Medical genetics / edited by Victor A. McKusick and Robert Claiborne.

Date:
[1973]
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Medical genetics / edited by Victor A. McKusick and Robert Claiborne. Source: Wellcome Collection.

    317/328 (page 295)
    hl-a, 183-195 chromosome mapping, 179 and Hodgkin's disease, 181 and nontropical sprue, 182 segregant series, 193 * and systemic lupus erythematosus, 182 Holtzman, N. A. (see Hsia, D.Y-Y.) Homocystinuria, 68*, 250* dietary treatment, 77 inheritance, 73, 222* screening test, 232 synopsis, 278* vitamin B(i dependency, 77 youngest patient treated, 73 Homozygosity, 6 Howell, R. R.: Genetic Disease; The Present Status of Treatment, 271-280 Hsia, D.Y-Y. and Holtzman, N. A.: A Critical Evaluation of PKU Screening, 237-244 Human growth hormone (hgh) amino acid sequence, 150* disorders, 149-156 function, 149 metabolism, 149*, 150 radioimmunologic assay, 152* synthesis of, 150 tissue insensitivity to (in Pygmies), 155-156, 156* Hunt, A. D., 73 Hunter, C., 141 Hunter's syndrome (see also Hurler's syndrome; Mucopolysaccharidoses) appearance of patient, 216* cross-correction experiments, 144* leukocyte transfusion, 275* prenatal diagnosis, 147 synopsis, 146*. 279* urine tests, 145* X chromosome of carriers, 20 Huntington's chorea, 221 inheritance, 224 pedigree, 226* Hurler, G., 141 Hurler's syndrome, 141-147 (see also Hunter's syndrome; Mucopolysacchari¬ doses) appearance of patient, 141, 216* cross-correction experiments, 144* liver cells in, 142* prenatal diagnosis, 145*, 147 synopsis, 146*, 279* Hybrids, somatic cell, fluorescence analysis, 37 Hyperammonemia, synopsis, 278* Hyperargininemia, synopsis, 278* Hyperbilirubinemia (see also Crigler- Najjar syndrome) benign, in breast-fed infants, 128* chronic nonhemolytic, pedigree, 126* drug-induced, 124 synopsis, 279* Hypercystinuria, 88 Hyperoxaluria, primary, 278* Hyperphenylalaninemia and hypertyrosinemia, in infants, 242* inheritance, 240 in screening for pku, 240 Hypertyrosinemia, 242* Hypophosphatemic rickets familial, synopsis, 279* X-linked, 73 Hypoxanthine-guanine phosphoribosyl- transferase (hgprt) defect, 104-106, 162*,164 I Identification of chromosomes, techniques autoradiography, 27 centromeric position, 3 fluorescent staining, 27 secondary constrictions, 3 size, 3 tv camera projection, 34 ultramicrospectrophotometry, 27 Iminoglycinuria heterogeneity of, 84, 85, 88 inhibition experiments, 84* pedigree, 81* renal clearance, 84 transport defect, 83* Immune response (see Antibody response) Immune response genes behavior of, 171 cellular expression, 169-178 histocompatibility-linked, list, 173* identification, 178 locus, 174, 178 mapping of, 180 T cells as expressors of, 174 threshold of response and antigen dose, 171 Immunoglobulin allotype genes, 173 Immunosuppressive drugs, in organ transplants, 183 Inactivation of X chromosome (see X-inactivation) Inbred groups in genetics, 218 Incidence of genetic diseases consanguinity and, 206 increase in, result of successful treatment, 277* family relationships in, 204,204* severity of index case and, 205 sex ratio in, 205 Inherited drug anomalies, mechanisms anatomic disorders, 95 drug metabolism disorders, 95 receptor site disorders, 95 tissue metabolism disorders, 95 International Transplantation Conference (1972), 190 Intersex (see also Hermaphrodites) mosaicism, 23 XX/XY chimeras, 24 XO/XY mosaic, 24 Intestinal polyposis, 222* Ischemic heart disease environmental factors, 207 incidence in relatives, 206 Ishihara, 49 Isoantigen, 171 Isochromosomes, 11,19*, 25 Isoenzymes, definition, 63 Isolated growth hormone deficiency (sexual ateliotic dwarfism), 153 inheritance, 154 insulin response, 153* and panhypopituitarism, 153 reproduction, 154 treatment, 154 Isoniazid (inh) and related drugs bimodal excretion pattern, 92* diphenylhydantoin sensitivity, 94 enzyme deficiency of slow inactivators, 92 excretion rates in twins, 94* lupus erythematosus-like syndrome after hydralazine, 92 pedigree of excretion rates, 92* peripheral neuritis after inh, 92 rapid and slow inactivators, genetics of, 92 J Jaundice in Dubin-Johnson syndrome, 129 incorrect diagnosis of, 129 Jaundice in infants from breast milk, 127 physiologic, Y protein maturation and, 125 Joint laxity familial, and congenital hip dislocation, 206-208, 206*-207* hormonal, in pregnancy, 208 in rabbits (experimental), 208 К Kaback, M. M. and O'Brien, J. S.: Tay-Sachs: Prototype for Prevention of Genetic Disease, 253-262 Kallman, F. J., 206 Kaplan, 151 Kappas, A. (iee Levere, R. D.) Karyotype, normal, 28* Karyotyping technique, 3,4,4*, 5*, 6* Keratan sulfate, 142 Kidney transplant in cystinosis, 275, 276* in Fabry's disease, 275 prediction of success from leukocyte cultures (mlc), 190 Kinky-hair syndrome, 279* Kinship determination by fluorescence pattern of chromosomes, 30 Kleihauer test for fetal erythrocytes, 266,267 Klein, 192 Klinefelter's syndrome clinical signs, 21 infertility, 21 karyotype, 21* physical appearance, 20* XY interchange in, 24 Klenk, E., 256 Knox, W. E.: Inherited Enzyme Defects, 63-71 Knudson, 147 Kountz, 190 295