Biochemical Genetics

About: Biochemical Genetics is a research topic. Over the lifetime, 269 publications have been published within this topic receiving 15406 citations.

Human biochemical genetics

Abstract: So far in this course we have dealt entirely with the evolution of characters that are controlled by simple Mendelian inheritance at a single locus. There are notes on the course website about gametic disequilibrium and how allele frequencies change at two loci simultaneously, but we didn’t discuss them. In every example we’ve considered we’ve imagined that we could understand something about evolution by examining the evolution of a single gene. That’s the domain of classical population genetics. For the next few weeks we’re going to be exploring a field that’s actually older than classical population genetics, although the approach we’ll be taking to it involves the use of population genetic machinery. If you know a little about the history of evolutionary biology, you may know that after the rediscovery of Mendel’s work in 1900 there was a heated debate between the “biometricians” (e.g., Galton and Pearson) and the “Mendelians” (e.g., de Vries, Correns, Bateson, and Morgan). Biometricians asserted that the really important variation in evolution didn’t follow Mendelian rules. Height, weight, skin color, and similar traits seemed to

Techniques in diagnostic human biochemical genetics : a laboratory manual

Abstract: Basic Laboratory Principles Statistical Considerations in the Genetic Interpretation of Biochemical Tests Transmitting Genetic Information Data Management - A LIMS for the Biochemical Genetics Laboratory General Metabolic Screening Tests Monosaccharides and Disaccharides Amino Acid Analysis of Physiological Samples Organic Acid Analysis Measurement of Saturated Very Long Chain Fatty Acids in Plasma Urinary Oligosaccharides Galactose Metabolites and Disorders of Galactose Metabolism Determination of Carnitine Oxalic Acid in Plasma and Urine Pterins Determination of Protein Polymorphism of Apolipoproteins Detection of Hemoglobinopathies Screening for Lysosomal Disorders.

Forty years of genetics with Streptomyces: from in vivo through in vitro to in silico.

Abstract: As an undergraduate at Cambridge in the early 1950s, I had found genetics the most exciting part of my courses. This was the main motivation for choosing Botany as my Part II (final year) option in the academic year 1953}54. Granted, there was the Department of Genetics at Cambridge, headed by none other than Ronald Fisher, the father of biological statistics and a true genius, but an advanced qualification in mathematics was a de facto entry ticket to Part II Genetics, reflecting the strong mathematical basis of research in that Department. In the Botany School, ‘biochemical genetics ’ was being studied – using Neurospora crassa – by Harold Whitehouse and Lewis Frost. During the Part II course in Botany, they far-sightedly emphasized the power and promise of microbial genetics for the future understanding of gene structure and function. In choosing a PhD project to start in October 1954 I heeded their advice. One of the topics on offer was Streptomyces. Here was a group of microbes apparently ‘ intermediate between bacteria and fungi ’, and so they could not fail to be interesting from a genetic point of view, given the clear differences that were emerging between the genetics of the few bacteria so far studied and the genetics of fungi and higher organisms. In the Pneumococcus, Escherichia coli and Salmonella typhimurium, incomplete genomes were transferred from donor to recipient strains, by any of three bizarre processes (transformation, conjugation and transduction), to yield incomplete zygotes, whereas in fungi and higher organisms (except those that were asexual) life cycles, including a complete diploid stage and meiosis, were the rule.