T

Tay-Sachs disease, allele-specific amplification fluorescent polymerase chain reaction assay, amplification reactions, 135,136,139,140

gel electrophoresis on fluorescence detection apparatus, 136, 137 genomic DNA isolation, 135, 138 interpretation, 137, 139, 140 materials, 133-135, 138, 139 primers, 134 principles, 132, 133 quality control, 137 biochemical screening, 131 epidemiology, 131 hexosaminidase A gene mutations, 131,132

Telethonin, defect analysis, 367-369 Trinucleotide repeat expansion, see also Huntington's disease; FMR1; Polyglutamate; Repeat expansion detection; Spinocerebellar ataxia, cloning of microsatellite expansions, see DIRECT; Repeat analysis pooled isolation and detection cloning; Repeat expansion detection disease overview, 73, 83 genomic abundance, 51 mass spectrometry assay, see Matrixassisted laser desorption/ ionization mass spectrometry motifs in human disease, 51 number of repeats, 73 TSC, see Tuberous sclerosis complex Tuberin, see Tuberous sclerosis complex

Tuberous sclerosis complex (TSC), clinical features, 329 gene mutations and functions, 329, 330 protein truncation test analysis of tuberin and hamartin, agarose gel electrophoresis,

335, 338, 342 autoradiography, 335, 339 B lymphocyte transformation,

334, 336, 341 cloning, 335, 339, 340, 343 complementary DNA synthesis, 334, 337, 342

genomic DNA extraction,

334, 336, 337 in vitro transcription and translation, 335, 338, 343 materials, 334-336 overview, 330, 332, 333 polyacrylamide gel electrophoresis, 335, 339, 343 polymerase chain reaction,

334, 335, 338, 342 primers, 331

RNA extraction, 334, 337, 341, 342 sequencing, 336, 341, 343 T lymphocyte culture, 334, 336, 341

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