A worldwide correlation of lactase persistence phenotype and genotypes

Background: The ability of adult humans to digest the milk sugar lactose - lactase persistence - is a dominant Mendelian trait that has been a subject of extensive genetic, medical and evolutionary research. Lactase persistence is common in people of European ancestry as well as some African, Middle Eastern and Southern Asian groups, but is rare or absent elsewhere in the world. The recent identification of independent nucleotide changes that are strongly associated with lactase persistence in different populations worldwide has led to the possibility of genetic tests for the trait. However, it is highly unlikely that all lactase persistence-associated variants are known. Using an extensive database of lactase persistence phenotype frequencies, together with information on how those data were collected and data on the frequencies of lactase persistence variants, we present a global summary of the extent to which current genetic knowledge can explain lactase persistence phenotype frequency. Results: We used surface interpolation of Old World lactase persistence genotype and phenotype frequency estimates obtained from all available literature and perform a comparison between predicted and observed trait frequencies in continuous space. By accommodating additional data on sample numbers and known false negative and false positive rates for the various lactase persistence phenotype tests (blood glucose and breath hydrogen), we also apply a Monte Carlo method to estimate the probability that known lactase persistence-associated allele frequencies can explain observed trait frequencies in different regions. Conclusion: Lactase persistence genotype data is currently insufficient to explain lactase persistence phenotype frequency in much of western and southern Africa, southeastern Europe, the Middle East and parts of central and southern Asia. We suggest that further studies of genetic variation in these regions should reveal additional nucleotide variants that are associated with lactase persistence

Resolving the enigma of the clonal expansion of mtDNA deletions

Mitochondria are cell organelles that are special since they contain their own genetic material in the form of mitochondrial DNA (mtDNA). Damage and mutations of mtDNA are not only involved in several inherited human diseases but are also widely thought to play an important role during aging. In both cases, point mutations or large deletions accumulate inside cells, leading to functional impairment once a certain threshold has been surpassed. In most cases, it is a single type of mutant that clonally expands and out-competes the wild type mtDNA, with different mutant molecules being amplified in different cells. The challenge is to explain where the selection advantage for the accumulation comes from, why such a large range of different deletions seem to possess this advantage, and how this process can scale to species with different lifespans such as those of rats and man. From this perspective, we provide an overview of current ideas, present an update of our own proposal, and discuss the wider relevance of the phenomenon for aging

Chiral multiplets versus parity doublets in highly excited baryons

It has recently been suggested that the parity doublet structure seen in the spectrum of highly excited baryons may be due to effective chiral restoration for these states. We argue how the idea of chiral symmetry restoration high in the spectrum is consistent with the concept of quark-hadron duality. If chiral symmetry is effectively restored for highly-lying states, then the baryons should fall into representations of $SU(2)_L\times SU(2)_R$ that are compatible with the given parity of the states - the parity-chiral multiplets. We classify all possible parity-chiral multiplets: (i) $(1/2,0)\oplus(0, 1/2)$ that contain parity doublet for nucleon spectrum;(ii) $(3/2,0) \oplus (0, 3/2)$ consists of the parity doublet for delta spectrum; (iii) $(1/2,1) \oplus (1, 1/2)$ contains one parity doublet in the nucleon spectrum and one parity doublet in the delta spectrum of the same spin that are degenerate in mass. Here we show that the available spectroscopic data for nonstrange baryons in the $\sim$ 2 GeV range is consistent with all possibilities, but the approximate degeneracy of parity doublets in nucleon and delta spectra support the latter possibility with excited baryons approximately falling into $(1/2,1) \oplus (1, 1/2)$ representation of SU(2)_L\timesSU(2)_R with approximate degeneracy between positive and negative parity $N$ and $\Delta$ resonances of the same spin.Comment: RevTeX, 6 pages. The paper has been expanded in order to make the idea of chiral symmetry restoration as it follows from the concept of quark-hadron duality more transparent. To appear in Phys. Rev.

Tank Vapor Characterization Project: Headspace vapor characterization of Hanford Waste Tank 241-S-103: Results from samples collected on 06/12/96

This report describes the analytical results of vapor samples taken from the headspace of the waste storage tank 241-S-103 (Tank S-103) at the Hanford Site in Washington State. The results described in this report were obtained to characterize the vapors present in the tank headspace and to support safety evaluations and tank farm operations. The results include air concentrations of selected inorganic and organic analytes and grouped compounds from samples obtained by Westinghouse Hanford Company (WHC) and provided for analysis to Pacific Northwest National Laboratory (PNNL). Analyses were performed by the Vapor Analytical Laboratory (VAL) at PNNL. Analyte concentrations were based on analytical results and, where appropriate, sample volumes provided by WHC. A summary of the inorganic analytes, permanent gases, and total non-methane organic compounds is listed in Table S.1. The three highest concentration analytes detected in SUMMA{trademark} canister and triple sorbent trap samples are also listed in Table S.1. Detailed descriptions of the analytical results appear in the appendices

Tank Vapor Characterization Project: Headspace vapor characterization of Hanford Tank 241-TY-102: Results from samples collected on 04/12/96

This report describes the analytical results of vapor samples taken from the headspace of the waste storage tank 241-TY-102 (Tank TY-102) at the Hanford Site in Washington State. The results described in this report were obtained to`characterize the vapors present in the tank headspace and to support safety evaluations and tank farm operations. The results include air concentrations of selected inorganic and organic analytes, and grouped compounds from samples obtained by Westinghouse Hanford Company (WHC) and provided for analysis to Pacific Northwest National Laboratory (PNNL). Analyses were performed by the Vapor Analytical Laboratory (VAL) at PNNL. Analyte concentrations were based on analytical results and, where appropriate, sample volumes provided by WHC. A summary of the inorganic analytes, permanent gases, and total non-methane organic compounds is listed in Table S.1. The three highest concentration analytes detected in SUMMA{trademark} canister and triple sorbent trap samples are also listed in Table S.1. Detailed descriptions of the analytical results appear in the appendices

Tank Vapor Characterization Project: Headspace vapor characterization of Hanford Tank 241-B-105: Results from samples collected on 07/30/96

This report describes the analytical results of vapor samples taken from the headspace of the waste storage tank 241-B-105 (Tank B-105) at the Hanford Site in Washington State. The results described in this report were obtained to characterize the vapors present in the tank headspace and to support safety evaluations and tank farm operations. The results include air concentrations of selected inorganic and organic analytes and grouped compounds from samples obtained by Westinghouse Hanford Company (WHC) and provided for analysis to Pacific Northwest National Laboratory (PNNL). Analyses were performed by the Vapor Analytical Laboratory (VAL) at PNNL. Analyte concentrations were based on analytical results and, where appropriate, sample volumes provided by WHC. A summary of the inorganic analytes, permanent gases, and total non-methane organic compounds is listed in Table S.1. The three highest concentration analytes detected in SUMMA{trademark} canister and triple sorbent trap samples are also listed in Table S.1. Detailed descriptions of the analytical results appear in the appendices