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Biomedical subjects

L J Allen

Publications and source records attributed to L J Allen.

13 recordsLinked to original sources

Chromosomal localization of three human D5 dopamine receptor genes.

It is currently thought that genetic predisposition to imbalances in dopaminergic transmission may underlie several neurological disorders, including schizophrenia, manic depression, Tourette syndrome, Parkinson disease, Huntington disease, and alcohol abuse. Originally two receptors, D1 and D2, were thought to account for all of the pharmacological actions of dopamine. However, through homology screening three additional genes, D3, D4, and D5, and two pseudogenes closely related to D5 have been characterized. To begin our genomic and evolutionary analyses of the human D5 dopamine receptor gene and its two pseudogenes, we have mapped each of them to their respective chromosomes. By combining in situ hybridization results with sequence analysis of PCR products from microdissected chromosomes, somatic cell hybrids, and radiation hybrids, we have assigned DRD5 (the locus containing the functional human D5 receptor gene) to chromosome 4p16.1, DRD5P1 (the locus containing D5 pseudogene 1) to chromosome 2p11.1-p11.2, and DRD5P2 (the locus of D5 pseudogene 2) to chromosome 1q21.1.

Base Sequence

A discrete-time model with vaccination for a measles epidemic.

A discrete-time, age-independent SIR-type epidemic model is formulated and analyzed. The effects of vaccination are also included in the model. Three mathematically important properties are verified for the model: solutions are nonnegative, the population size is time-invariant, and the epidemic concludes with all individuals either remaining susceptible or becoming immune (a property typical of SIR models). The model is applied to a measles epidemic on a university campus. The simulated results are in good agreement with the actual data if it is assumed that the population mixes nonhomogeneously. The results of the simulations indicate that a rate of immunity greater than 98% may be required to prevent an epidemic in a university population. The model has applications to other contagious diseases of SIR type. Furthermore, the simulated results of the model can easily be compared to data, and the effects of a vaccination program can be examined.

Adolescent

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.

It has recently been shown that apparently similar deletions of chromosome 15q occur commonly in the Prader-Willi and Angelman syndromes. The distinctness of the syndromes suggests that the deletions are not identical. To address this possibility, the specific bands involved and the sizes of the deletions were compared in seven patients with Prader-Willi syndrome and 10 patients with Angelman syndrome using high-resolution G-, Q-, and fluorescent R-banding techniques. The parental origin of the nine cases of Angelman syndrome for which parents were available for study was determined. The same proximal band was deleted (q11.2) in both syndromes. In general, the deletion in patients with Angelman syndrome was larger, though variable, and included bands q12 and part of q13. All of the studied deletions in patients with Angelman syndrome were of maternal origin. This contrasts with the predominant paternal origin of the deletion in patients with Prader-Willi syndrome. Two possible reasons for these observations are postulated: 1) the deleted regions are different at the cytologic and/or molecular level because of different exchange points in meiosis in males and females or to different mechanisms of breakage in males and females, resulting in differing breakpoints; 2) the deleted regions are essentially the same, but differential expression of the genes in the homologous chromosome 15 has occurred (imprinting).

Adolescent

Pulmonary function in normal subjects following exercise at cold ambient temperatures.

We measured pulmonary function in 12 healthy volunteers before and at 5-min intervals for 30 min following treadmill exercise of 30 min duration performed under control (20 degrees C) and cold (-11 degrees C) ambient temperatures. Post-run changes in forced vital capacity (FVC), residual volume (RV) and peak expiratory flow rate were similar between the two temperature conditions. FVC decreased slightly but significantly 5 min post-run (-0.25 +/- 0.20 l and -0.21 +/- 0.20 l, for control and cold conditions respectively) and returned to baseline by 30 min. RV increased significantly post-exercise (+0.07 +/- 0.09 l and +0.14 +/- 0.1 l, control and cold respectively) and remained elevated for 30 min. Forced expired volume in 1 s was not significantly different following either run. Post-exercise, maximum mid-expiratory flow rate and flows at 50% and 25% of vital capacity were not significantly different between warm and cold conditions. These data suggest that changes in lung volumes following exercise under cold ambient conditions are similar to changes seen following warm exercise of similar duration. In non-asthmatics, moderate exertion under cold ambient conditions does not appear to cause clinically significant decreases in expiratory flow rates as compared to similar exertion under warm conditions.

Adult

A density-dependent Leslie matrix model.

A density-dependent Leslie matrix model introduced in 1948 by Leslie is mathematically analyzed. It is shown that the behavior is similar to that of the constant Leslie matrix. In the primitive case, the density-dependent Leslie matrix model has an asymptotic distribution corresponding to the logistic equation. However, in the imprimitive case, the asymptotic distribution is periodic, with period depending on the imprimitivity index.

Animals

Persistence, extinction, and critical patch number for island populations.

Sufficient conditions are derived for persistence and extinction of a population inhabiting several islands. Discrete reaction-diffusion population models are analyzed which describe growth and diffusion of a population on a group of islands or a patch environment. A critical patch number is defined as the number of islands below which the population goes extinct on that group of islands. It is shown that population persistence on one island leads to population persistence for the entire archipelago. Both single-species and multi-species models are discussed.

Animals

A neuroendocrine tumor of the small intestine with a karyotype of 46,XY,t(11;22).

Direct preparations of cells from a neuroendocrine carcinoma of the small intestine reveal a karyotype of 46,XY,t(11;22)(q25;q12). Though only 13 cells could be analyzed from both direct and 24 hour preparations, all revealed the translocation; no normal cell line was seen. The patient had not been treated at the time of biopsy. A similar translocation recently has been reported in a number of cases of Ewing's sarcoma and in peripheral neuroepithelioma. This common occurrence, along with the observation that a rearranged chromosome #22 with breakpoints at q11 or q12 are observed in other neoplasias including leukemia, suggests a possible causative role for these phenomena.

Carcinoma