Unexpected relationships between four large deletions in the human β-globin gene cluster.

Two independent gamma delta beta-thalassemias are each associated with large deletions. We show, by comparing DNA sequences, that the deletions are due to non-homologous DNA exchanges. The 5' breakpoints are located approximately the same distance apart and in the same order along the DNA as their 3' breakpoints. Two independent cases of hereditary persistence of fetal hemoglobin, also involving large deletions, show the same unexpected relationship between their 5' and 3' breakpoints. This relationship is most simply explained if, within each pair, the deletions are of approximately the same length. The results suggest that the four deletions were generated by a common mechanism. Perhaps their 5' and 3' breakpoints are physically close in the nucleus, although far apart on the linear DNA

Green's function for a Schroedinger operator and some related summation formulas

Summation formulas are obtained for products of associated Lagurre polynomials by means of the Green's function K for the Hamiltonian H = -{d^2\over dx^2} + x^2 + Ax^{-2}, A > 0. K is constructed by an application of a Mercer type theorem that arises in connection with integral equations. The new approach introduced in this paper may be useful for the construction of wider classes of generating function.Comment: 14 page

Studies of hepatic synthesis in vivo of plasma proteins, including orosomucoid, transferrin, α-antitrypsin, C8, and factor B

Serum protein types were determined in eight recipients and donors in cases of hepatic homotransplantation. A change from recipient type to donor type was observed for factor B, C8, orosomucoid, haptoglobin, transferrin, α1-antitrypsin, C3 and C6, but not for Gm and Inv immunoglobulin markers. The results indicate that all the proteins studied (except immunoglobulins) are produced primarily by the liver in vivo. © 1980

Cotransformation and gene targeting in mouse embryonic stem cells.

We have investigated cotransformation in mammalian cells and its potential for identifying cells that have been modified by gene targeting. Selectable genes on separate DNA fragments were simultaneously introduced into cells by coelectroporation. When the introduced fragments were scored for random integration, 75% of the transformed cells integrated both fragments within the genome of the same cell. When one of the cointroduced fragments was scored for integration at a specific locus by gene targeting, only 4% of the targeted cells cointegrated the second fragment. Apparently, cells that have been modified by gene targeting with one DNA fragment rarely incorporate a second DNA fragment. Despite this limitation, we were able to use the cotransformation protocol to identify targeted cells by screening populations of colonies that had been transformed with a cointroduced selectable gene. When hypoxanthine phosphoribosyltransferase (hprt) targeting DNA was coelectroporated with a selectable neomycin phosphotransferase (neo) gene into embryonic stem (ES) cells, hprt-targeted colonies were isolated from the population of neo transformants at a frequency of 1 per 70 G418-resistant colonies. In parallel experiments with the same targeting construct, hprt-targeted cells were found at a frequency of 1 per 5,500 nonselected colonies. Thus, an 80-fold enrichment for targeted cells was observed within the population of colonies transformed with the cointroduced DNA compared with the population of nonselected colonies. This enrichment for targeted cells after cotransformation should be useful in the isolation of colonies that contain targeted but nonselectable gene alterations

Standing in a Garden of Forking Paths

According to the Path Principle, it is permissible to expand your set of beliefs iff (and because) the evidence you possess provides adequate support for such beliefs. If there is no path from here to there, you cannot add a belief to your belief set. If some thinker with the same type of evidential support has a path that they can take, so do you. The paths exist because of the evidence you possess and the support it provides. Evidential support grounds propositional justification. The principle is mistaken. There are permissible steps you may take that others may not even if you have the very same evidence. There are permissible steps that you cannot take that others can even if your beliefs receive the same type of evidential support. Because we have to assume almost nothing about the nature of evidential support to establish these results, we should reject evidentialism

Greenstone burial–exhumation cycles at the late Archean transition to plate tectonics

Converging lines of evidence suggest that, during the late Archean, Earth completed its transition from a stagnant-lid to a plate tectonics regime,although how and when this transition occurred is debated. The geological record indicates that some form of subduction, a key component of plate tectonics—has operated since the Mesoarchean, even though the tectonic style and timescales of burial and exhumation cycles within ancient convergent margins are poorly constrained.Here, we present a Neoarchean pressure–temperature–time (P–T–t) path from supracrustal rocks of the transpressional Yilgarn orogen (Western Australia), which documents how sea-floor-altered rocks underwent deep burial then exhumation during shortening that was unrelated to the episode of burial. Archean subduction, even if generally short-lived, was capable of producing eclogites along converging lithosphere boundaries, although exhumation processes in those environments were likely less efficient than today, such that return of high-pressure rocks to the surface was rare

Mathematical Modelling of Optical Coherence Tomography

In this chapter a general mathematical model of Optical Coherence Tomography (OCT) is presented on the basis of the electromagnetic theory. OCT produces high resolution images of the inner structure of biological tissues. Images are obtained by measuring the time delay and the intensity of the backscattered light from the sample considering also the coherence properties of light. The scattering problem is considered for a weakly scattering medium located far enough from the detector. The inverse problem is to reconstruct the susceptibility of the medium given the measurements for different positions of the mirror. Different approaches are addressed depending on the different assumptions made about the optical properties of the sample. This procedure is applied to a full field OCT system and an extension to standard (time and frequency domain) OCT is briefly presented.Comment: 28 pages, 5 figures, book chapte