The human genome is thought to harbor 50,000 to 100,000 genes, of which about half have been sampled to date in the form of expressed sequence tags. An international consortium was organized to develop and map gene-based sequence tagged site markers on a set of two radiation hybrid panels and a yeast artificial chromosome library. More than 16,000 human genes have been mapped relative to a framework map that contains about 1000 polymorphic genetic markers. The gene map unifies the existing genetic and physical maps with the nucleotide and protein sequence databases in a fashion that should speed the discovery of genes underlying inherited human disease. The integrated resource is available through a site on the World Wide Web at http://www.ncbi.nlm.nih.gov/SCIENCE96/.
We have constructed a physical map of the human genome by using a panel of 83 whole genome radiation hybrids (the Stanford G3 panel) in conjunction with 10,478 sequence-tagged sites (STSs) derived from random genomic DNA sequences, previously mapped genetic markers, and expressed sequences. Of these STSs, 5049 are framework markers that fall into 1766 high-confidence bins. An additional 945 STSs are indistinguishable in their map location from one or more of the framework markers. These 5994 mapped STSs have an average spacing of 500 kb. An additional 4484 STSs are positioned with respect to the framework markers. Comparison of the orders of markers on this map with orders derived from independent meiotic and YAC STS-content maps indicates that the error rate in defining high-confidence bins is <5%. Analysis of 322 random cDNAs indicates that the map covers the vast majority of the human genome. This STS-based radiation hybrid map of the human genome brings us one step closer to the goal of a physical map containing 30,000 unique ordered landmarks with an average marker spacing of 100 kb.
Abstract. Acetylsalicylic acid (Aspirin) belongs to nonsteroidal anti-inflammatory drugs (NSAIDs). Numerous studies have proven that aspirin reduces the signs and symptoms of inflammation and exhibited a broad range of pharmacological activities, including analgesic, antipyretic and antiplatelet properties. Previous studies suggested that beside the pharmacological activities aspirin was also associated with the side effects and toxicity of various doses and in various formulations. The present study is performed to explore the effects of aspirin in various doses (75mg (EC), 100mg, 150 (EC)mg and 300mg) in different preparation (enteric coated (EC), non-enteric coated) on liver enzymes (Serum glutamic oxaloacetate transaminase (SGOT) and Serum glutamic pyruvic transaminase (SGPT)) followed by daily administration for 10 days and for 30 days. We found that the SGOT level was increased by all doses of aspirin after 30 days of treatment, this effect was most significant at 75mg (EC) and 100mg dose, whereas at 150mg (EC) and 300mg was not very significant. The level of SGPT was decreased by all doses regardless of duration of treatment, only 75mg (EC) dose increased its level after 30 days of treatment, suggesting 75mg (EC) aspirin could be hepatotoxic due to lessen of anti-oxidant effects, furthermore suggests that patients with hepatic insufficiency should not receive 75mg (EC) dose of aspirin.
We describe a family in which non-syndromic mental retardation (MR) and an apparently balanced reciprocal translocation, t(1;17)(p36. 3;p11.2) segregates in eight individuals over three generations. Four children showed psychomotor developmental delay, reduced muscle tone, poor coordination, and learning difficulties. The affected adults had a varying range of behavioral problems and difficulties in social adjustment but no abnormal neurological signs. Most of them were functioning at the borderline learning difficulty level in intellectual abilities with additional specific difficulties in reading in two individuals. The Smith-Magenis and 1p36.3 deletion syndromes were excluded. We propose that this reciprocal translocation has disrupted an autosomal gene with an important function in cognitive development, and this family represents a unique resource for the molecular genetic study on non-syndromic MR.
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