Tuesday, February 25, 2014

Biometrics Applied to Molecular Analysis in Genetic Diversity




Studies about genetic diversity have been of great importance for the purposes of genetic improvement and to evaluate the impact of human activity on biodiversity. They are equally important in the understanding of the microevolutionary and macroevolutionary mechanisms that act in the diversification of the species, involving population studies, as well as in the optimization of the conservation of genetic diversity. They are also fundamental in understanding how natural populations are structured in time and space and the effects of anthropogenic activities on this structure and, consequently, on their chances of survival and/or extinction. This information provides an aid in finding the genetic losses generated by the isolation of the populations and of the individuals, which will be reflected in future generations, allowing for the establishment of better strategies to increase and preserve species diversity and diversity within the species.



Genetic resources are established by accesses that represent the genetic variability organized in a set of different materials called germplasm. They comprise the diversity of genetic material contained in old, obsolete, traditional, and modern varieties, wild relatives of the target species, wild species and primitive lines, which can be used in the present or in the future, for food, agriculture, and other purposes.


The most important causes of loss of biodiversity and of genetic resources are: the destruction of habitats and natural communities; genetic vulnerability; genetic erosion; and genetic drift. The genetic diversity of the species is an important way to maintain the natural capacity to respond to climatic changes and all types of biotic and abiotic stress. In actuality, there exists great concern in evaluating biodiversity, because of the marked loss of genetic diversity, mostly due to the actions of man, replacing local varieties with modern varieties, hybrids, and, most recently, clones, so that large expanses of area are occupied by one or a few varieties or narrow genetic base.

The loss of this diversity will probably decrease the organisms’ capacity to respond to environmental changes and will eliminate potentially useful biological information, as the genetic diversity of cultivated species and valuable biochemical compounds is still unknown.

In this sense, an important evaluation parameter is the fraction of intrapopulational and interpopulational components of the total genetic variability of a given species. In species with low genetic variability, the component interpopu lational variation can be large, due to local adaptation or simply to divergence as a result of low genetic flux (Frankham et al., 2003). Erosion constitutes the reduction of genetic diversity, with loss of individual genes and of particular combinations of genes (gene pools), like those manifested in locally adapted breeds. It has been reported that only 15 to 30 superior plant species have been responsible for 90% of food grown for human consumption. This situation reflects considerable loss of genetic diversity in plants, which represents genetic erosion over a long period of time. The principal cause of this genetic erosion of the crops is also the replacement of local varieties with exotic species and improved varieties. Thus, breeding programs – responsible for the development of superior varieties based on modern agriculture – are considered the major cause of genetic erosion. Genetic drift is one of the factors that alter gene frequency in the form of dispersion, that is, it has a quantifiable magnitude, but the direction of its action is unpredictable and can either increase or decrease the frequency of a particular allele in the population. This is a stochastic process, acting on the populations, modifying the frequency of those alleles, and, consequently, contributing to the predominance of certain genotypic combinations in the populations. Its effects are manifested more frequently in populations with reduced
effective sizes.
The evaluation of genetic diversity was originally carried out starting with phenotypic information related to morphologic characteristics or agronomic performance. However, the recent advances in molecular biology have opened new perspectives for research in species conservation and for the study of populational biology. With the use of molecular markers, it is possible to detect the existent variability directly in the DNA. Thus, studies about diversity are also distinguished by their goals, which may be targeted for genetic improvement, for evolutionary associations and for the conservation and management of genetic material.

Currently, the analysis of polymorphisms of DNA fragments has been one of the main tools in the study of biodiversity, allowing, as inferred from special distribution patterns of genetic diversity, to test even explicit hypotheses of historic biogeography and define priority areas for conservation. The evaluation of molecular polymorphisms in noncoding regions has provided important information about the various levels of genetic diversity, intra × interpopulational and intra × interspecific. Accordingly, the microsatellites (SSRs), repetitions in tandem of one to six nucleotides, are ideal tools, which are randomly distributed in the genome of most eukaryotic organisms, because they present codominance, a high degree of polymorphism, and are easily detected by PCR (Glowatzki-Mullis et al., 1995).

In a review paper Silva and Russo (2000) grouped the molecular techniques, applied to populational biology, into four main categories:

1.    The first comprises problems related to the analysis of genetic variation within individuals, covering areas such as heteroplasmy (variation evalu ated in the mitochondrial DNA), evolution of multigene families, as well as problems related to forensic medicine.
2.   Included in the second cluster were problems that involve the variation within populations, such as the effect of endogamy and genetic bottlenecking in hereditary variation, consanguinity, nepotism, social structure, and reproductive success.
3.  Clustered into the third category were studies directly related to genetic variation between populations, involving problems like bioinvasion and gene flow, structuring of natural stock in populations of extractive exploitation, as well as problems related to the taxonomic status of morphotypes or ecotypes.
4.    Finally, grouped into the fourth category were the problems that involve the genetic variation above the species level, including the effects of the different life cycles on the process of differentiation and isolation of the species, in the hybridization, and in the establishment of hybrid zones, as well as the phylogenetic reconstruction of the taxa.

It is worth mentioning that the genetic material used in the works with molecular markers is, in the last analysis, a sample of the original population. Consequently, the variability contained within the sample will depend on the polymorphism and the genetic structure existent in the population and on the way in which the sampling was performed (Robinson, 1998). The polymorphism accessed, on the other hand, depends in large part upon the molecular technique adopted. In whatever situation, however, the basic presupposition is that the molecular markers analyzed are inheritable, reproducible, and independent (Silva and Russo, 2000).

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