Single gene disorder Alexander endler
Single gene disorder Alexander Endler
Number of genes in eucaryotic cells (E coli) 4.6Mb 4, 288 genes cerevisiae 13.5Mb 6,034 genes D. melanogaster 165Mb 12.000 genes C. elegans 97 Mb 19,099 genes H. Sapiens 3, 300 Mb 40,000 genes 28,000-34000 genes 25.947 genes Retroviruses 10 Kb about 10 genes
28,000−34,000 genes 25,947 genes ( E. coli ) 4.6 Mb 4,288 genes S. cerevisiae 13.5 Mb 6,034 genes D. melanogaster 165 Mb 12,000 genes C. elegans 97 Mb 19,099 genes H. Sapiens 3,300 Mb 40,000 genes Number of genes in Eucaryotic cells Retroviruses 10 Kb about 10 genes
Gene abundance number of different m-RNA's molecules/cell Mouse liver cytoplasmic 12000 700 300 11500 15 Chicken oviduct 100000 4000 12500
Gene abundance number of different m-RNA’s molecules/cell Mouse liver cytoplasmic 9 12000 700 300 11500 15 Chicken oviduct 1 100000 7 4000 12500 5
Over 5 of human babies born have recognizable malformations some of them mild some of them severe. Some birth defects are produced by mutant genes or chromosomal abnormalities, while others are produced by environmental factors Genetic defects: malformations often appear as syndromes Use of animal models to identify genetic, cellular and molecular basis of human syndromes Environmental defects: disruptions Responsible agents: teratogens-chemicals, viruses, radiation
Over 5 % of human babies born have recognizable malformations, some of them mild some of them severe. Some birth defects are produced by mutant genes or chromosomal abnormalities, while others are produced by environmental factors. Genetic defects: malformations – often appear as syndromes Use of animal models to identify genetic, cellular and molecular basis of human syndromes. Environmental defects: disruptions Responsible agents: teratogens – chemicals, viruses, radiation
In medicine, the term syndrome refers to the association of several clinically recognizable features, signs, symptoms, phenomena or characteristics that often occur together so that the presence of one feature alerts the physician to the presence of the others Pleiotropy The production of several effects by one gene is called pleiotropy (A)Mosaic pleiotropy (B)Relational pleiotropy Gene a Gene A 60-( igure 21.7 Mosaic and relational pleiotropy.(A)In mosaic pleiotropy, a gene is independently expressed in several tissues. Each tissue needs the gene product and develops abnormally in its absence. (B) In relational pleiotropy, a gene product is needed by only one particular tissue. However, a second tissue needs a signal from the first tissue in order to develop properly. If the first tissue develops abnormally, the signal is not given, so the second tissue develops abnormally as wel
Pleiotropy In medicine, the term syndrome refers to the association of several clinically recognizable features, signs , symptoms, phenomena or characteristics that often occur together, so that the presence of one feature alerts the physician to the presence of the others The production of several effects by one gene is called pleiotropy