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Your search keyword '"Melmer G"' showing total 3 results
Start Over Author "Melmer G" Journal psychiatric genetics
3 results on '"Melmer G"'

2. Analysis of Polymorphic Microsatellite DNA Sequences by PCR Amplification of Paraffinembedded Tissue

Author

Mankoo, B. S., Sherrington, R., Kalsi, G., Melmer, G., Brynjolfsson, J., Petursson, H., and Gurling, H. M.D.

Abstract

A technique is described for the first time which demonstrates the ability to study DNA microsatellite polymorphisms in post mortem formalin-fixed tissue embedded in paraffin. We report the successful amplification of single copy polymorphic microsatellite DNA from tissue samples fixed in formalin as long as 18 years ago. This procedure is inexpensive and simple making possible retrospective genetic studies. It has enabled us to conduct linkage analysis with deceased affected individuals from kinships with multiple cases of psychiatric disorder.

Published
1991

3. Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region.

Author

Vincent JB, Melmer G, Bolton PF, Hodgkinson S, Holmes D, Curtis D, and Gurling HM

Subjects
Chromosome Mapping, Female, Fragile X Mental Retardation Protein, Genetic Predisposition to Disease, Humans, Likelihood Functions, Male, Methyl-CpG-Binding Protein 2, Pedigree, Phenotype, Statistics, Nonparametric, Autistic Disorder genetics, Chromosomal Proteins, Non-Histone genetics, Chromosomes, Human, X, DNA-Binding Proteins genetics, Nerve Tissue Proteins genetics, RNA-Binding Proteins genetics, Repressor Proteins genetics
Abstract

The higher prevalence of autism in males than in females suggests the possible involvement of the X chromosome. To test the hypothesis that there are mutations increasing susceptibility to autism on the X chromosome, and in particular the distal portion of the long arm that encompasses the FMRI and MECP2 loci, a genetic linkage study was performed. Twenty-two fragile X-negative families multiplex for autism and related disorders were used for the study. Linkage analysis, for markers in the Xq27-q28 region, using model-free likelihood-based analysis, produced a maximum MLOD of 1.7 for the narrowest diagnostic category of the typical autism/severe autism spectrum, and nonparametric analysis produced a maximum non-parametric lod (NPL) score of 2.1 for a broad phenotype diagnostic model. Thus, this study offers modest support for a susceptibility locus for autism within the Xq27-q28 region. Further genetic investigations of this region are warranted.

Published
2005
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