P

P53, 365-366 Paralogous regions, 307 Parental genotyping, 397, 399 Parisian model, 215, 234-235 Parkinson disease, 196 Partial aneuploidy, 245-246 Patau syndrome, 239, 249 Patent rights, 285-286 Paternal mitochondria, 301 PAX6 gene, 81

PCR. See Polymerase chain reaction (PCR) Pea trait inheritance, 16-24

dominant masking of recessive, 20-21 genotype vs. phenotype, 19-20 phenotype frequency, 22-23 Pedigrees, 34

Pharmaceutical development funds, 285-286 Pharmaceutical products, 287, 294 Pharmacogenetics, 272, 307 Phenocopies conditional traits, 271-275 fraternal twin incompatibilities, 270 genetic mapping, 268-270 glaucoma genetics, 265-268 infectious disease susceptibilities, 273-275 maternal-fetal incompatibilities, 270-271 mistaken genetic origin, 268 risk estimation, 275 Phenotypes Definition, 19

expressed at various stages of development, 171 genotypic and phenotypic heterogeneity, 328-331

incompatibility situations, 270-271 inducible, 171-175 modulatory factors, 334-335 multiple phenotypes from one gene, 327-328 mutation type and disease severity, 331-332

varied expression, 185, 332-334 vs. genotype, 19-20 Phenotypic heterogeneity, 328-329 Phenylalanine hydroxylase, 157, 270-271 Phenylketonuria (PKU), 156-157, 270-271, 271 Physicians, 183, 309-310 Pigmentation, 28 Pleiotropic effects, 39 Point mutations, 156-161, 168

See also Missense mutations Polar bodies, 124 PolyA tail, 66-67 Polygenic, 343 Polyglutamine, 197-198 Polymerase DNA, 52 RNA, 74 Polymerase chain reaction (PCR) chain reaction, 143-145 primers, 142, 144, 145 sequence tagged sites, 151-152, 283 single-primer reactions, 140-143 virtual PCR, 152 Polymorphisms, 159-160, 306-307 Positional candidate cloning, 312 Positional cloning, 311, 322 Positive Exposure (campaign), 27n Prader-Willi syndrome, 255, 259-260, 262 Prader-Willi Syndrome Association, 255 Prenatal testing and screening, 383-384 AFP test (alpha-fetoprotein test), 246-247, 384,

385, 386-387 amniocentesis, 247, 388-389 chorionic villus sampling, 247, 390 conditional pregnancy, 393-397 DNA analysis, 391-393 Down syndrome, 246-249 ethical issues, 386, 397-401 karyotyping, 390-391 maternal blood screening, 386-387 parental genotyping, 397, 399 sex selection, 384-386 ultrasound, 386, 388 urea cycle disorders, 11, 12 Primary and secondary sex characteristics,

215-217 Primers, 142, 144, 145 Prions, 274-275 Proband, 34, 35

Programmed cell death, 195-196, 198, 334 Promoters, 72-74 activation in gene therapy, 411 lactase persistence, 172-173 Pronuclear transplantation, 258-261

Pronuclei, 124, 259 Prophase, 100, 101 meiosis, 109, 111-112 mitosis, 100-102, 106 See also Cell division Prostate cancer, 328, 359 Protein products, 55-56 Proteins about, 9, 11-12, 56-57, 58, 328 chaperone, 334-335 DNA-packing, 255 folding, 158

modulatory factors, 334-335 receptor, 9, 222-224, 327-328 regulatory, 75-77, 82 size, shape, and charge, 56 size and risk of mutation, 179-180 structural, 9, 131-132 synthesis, 59-63 truncated, 157-159 See also Genetic code; mutations Proto-oncogenes, 361-362 Pseudoautosomal region (PAR), 207, 209 Pseudogenes, 309 Punnett squares, 32-33

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