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E A Yount

Publications and source records attributed to E A Yount.

7 recordsLinked to original sources

Applications of the MEGADATS database system in medical genetics.

The MEGADATS relational database system has many useful applications in the field of medical genetics. Some of these applications include storage, retrieval, and display of pedigree information; retrieval of sets of individuals, sibships, or families who meet given criteria; storage of necessary information for mailing lists, clinic data, etc; and combination of pedigree information and genotype information into the format needed for linkage analysis packages.

Genetics, Medical

The use of relational database commands in retrieval of pedigree information.

Genetic research frequently requires retrieval of information about families afflicted with some genetic disease. These queries may involve simple retrieval of information on individuals with particular attributes or finding data from sibships or families who meet some set of criteria. Although the former case may be handled by almost any file management system, the latter case cannot be easily managed since family relationships are necessary to the query. These family relationships are normally stored by means of a pointer system that links the record of each individual with those of his parents. Given such a pointer system, the standard commands of a relational database system can be used to perform such retrievals, thus diminishing the need for special programs to perform such queries.

Database Management Systems

Automating data manipulation for genetic analysis using a data base management system.

Inefficient coding and manipulation of pedigree data have often hindered the progress of genetic studies. In this paper we present the methodology for interfacing a data base management system (DBMS) called MEGADATS with a linkage analysis program called LIPED. Two families that segregate a dominant trait and one test marker were used in a simulated exercise to demonstrate how a DBMS can be used to automate tedious clerical steps and improve the efficiency of a genetic analysis. The merits of this approach to data management are discussed. We conclude that a standardized format for genetic analysis programs would greatly facilitate data analysis.

Genetics, Medical

Huntington's disease research roster data base support with MEGADATS-3M.

This paper describes the MEGADATS (MEdical Genetics Acquisition and DAta Transfer System) data base development project for collecting, storing, retrieving, and plotting human family pedigrees. The newest system, MEGADATS-3M, is described. The microcomputer version of MEGADATS-3M and the use of MEGADATS-3M in the support of the Huntington's disease research roster project are emphasized. Examples of data input and pedigree plotting are shown.

Computers

Development of guanylylimidodiphosphate-dependent activation of adenylate cyclase by glucagon in the neonatal rat heart.

The basal adenylate cyclase activity of the rat heart increases with the age of the animal. By itself, 10(-5) M glucagon activates only adenylate cyclase activity from adult rat hearts. In contrast, 10(-5) M glucagon in the presence of 10(-4)M 5'-guanylylimidodiphosphate (GMP-PNP) clearly activates adenylates cyclase activity in the 14-day-old rat heart, with some activation being evident in hearts of 7-day-old animals. GMP-PNP, 10(-4) M, activates adenylate cyclase activity by itself at ages of 14 days and older, but to a far lesser degree than in combination with 10(-5) M glucagon. Activity elicited by NaF increases throughout the neonatal period. The ratio of NaF-stimulated activity to basal activity increases from 6.3 at 2 days to 10.0 in the adult, a change which is not statistically significant. We conclude that a cardiac receptor for glucagon is present early in neonatal period of the rat, but this receptor cannot effect activation of adenylate cyclase and an increase in heart rate, or depletion of glycogen. Even in the presence of 10(-4) GMP-PNP, the response to glucagon by cardiac adenylate cyclase depends on the age of the rat. In heart cells from a 7-day-old rat, the response is barely measurable but the magnitude of the response increases each week.

Adenylyl Cyclases