: RrYy x RrYy (round/yellow x round/yellow) Find: Chance of having an offspring pea plant with wrinkled and green seeds Solution: via the use of Punnett Square R Y R y rY ry RY RRYY (round/yel low) RRYy (round/yel low) RrYY (round/yel low) RrYy (round/yel low)

Ry RRYy (round/yel low) RRyy (round/gr een) RrYy (round/yel low) Rryy (round/gr een)

rY RrYY (round/yello w) RrYy (round/yello w) rrYY (wrinkled/ye llow) rrYy (wrinkled/ye llow)

ry RrYy (round/yello w) Rryy (round/gree n) rrYy (wrinkled/ye llow) rryy (wrinkled/gr een)

Ratio of probable genetic compositions is 1RRYY: 2RRYy: 2RrYY: 1RRyy: 4RrYy: 1rrYY: 2Rryy: 2rrYy: 1rryy Ratio of probable traits is 9round/yellow: 3round/green: 3wrinkled/yellow: 1wrinkled/green Chance of having an offspring with wrinkled and green seeds = 1/16 or 6.25%

Situation 2 (Additional Technique Only) Given: RrYy x RrYy (round/yellow x round/yellow) Find: Chance of having an offspring pea plant with wrinkled and green seeds

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Biological Science
Solution: via the use of Branching Method 1. Consider each gene first: Rr x Rr ------> 1RR:2Rr:1rr Yy x Yy -----> 1YY:2Yy:1yy 2. Do the branching:

1RR

1YY 2Yy 1yy 1YY 2Yy 1yy 1YY 2Yy 1yy

1RRYY (round/yellow) 2RRYy (round/yellow) 1RRyy (round/green) 2RrYY (round/yellow) 4RrYy (round/yellow) 2Rryy (round/green) 1rrYY (wrinkled/yellow) 2rrYy (wrinkled/yellow) 1rryy (wrinkled/green)

2Rr

1rr

3. Computation: Chance of having an offspring with wrinkled and green seeds = 1/16 or (1/16 x 100% = 6.25%) E. Additional Notes 1. Non-Mendelian Traits The two Mendelian Principles of Heredity are, indeed, helpful in determining the probability of having an offspring with particular traits. However, these two principles do not work for all traits. Some traits are following these principles and are being called as Mendelian Traits. Some traits are not following these principles and are being called as Non-Mendelian Traits. Through experiments, one can determine which traits are Mendelian and which traits are Non-Mendelian. 2. Other Modes of Inheritance Non-Mendelian traits exist because they do not follow the assumptions Gregor Mendel used in his principles. There are traits that are not only being controlled by two alleles. Some are controlled by more than two alleles. In fact, in more complicated situations, the alleles of a gene may be influenced by the alleles of other genes. Also, some traits do not allow the complete expression of the dominant allele. Lastly, among plants and animals, some alleles are only coming from the mother or female parent. During fertilization, only the nucleus is being contributed by the sex cell of the father/male parent. On the other hand, the whole cell is being contributed by the sex cell of the mother/female parent. Chloroplasts and/or mitochondria that are located in cytoplasm are said to have their own DNA. Thus, if only the mother/female parent contributes its cytoplasm, then, the DNA of the father/male parent in its chloroplasts and/or mitochondria are not being passed to the offspring. 3. Other Factors that Cause Variations Genes in DNA are, indeed, the units of heredity. However, the traits that they are coding will only be observable once they are expressed. Possession of a gene is different from expression of a gene. Even if one has a gene for particular trait if it will not be expressed it will not be observed. One reason why a gene is not being expressed is that that gene might be a recessive allele or an allele being covered by other alleles. Another possible reason is that

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Biological Science
that gene is being expressed with high influence of the environment. An environmental factor may be internal or external. Internal factors are those that are dependent to the organism such as age and sex. External factors are those that are independent from the organism such as its temperature, its exposure to light, its nutrition, and its extent of fetus-mother relation. Even if two individuals have the same genetic composition, if they will be exposed to different environment, there will still be the chance that they will have contrasting characteristics being expressed. In addition, in other situations, related organisms become different from each other because of mutation. Mutation is the change in genetic composition because of radiation or chemical. Mutation can be beneficial or harmful. If it will add advantageous trait to an individual or if it will remove a disadvantageous trait from an individual, it will be beneficial. However, if it will remove an advantageous trait from an individual or if it will add disadvantageous trait to an individual, it will be harmful. Some mutations may not cause detectable changes. Some mutations may result to death. 4. Trivia Criminality and having high blood pressure are indeed traits and, thus, heritable but their expression is mainly triggered by the environment. Hair color, eye color, feeblemindedness, and having schizophrenia are traits that are being expressed with less influence of the environment. Below are some of traits with measured heritability. Traits Math Apt Science Apt Being Hardworker/Achieve r Being Imaginative Tendency to Have Divorce Spelling Skill Verbal Apt Weight Intelligence Quotient (IQ) Stature/Height Heritabilit y (%) 12 34 50 50 52 53 68 78 80 81

Note: Heritability is the measurement of resemblance between relatives. If heritability of a trait is less than 50%, it means that this trait can be influenced more by the environment. Otherwise, the trait is being influenced more by the gene composition of the organism. For example, if you are having a problem in learning Math, it is not because of the gene(s) dictating the Math Apt that you have inherited from your parents. Rather, it is because of you or of your teacher or of both of you. Hence, if you are good in Math, big part of it is because of your effort and/or the teaching skill of your Math teacher or of both. On the other hand, if you became fat, there is the possibility that it is not only because of your eating habits but also because of the genes from your father or mother or from both of them. Similarly, if you cannot gain additional weight anymore despite of eating more, having small body built is already part of your nature.

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