3: Mendelian Genetics Flashcards
(68 cards)
Inheritance is governed by information stored in discrete unit factors called ______.
genes
Genes are transmitted from generation to generation on vehicles called ______.
chromosomes
Chromosomes, which exist in pairs in ______ organisms, provide the basis of ______.
diploid, biparental inheritance
During gamete formation, chromosomes are distributed according to postulates first described by ______, based on his nineteenth-century research with the ______.
Gregor Mendel, garden pea
Mendelian postulates prescribe that ______ chromosomes ______ from one another and ______ with other segregating homologs during gamete formation.
homologous, segregate, assort independently
Genetic ratios, expressed as ______, are subject to ______ and may be evaluated statistically.
probabilities, chance deviation
The analysis of ______ allows predictions concerning the genetic nature of human traits.
pedigrees
Although inheritance of biological traits has been recognized for thousands of years, the first significant insights into how it takes place only occurred about ______ years ago. In 1866, ______ published the results of a series of experiments that would lay the foundation for the formal discipline of genetics.
150, Gregor Johann Mendel
Mendel’s work went largely unnoticed until the turn of the twentieth century, but eventually, the concept of the ______ as a distinct hereditary unit was established. Since then, the ways in which genes, as segments of ______, are transmitted to offspring and control traits have been clarified. Research continued unabated throughout the twentieth century and into the present—indeed, studies in genetics, most recently at the molecular level, have remained at the forefront of biological research since the early 1900s.
gene, chromosomes
When Mendel began his studies of inheritance using ______, the garden pea, chromosomes and the role and mechanism of meiosis were totally unknown. Nevertheless, he determined that discrete units of inheritance exist and predicted their behavior in the formation of ______. Subsequent investigators, with access to cytological data, were able to relate their own observations of chromosome behavior during meiosis and Mendel’s principles of inheritance. Once this correlation was recognized, Mendel’s postulates were accepted as the basis for the study of what is known as ______— how genes are transmitted from parents to offspring. These principles were derived directly from Mendel’s experimentation.
Pisum sativum, gametes, transmission genetics
Mendel Used a Model Experimental Approach to Study Patterns of Inheritance
Johann Mendel was born in ______ to a peasant family in the Central European village of ______. An excellent student in high school, he studied philosophy for several years afterward and in 1843, taking the name Gregor, was admitted to the ______ in ______, now part of the Czech Republic. In 1849, he was relieved of pastoral duties, and from 1851 to 1853, he attended the ______, where he studied physics and botany. He returned to Brno in 1854, where he taught physics and natural science for the next 16 years. Mendel received support from the monastery for his studies and research throughout his life.
1822, Heinzendorf, Augustinian Monastery of St. Thomas, Brno, University of Vienna
Mendel Used a Model Experimental Approach to Study Patterns of Inheritance
In 1856, Mendel performed his first set of hybridization experiments with the ______, launching the research phase of his career. His experiments continued until 1868, when he was elected abbot of the monastery. Although he retained his interest in genetics, his new responsibilities demanded most of his time. In 1884, Mendel died of a ______ disorder. The local newspaper paid him the following tribute:
His death deprives the poor of a benefactor, and man- kind at large of a man of the noblest character, one who was a warm friend, a promoter of the natural sciences, and an exemplary priest.
garden pea, kidney
Mendel Used a Model Experimental Approach to Study Patterns of Inheritance
Mendel first reported the results of some simple genetic crosses between certain strains of the garden pea in ______. Although his was not the first attempt to provide experimental evidence pertaining to inheritance, Mendel’s success where others had failed can be attributed, at least in part, to his elegant experimental design and analysis.
1865
Mendel Used a Model Experimental Approach to Study Patterns of Inheritance
Mendel showed remarkable insight into the methodology necessary for good experimental biology. First, he chose an organism that was easy to ______ and to ______ artificially. The pea plant is self-fertilizing in nature, but it is easy to cross-breed experimentally. It reproduces well and grows to maturity in a single season. Mendel followed ______ visible features (we refer to them as ______, or ______), each represented by two contrasting forms, or ______. For the character stem height, for example, he experimented with the traits ______ and ______. He selected six other contrasting pairs of traits involving seed shape and color, pod shape and color, and flower color and position. From local seed merchants, Mendel obtained true-breeding strains, those in which each trait appeared unchanged generation after generation in self-fertilizing plants.
grow, hybridize, seven, characters, characteristics, traits, tall, dwarf
Mendel Used a Model Experimental Approach to Study Patterns of Inheritance
There were several other reasons for Mendel’s success. In addition to his choice of a suitable organism, he restricted his examination to one or very few pairs of contrasting traits in each experiment. He also kept accurate ______ records, a necessity in genetic experiments. From the analysis of his data, Mendel derived certain postulates that have become the principles of ______.
quantitative, transmission genetics
Mendel Used a Model Experimental Approach to Study Patterns of Inheritance
The results of Mendel’s experiments went unappreciated until the turn of the century, well after his death. However, once Mendel’s publications were rediscovered by geneticists investigating the function and behavior of chromosomes, the implications of his postulates were immediately apparent. He had discovered the basis for the transmission of ______ traits!
hereditary
The Monohybrid Cross Reveals How One Trait Is Transmitted from Generation to Generation
Mendel’s simplest crosses involved only one pair of contrasting traits. Each such experiment is called a ______.
monohybrid cross
The Monohybrid Cross Reveals How One Trait Is Transmitted from Generation to Generation
A monohybrid cross is made by mating true-breeding individuals from ______ parent strains, each exhibiting one of the two contrasting forms of the character under study. Initially, we examine the first generation of offspring of such a cross, and then we consider the offspring of selfing, that is, of self-fertilization of individuals from this first generation. The original parents constitute the ______, or ______; their offspring are the ______, or ______; the individuals resulting from the selfed F1 generation are the ______, or ______; and so on.
two, P1, parental generation, F1, first filial generation, F2, second filial generation
The Monohybrid Cross Reveals How One Trait Is Transmitted from Generation to Generation
The cross between true-breeding pea plants with tall stems and dwarf stems is representative of Mendel’s ______ crosses. Tall and dwarf are contrasting traits of the character of stem height. Unless tall or dwarf plants are crossed together or with another strain, they will undergo self-fertilization and breed true, producing their respective traits generation after generation. However, when Mendel crossed tall plants with dwarf plants, the resulting F1 generation consisted of only ______ plants. When members of the F1 generation were selfed, Mendel observed that 787 of 1064 F2 plants were tall, while 277 of 1064 were dwarf. Note that in this cross, the ______ trait disappeared in the F1 generation, only to reappear in the F2 generation.
monohybrid, tall, dwarf
The Monohybrid Cross Reveals How One Trait Is Transmitted from Generation to Generation
Genetic data are usually expressed and analyzed as ______. In this particular example, many identical P1 crosses were made and many F1 plants—all tall—were produced. As noted, of the 1064 F2 offspring, 787 were tall and 277 were dwarf—a ratio of approximately 2.8:1.0, or about 3:1.
ratios
The Monohybrid Cross Reveals How One Trait Is Transmitted from Generation to Generation
Mendel made similar crosses between pea plants exhibiting each of the other pairs of contrasting traits; the results of these crosses are shown in Figure 3.1. In every case, the outcome was similar to the tall/dwarf cross just described. For the character of interest, all F1 offspring expressed the same trait exhibited by one of the parents, but in the F2 offspring, an approximate ratio of ______ was obtained. That is, three-fourths looked like the F1 plants, while one-fourth exhibited the contrasting trait, which had disappeared in the F1 generation.
3:1
The Monohybrid Cross Reveals How One Trait Is Transmitted from Generation to Generation
We note one further aspect of Mendel’s monohybrid crosses. In each cross, the F1 and F2 patterns of inheritance were similar regardless of which P1 plant served as the source of ______ and which served as the source of the ______. The crosses could be made either way— pollination of dwarf plants by tall plants, or vice versa. Crosses made in both these ways are called reciprocal crosses. Therefore, the results of Mendel’s monohybrid crosses were not ______ dependent.
pollen (sperm), ovum (egg), sex
The Monohybrid Cross Reveals How One Trait Is Transmitted from Generation to Generation
To explain these results, Mendel proposed the existence of particulate ______ for each trait. He suggested that these factors serve as the basic units of ______ and are passed unchanged from generation to generation, determining various traits expressed by each individual plant. Using these general ideas, Mendel proceeded to hypothesize precisely how such factors could account for the results of the monohybrid crosses.
unit factors, heredity
Mendel’s First Three Postulates:
- UNIT FACTORS IN PAIRS
- DOMINANCE/RECESSIVENESS
- SEGREGATION