If two variants in a population are related by simple Mendelian inheritance, then in principle, it is possible to isolate a gene in which the sequence differences will explain the nature of the variants. In practice, this is a daunting task in a genome the size of human (3000 Mb) and may take many years to achieve. ...
Reviews describing the software available to support genetic linkage analysis have appeared intermittently over the last few years (1,1a). This period has been associated with several significant influences that have made it timely to reconsider the available programs and related ...
The arrival of the second millennium will usher in unsurpassed information and knowledge of our genetic constitution, and will promise to revolutionize basic research and molecular medicine. The road toward a complete understanding of our genetic makeup is largely the fruit of the Human G ...
Other chapters of this volume have presented the various experimental methods (mainly exon trapping and recombination-based and hybridization-based approaches) used for the identification of transcribed sequences within cloned genomic fragments. None of those methods re ...
Genetic disorders follow a classic Mendelian dominant or recessive single-locus pattern of inheritance or a complex genetic pattern (multiple genes and environmental influences). In general, the complexity arises when the simple correspondence between genotype and phenoty ...
The essence of linkage analysis is a deviation from the Mendelian principle of independent, or random, assortment of gene pairs when transmitted from generation to generation. Two genes are said to be completely linked (see Section 4.1. for definitions of genetic terms) when there is no recombi ...
Human-rodent somatic cell hybrids have proven to be a useful tool for mapping expressed gene products (1,2) and, in particular, DNA sequences. The accuracy of the method is dependent on the identification of a species difference between the human and rodent species. This chapter details metho ...
In situ hybridization (ISH) has proven to be a powerful methodological approach to visualize specific nucleic acid sequences directly within the morphological context of the cell. The method involves hybridization of labeled probes to denatured target chromatin that has been fixed on ...
During the past few years, there has been intense activity in physically mapping the genomes of a variety of organisms, including human, mouse, Drosophila, Caenorhabditis elegans, Arabidopsis thaliana, and yeast. The considerable advances made in physically mapping these genomes has ...
The application of cosmids to positional cloning strategies has changed over the last several years (1). Initially, the construction of genome physical maps, for example, in Caenorhadbitis elegans and Arabidopsis (2,3), was attempted using cosmid clones randomly selected and analyz ...
The identification of genes by positional cloning has revolutionized the molecular analysis of disease. Disease-causing genes can now be isolated with no knowledge of the biological function of the molecule involved, relying only on genetic inheritance or chromosomal perturbat ...
Several methods have been developed to enrich DNA for subsets of the genome prior to next-generation sequencing. These front-end enrichment strategies provide powerful and cost-effective tools for researchers interested in collecting large-scale genomic sequence data. In this ...
Sequencing large insert clones to completion is useful for characterizing specific genomic regions, identifying haplotypes, and closing gaps in whole genome sequencing projects. Despite being a standard technique in molecular laboratories, DNA sequencing using the Sanger me ...
Large insert genome libraries have been a core resource required to sequence genomes, analyze haplotypes, and aid gene discovery. While next generation sequencing technologies are revolutionizing the field of genomics, traditional genome libraries will still be required for acc ...
The revolution in molecular techniques over the last 30 years detracted from many traditional cytological techniques for examining basic biological problems. One of these casualties is the preparation of karyotypes and analysis of chromosomal structure, behaviour, and variat ...
With the rapid expansion of whole-genome sequencing and other genomic studies in nonmodel �organisms, there is a growing demand for robust and user-friendly methods for estimating eukaryotic genome sizes across a broad range of taxa. Propidium iodide (PI) staining with flow cytometry is a ...
A variety of applications require the creation of custom-designed plasmids, including transgenic reporters, heterologous gene fusions, and phenotypic rescue plasmids. These plasmids are created traditionally using restriction digests and in vitro ligation reactions, but ...
Cis-regulatory sequences control when, where, and how much genes are transcribed. A better understanding on these elements is a fundamental keystone to better understand development, cell differentiation, and morphogenesis. Several methods based on in silico analysis or ChIP-seq ...
Identifying mechanisms of molecular adaptation can provide important insights into the process of phenotypic evolution, but it can be exceedingly difficult to quantify the phenotypic effects of specific mutational changes. To verify the adaptive significance of genetically b ...
Elucidating the molecular bases by which phenotypic traits have evolved provides a glimpse into the past, allowing the characterization of genetic changes that cumulatively contribute to evolutionary innovations. Historically, much of the experimental attention has been fo ...
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