Frontiers in Human Genetics: Diseases and Technologies. by International Symposium on Human Genetics and Gene Therapy

By International Symposium on Human Genetics and Gene Therapy (1999 : Singapore), Eric P. H. Yap, Lai Poh San, Poh San Lai, Nihon Gakujutsu Shinkokai

With the final touch of human genome sequencing, human genetics is poised for significant advancements in sensible genomics, molecular diagnostics, pathogenesis of advanced multifactorial illnesses and gene-based remedy. This publication contains manuscripts from a world symposium on human genetics and gene treatment in addition to articles written by means of a variety of younger researchers within the Asia Pacific area who're actively focused on a various diversity of scientific difficulties, together with cancers, infections, high blood pressure and myopia. New applied sciences being constructed in gene remedy, lab-on-chips and bioinformatics are said. The ebook presents a photo of the varied methods and strategies being built on the frontiers of human genetics. it may be invaluable to researchers and scholars in molecular genetics and the existence sciences, pros within the biotechnology and pharmaceutical industries, in addition to clinicians who're attracted to molecular medication and gene treatment.

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Am J Hum Genet 1992; 50: 700-705. Speleman F, Van Roy N, Wiegant Joop et al. Detection of subtle translocations by fluorescence in situ hybridisation. Clin Genet 1992; 41: 169-1 74. Tucker JD, Morgan WF, Awa AA, Bauchinger M, Blakey D, A proposed system for scoring structural aberrations detected by chromosome painting. Cytogenet Cell Genet 1995; 68: 2 1 1-22 1. Prenata1 diagnosis by FISH on chorionic villus cells; non-significance of maternal cell contamination. Fetal Diagn Ther 1994; 9(2);73-76.

3 A representative gel showing different genotypes of G-A polymorphisms in exon 3B SNP locus. All three genotypes (1 1, 12 and 22) are evidence in this gel. MI represents 20 bp DNA size marker. 78. = Reciprocal of the observed homozygosity = square test based on total heterozygosity at the locus. The levels of significance of the test procedure were determined empirically by a permutation-based simulation method. Briefly, it involved reconstruction of genotype frequencies by random shuffling of the two alleles.

We report here a novel in silico approach to predict the presence of novel SNP in a specific gene, and demonstrate its utility in a candidate gene for myopia, the tissue inhibitor of metalloproteinase-2 (TIMP-2) gene. TIMP-2 proteins are inhibitors of metalloproteinases that are responsible for the degeneration of connective tissue including the sclera tissue of ocular globe. TheTIMP-2 gene is located on chromosome 17q25 and is encoded by five exons spanning 83 kb of genomic DNA. No intragenic or flanking DNA markers had previously been reported.

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