eChapters

A sample is just a part of a population selected according to some rule or plan. Following are some of the methods of sampling.

1. Simple Random Sampling

The simplest and the most commonly used type of probability sampling is simple random sampling. In this kind of sampling, each member of the population has the same probability of being included in the sample. Simple random sampling may be with or without replacement.

About Mendel

Born in what is now the Czeck Republic.

Grew up in an agricultural environment.

Became a priest-teacher at a local monastery.

Took courses in botany, physics, and mathematics at the University of Vienna.

Gregor Mendel was the first person to comprehend some of the most basic principles of genetics. He reached these understandings in the mid-nineteenth century; working in what is now the Czech Republic and using as his experimental subjects a species of garden pea, Pisum sativum..

Carried out “hybridization” experiments with the common garden pea.

Mendel’s hypotheses became the laws of inheritance in modern genetics.

Mendel’s work re-discovered by Correns, DeVries, and Tschermak in 1900. Period of modern “Mendelian” genetics begin.

When Gene Expression Appears to Alter Mendelian Ratios Lethal Allele Combinations

Us recessive lethal alleles eliminaters a progeny class. Multiple Alleles

A gene can have more than two alleles, but a diploid individual only has one or two of them.

Different allele combinations can produce different phenotypes and different severities of symptoms.

Different Dominance Relationships

Incomplete dominance of an allele produces a phenotype in the heterozygote that is intermediate between that of either homozygote.

Codominant alleles are both expressed in a heterozygote. Epistasis-When One Gene Affects Expression of Another

In epistasis, one gene masks the effect of another. An example of epistasis in humans is the Bombay phenotype.

The Bombay phenotype results in O type blood for individuals homozygous recessive for the recessive “h” allele.

Genetic Transfer and Mapping in Bacteria

Bacteria can transfer genetic material during conjugation

Hfr strains contain an f factor integrated into the bacterial chromosome

Conjugation experiments can be used to map genes along the E. coli chromosome

A detailed genetic map of the E. coli chromosome has been obtained from many conjugation studies

Bacteriophages can also transfer genetic material from one bacterial cell to another in the process of transduction

Cotransduction can be used to map genes that are within 2 minutes of each other

Bacteria can also transfer genetic material by transformation

Horizontal gene transfer is the transfer of genes among different species

Linkage and Crossing Over

Crossing over may produce recombinant phenotypes.

Bateson and Punnett discovered two traits that did not assort independently.

Morgan provided evidence for the linkage of several X-linked genes and proposed that crossing over between X chromosomes can occur.

A chi square analysis can be used to distinguish between linkage and independent assortment.

Creighton and McClintock correlated crossing over that produced new combinations of alleles with the exchange of homologous chromosomes.

Crossing over occasionally occurs during mitosis. Genetic Mapping in Plants and Animals

The frequency of recombination between two genes can be correlated with their map distance along a chromosome

Alfred Sturtevant used the frequency of crossing over in dihybrid crosses to produce the first genetic map.

Trihybrid crosses can be used to determine the order and distance between linked genes.

Interference can influence the number of double crossovers that occur in a short region.

If x and y are related, we can study degree of relationship between them which is called correlation.

Y = f(x)=a+bx where y is a dependent variable and x is an independent variable. If x is known, y can be known.

X = f(y). Here x is a dependent variable and y is an independent variable or auxiliary variable.

One of the most important aspects of describing distribution is the central value around which the observations are distributed. A statistical measure used for representing the centre of central value of a set of observations is known as “Measure of Central Tendency”. This central value is also called as ‘Average’. The commonly used measures of central tendency are as follows;

The measure of scatteredness of observation around their average is necessary to get a better description of data. The extent or degree to which data tend to spread around an average is called Dispersion or Variation. Measure of Dispersion also called the averages of second order; help us to measure the scatteredness of observation around an average. The commonly used measures of dispersion are as follows;

4.1 Diagrammatic Representation of Data

Diagrams are meant only to give a pictorial representation of the data with a view to make them readily intelligible. Several types of diagrams are used for the presentation of data in biological and agriculture sciences. The following are the important types of diagrams in common use :

1. One-dimensional diagrams
2. Two-dimensional diagrams
3. Three-dimensional diagrams

Genetic Transfer and Mapping in Bacteria a

Bacteria can transfer genetic material during conjugation

Hfr strains contain an F factor integrated into the bacterial chromosome

Hfr strains can transfer a portion of the bacterial chromosome to recipient cells

Conjugation experiments can map genes along the E. coli chromosome

A genetic map of the E. coli chromosome has been obtained from many conjugation studies

Bacteria may contain different types of plasmids

Bacteriophages transfer genetic material from one bacterial cell to another via transduction

Cotransduction can be used to map genes that are within 2 minutes of each other

Bacteria can also transfer genetic material by transformation

Bacteria may acquire new genes by horizontal gene transfer

Portrait of a Chromosome

• Cytogenetics is the study of chromosome abnormalities and associated effects on health or other traits.
• Excess or deficient genetic material can cause syndromes or end prenatal development.
• Chromosomes consist of highly coiled DNA, RNA, histones, and nonhistone proteins.

Telomeres and Centromeres are Essential

Telomeres consist of repeat sequences and protect chromosome tips.

A centromere is a constricted site where spindle fibers attach during cell division.

Centromeres are regions of repeated DNA bound to centromere-associated proteins.

Variation in Chromosome Structure

Natural variation exists in chromosome structure

Changes in chromosome structure include deletions, duplications, inversions, and translocations

The loss of genetic material in a deletion tends to be detrimental to an organism

Duplications tend to be less harmful than deletions

Duplications provide additional material for gene evolution, sometimes leading to the formation of gene families

Copy number variation is relatively common among members of the same species

Comparative genomic hybridization is used to detect chromosome deletions and duplications

Inversions often occur without phenotypic consequences

Inversion heterozygotes may produce abnormal chromosomes due to crossing over

Translocations involve exchanges between different chromosomes

Individuals with reciprocal translocations may produce abnormal gametes due to the segregation of chromosomes

Identification of DNA as the Genetic Material

Experiments with pneumococcus suggested that DNA is the genetic material

Hershey and Chase provided evidence that the genetic material injected into the bacterial cytoplasm is T2 phage DNA

RNA functions as the genetic material in some viruses Work Before Watson and Crick

Nucleotides are the building blocks of nucleic acids

Nucleotides are linked together to form a strand

In 1869, Miescher first isolated DNA and named it “nuclein.”

In 1902, Archibald Garrod linked heredity to enzyme (protein) defects. In 1909 he published a book entitled “Inborn Errors of Metabolism.”

In 1928, Griffith identified a “transforming factor” that transmitted infectiousness in bacteria.

In 1944, Avery, MacLeod and McCarty showed that the transforming factor was DNA)

In 1950, Hershey and Chase, using their famous “blender” experiment, confirmed that DNA, not protein, is the genetic material.

The work of chemist Phoebus Levene showed that DNA includes deoxyribose, nitrogenous bases, and phosphates, in equal proportions.

Chargaff s data showed that the number of purines equals the number of pyrimidines.

Using Rosalind Franklin’s X-ray diffraction patterns, Watson and Crick deduced that DNA is a double helix

5.1 Graphical Representation of Data

Diagrams are generally useful for the purpose of publicity and propaganda. No statistical conclusion can be drowning as these provide only an approximate and rough expression about the phenomenon. Thus for a more rigorous and improved representation of numerical statements graphs and charts are used.

Graphs are generally drawn with the help of two perpendicular lines known as x-axis and y-axis. The following are the various types of graphs, which are in common use:

6.1 Correlation

The term correlation indicates the relationship between two such variables in which with changes in the values of one variable, the values of the other variable also change. In short, the tendency of simultaneous variation between two variables is called correlation.

8.1 Introduction

The normal distribution was discovered by De Moivre in the year 1733. Normal distribution is probably the most important of all theoretical distributions for the reason that so many physical measurements and natural phenomena have observed frequency distributions which very closely resemble the normal distribution.

9.1 Introduction

The tests used to ascertain whether the differences between estimator and the parameter or between two estimators are real or due to chance are called tests of hypothesis or tests of significance. In other words, the procedures, which enable us to decide whether to accept or reject hypothesis, are called tests of hypothesis or tests of significance. The following terms are commonly used in testing of hypothesis

Overview of Transcription

Gene expression requires base sequences that perform different functional roles

The three stages of transcription are initiation, elongation, and termination

RNA transcripts have different functions Transcription in Bacteria

A promoter is a short sequence of DNA that is necessary to initiate transcription

Bacterial transcription is initiated when RNA polymerase holoenzyme binds at a promoter sequence

The RNA transcript is synthesized during the elongation stage

Transcription is terminated by either an RNA-binding protein or an intrinsic terminator

The Genetic Basis for Protein Synthesis

Archibald Garrod proposed that some genes code for the production of a single enzyme

Beadle and Tatum’s experiments with Neurospora led them to propose the one gene-one enzyme hypothesis

During translation, the genetic code within mRNA is used to make a polypeptide with a specific amino acid sequence

Exceptions to the genetic code are known to occur, which include the incorporation of selenocysteine and pyrrolysine into polypeptides

Synthetic RNA helped to decipher the genetic code

The use of RNA copolymers and the triplet binding assay also helped to crack the genetic code

A polypeptide chain has directionality from its amino terminal to its carboxyl terminal end

The amino acid sequences of polypeptides determine the structure and function of proteins

Cellular proteins are primarily responsible for the characteristics of living cells and an organism’s traits

General Effect of Mutation

Gene mutations are molecular changes in the DNA sequence of a gene

Gene mutations can alter the coding sequence within a gene

Gene mutations are also given names that describe how they affect the wild-type genotype and phenotype

Gene mutations can occur outside of the coding sequence and still influence gene expression

DNA sequences known as trinucleotide repeats may cause mutation

Changes in chromosome structure can affect the expression of a gene

Mutations can occur in germ line or somatic cells