Detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III)

CHAPTER 24 – Evolution of Protein Molecules

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

Human biochemical genetics

I have developed "tennis elbow" from lugging this book around the past four weeks, but it is worth the pain, the effort, and the aspirin. It is also worth the (relatively speaking) bargain price. Including appendixes, this book contains 894 pages of text. The entire panorama of the neural sciences is surveyed and examined, and it is comprehensive in its scope, from genomes to social behaviors. The editors explicitly state that the book is designed as "an introductory text for students of biology, behavior, and medicine," but it is hard to imagine any audience, interested in any fragment of neuroscience at any level of sophistication, that would not enjoy this book. The editors have done a masterful job of weaving together the biologic, the behavioral, and the clinical sciences into a single tapestry in which everyone from the molecular biologist to the practicing psychiatrist can find and appreciate his or

Principles of Neural Science

Appendix I: List of Statistical Fact Sheets. URL: http://www.americanheart.org/presenter.jhtml?identifier=2007

We wish to thank Drs Brian Eigel and Michael Wolz for their valuable comments and contributions. We would like to acknowledge Tim Anderson and Tom Schneider for their editorial contributions and Karen Modesitt for her administrative assistance.

Disclosures 



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# Summary {#article-title-2}

Each year, the American Heart Association, in conjunction with the Centers for Disease Control and Prevention, the National Institutes of Health, and other government agencies, brings together the most up-to-date statistics on heart disease, stroke, other vascular diseases, and their risk factors and presents them in its Heart Disease and Stroke Statistical Update. The Statistical Update is a valuable resource for researchers, clinicians, healthcare policy makers, media professionals, the lay public, and many others who seek the best national data available on disease …

Heart Disease and Stroke Statistics—2010 Update A Report From the American Heart Association

The chromosome theory of Mendelian inheritance was launched in 1902 by Sutton and Boveri. In the same year Garrod, establishing the autosomal-recessive mode of inheritance for alkaptonuria and commenting on metabolic individuality in general, created the paradigm of “inborn errors of metabolism.” Simple modes of inheritance were soon established for many other human disorders. A few years later Bridges (1916) [10] examined in Drosophila the first case of a disturbance in chromosome distribution during meiosis and named it “nondisjunction.” Cytogenetics of animals and plants flourished during the first half of the century, and almost all important phenomena in the field of cytogenetics were discovered during this period. Moreover, cytogenetic methods helped to elucidate many basic laws of mutation.

The Human Genome: Chromosomes

In Reply. —In response to Dr Bostom, we did state that vitamins B 12 , B 6 , and folic acid regulate plasma homocysteine levels, and we summarized and included PML studies in our meta-analysis. Although the ORs for elevated PML homocysteine tended to be higher than those for elevated fasting homocysteine, our analysis (p 1050, Table 1, and Figure 1) showed little difference in the pooled ORs for coronary and cerebrovascular diseases with inclusion or omission of the PML data (OR, 1.7 vs 1.8 for coronary artery disease; OR, 2.5 vs 2.3 for cerebrovascular disease). Increasing folic acid intake directly and independently reduces fasting plasma total homocysteine; such folic acid effects are stronger and more consistent than those of vitamin B 12 or vitamin B 6 . 1 We stated that vitamin B 6 can reduce elevated homocysteine PML. Different treatment for different patterns of elevated homocysteine deserves further investigation. On a

Folic Acid Fortification of Food-Reply

Eight enzymes: phosphoglycerate kinase, soluble glutamic oxaloacetic transaminase, glutamic-pyruvic transaminase, isocitric dehydrogenase, adenosine deaminase, peptidase A, peptidase B, and “indophenol oxidase” were examined electrophoretically in red cells from 160 Taiwanese samples. Only GPT and ADA were found to exhibit polymorphism, the gene frequency for GPT1 and ADA1 being about 0.51 and 0.95 respectively. No S-GOT variation was identified in this particular population, although an atypical gene frequency of 0.02 was anticipated from prior surveys of Asiatic groups. These samples were collected in 1960 and preserved in glycerol indicating that meaningful results can be obtained on specimens stored for prolonged periods.

Some red cell enzyme phenotype frequencies in Chinese.

The relationship between molecular structure of the visual pigment genes and red-green color vision was studied in 126 normal and 63 color-defective males. We found that the great majority of defects in red-green color vision are associated with the formation of 5′R-G hybrid genes (protan series), deletion of the G gene (deutan series), or the formation of 5′R-G hybrid genes (deutan series). Within these two series, however, dichromacy and trichromacy cannot always be predicted from the molecular patterns, particularly among protans. Amino acid residues in exon 5 largely determine whether a hybrid gene will be more R-like or more G-like in phenotype. We observed numerous genetic polymorphisms in the R and G pigment genes of both normal and color-defective subjects. These polymorphisms may account for some, but not all, of the observed variations in color vision phenotypes. A common Ser/Ala polymorphism at position 180 of the R pigment gene was found to be highly correlated with the bimodal distribution of Raleigh matches we observed among 50 color-normal Caucasian males.

Structure-function relationships in human red/green color vision

Certain protans have gene arrays comprised of L-M hybrid genes and one or more normal M-pigment genes, and certain deutans have arrays containing M-L hybrids in addition to normal L pigment genes. We tested the hypothesis that chromatic discrimination depends upon the difference between spectra of the normal and hybrid pigments in the array. We suggested more severe abnormalities in color vision when normal and hybrid pigments had very similar spectra.

Arno G. Motulsky

Papers

The Human Genome: Chromosomes

Folic Acid Fortification of Food-Reply

Some red cell enzyme phenotype frequencies in Chinese.

Structure-function relationships in human red/green color vision

Correlation between Rayleigh match range in protans and deutans and the difference in λmax between hybrid and normal pigments