Iatrogenic infections defined, 284 Idiopathic congenital central hypoventilation syndrome, 324, 325f

Illumina bead array technology in gene mutation detection, 185 Immunoglobulin heavy chain gene rearrangements in, 347-348, 348f, 351f-353f, 351-353 Immunoglobulin light chain gene rearrangements in, 348-349, 349f, 353-354, 354f Immunohistochemistry in breast cancer, 335-336 in p53 detection, 341, 341t Imprinting DNA

methylation as source of, 16b genomic, 320b, 325-326 In vitro synthesized protein in gene mutation detection, 188-189, 189f In vitro transcription/translation in gene mutation detection, 188-189, 189f Inducible transcription

RNA, 31 Induction in gene expression, 39b, 40f Influenza viruses detection of, 294t Informative loci in bone marrow transplantation, 246, 246f, 248, 248f, 250f Inheritance gene as unit of, 54 probability in, 156 Inherited diseases congenital diseases versus, 311 molecular basis of, 311 molecular detection of, 310-326. See also specific diseases limitations of, 326 Initiation transcription, 39 Initiation complex ribosomal, 58 Inorganic isolation methods

DNA, 68-69, 69f Insertions gene mutation nomenclature for, 194 Instrument maintenance calibration verification in, 416-417 laboratory personnel in, 413, 413f quality assurance in, 413f-416f, 413-417 of specific instruments, 413-416, 414f-416f

Insulin amino acid sequence of, 52b Intercalating agents defined, 7b Interference

Internal controls in quality assurance procedures, 267, 412

Internal labeling in dideoxy DNA sequencing, 206 Internal size standards defined, 232 Internal transcribed spacer elements in molecular epidemiology, 288 International Genome Database purpose of, 235b International Society for Forensic Genetics short tandem repeat nomenclature of, 232-234, 234t International Union of Biochemistry and Molecular Biology mixed base nomenclature of, 219, 219t Interphase chromosomes structure of, 158 Interphase fluorescence in situ hybridization in chromosomal mutations, 166f-167f, 166-168 Interspersed repetitive elements in molecular epidemiology, 287-288, 289f-290f

Introns defined, 32

in messenger RNA splicing, 32b-33b, 32-33, 33f Invader assay in gene mutation detection, 191, 193f Inversion karyotyping in detection of chromosomal,

163, 165, 165f nomenclature for nucleotide, 94 Inversion probe assay in gene mutation detection, 181-183, 182f Ionization of amino acids, 49, 51f in electrophoresis buffer systems, 87, 87b Isochromosomes karyotyping in detection of, 165, 165f Isoelectric focusing gel in Western blot, 102 Isoleucine structure of, 50f Isopropanol in DNA isolation, 68, 68b Isothermal amplification strand displacement as, 144-145, 145f

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