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.

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    Index A A-Bomb effects on chromosomes, 49* abo incompatibility, and Rh immunization, 266*, 267* Abnormal hemoglobins isee Hemoglobin variants) Abortion, in chromosomal duplication deficiency, 11 Acetabular dysplasia, 207*, 208 Acetophenetidine metabolism, 95* Achondroplasia, 213, 214, 222* Acrocentric chromosome, 3,11 definition, 3 Active transport (see Transport, active) Adamson, J., 139 Adrenogenital syndrome cortisone in treatment, 69* enzyme block, 69*, 71 hypertension, 71 inheritance, 222* salt loss, 71 salt-retaining form, 71 synopsis, 279* treatment, 69, 71 virilization, 71 Agammaglobulinemia, synopsis, 279* Aganglionic megacolon (Hirschsprung's disease), 205 Age effect (see Maternal age effect) Albinism enzyme defect, 64*, 68*, 69-70 inheritance, 222* oculocutaneous, 70 Albino family, 70* Alkaptonuria, 65* arthritis, 69 diagnosis, 68 enzyme defect, 68 facial appearance, 69* incidence, 69 ochronosis, 69 synopsis, 68* Alleles, definition, 217 Allelic series, definition, 217 Alpha-l-antitrypsin electrophoretic patterns, 132* function, 131 genetic variants (Pi system), 132 Alpha-l-antitrypsin deficiency, 131-140, 234 cirrhosis, 136 clinical and genetic aspects, 131, 136 frequency of abnormal gene, 132 genetic counseling, 140 hepatic defect, 136 hepatocytes, 133*, 139* lung scans, 135* pedigree, 136* pulmonary emphysema, 131 radiographic findings, 135* screening for, 140, 234 severe, with or without emphysema, 134* * denotes illustration or table trimodal distribution, 132 Alport's syndrome, 222* Amino acid, artificial, 89 Amino acid residues, 63 Amino acid sequence in hemoglobin, 54* in human growth hormone, 150 in phenylketonuria, 66* Amino acid transport dual system 84-85, 88 ontogeny of dual system, 88 renal clearance of proline and phenylalanine, 82* role in nutrition, 88 Amino acid transport defects Hartnup disease, 84 iminoglycinuria, 81*, 83*, 84*, 85, 88 methionine malabsorption syndrome, 84 model, 85* Amish studies, 213 Amniocentesis, and cytogenetic analysis, 248 *-249* Amniocentesis for prenatal diagnosis chromosomal anomalies, 249 genetic disorders, 249 Lesch-Nyhan syndrome (case history), 250 list of detectable disorders, 250* methylmalonic aciduria, 248 respiratory distress syndrome, 248 Rh disease, 247 risks, 247 Amniotic cell cultures, 159, 246* Amos, 191 Amyloid neuropathy, kindred studies, 213 Anencephaly incidence, 205 polygenic inheritance, 205 Aniridia, congenital, 222*, 224* Ankylosing spondylitis and histocompatibility antigens, 181 incidence and risk in relatives, 206 Antibodies 7S (IgG) and 19S (IgM), 171*, 174 Antibody-antigen reactions (see Histocompatibility; Transplants) Antibody response В cell, T cell, macrophage populations involved, 169,170 genetic control of, 169-182 mechanisms of (animal experiments), 170-176 steps in, 170* Antibody structure association with immune response gene(s), 173 genetic coding for, 173 Anticoagulants, coumàrin-type dicumarol metabolism, twins, 97* inherited resistance, 95, 96* Anticonvulsants, sensitivity, 94 Antigen-antibody reactions (see Histocompatibility; Transplants) Antigens dose-response relationship, 171 recognition of, by В and T cells, 177,178 Antigens, human identification of, 189, 190 Antigens, synthetic mouse experiments, 172 rabbit experiments, 171 structures, 172* Antenatal diagnosis (see Prenatal diagnosis) Antipyrine metabolism, twin studies, 97 Anti-Rh prophylaxis clinical trials, 265-268, 268* gamma globulin, 265-268, 269* programs, large-scale, 268 and renal transplantation, 270 Apoenzyme, coenzyme, holoenzyme, definitions, 74 (see also Vitamins) Argininemia, treated with Shope papilloma virus, 276 Argininosuccinic aciduria, 250* screening test for, 232, 234 synopsis, 278* Arias, I. M.: Genetic Disorders in Bilirubin Metabolism, 123-129 Aronson, S., 255, 256 Arthritis in alkaptonuria, 69 in Lesch-Nyhan syndrome, 109 Ascorbic acid, in pku, 240 Asexual ateliotic dwarfism (see Panhypopituitary dwarfism) Ataxia-telangiectasia syndrome (Louis-Bar), 46, 222* Atkin, 40 Autoimmune mechanisms immune response system, 181 in sex chromosome disorders, 23 Automated screening, 229-231, 229*, 230*,231* Autosomal defects, 3-14 Autosomal dominant conditions counseling, 223* list of, 222* congenital aniridia as typical pedigree, 224* Autosomal recessive conditions counseling, 223* list of, 222* Autoradiography, 6*, 27 В в (bone marrow) cells and antibody response, 169, 176,177* T-cell interaction, 176 Bo-responsive anemia, 73 Bach, M. L. and Bach, F. H.: The Genetics of Histocompatibility, 183-195 Bacterial inhibition assays, 233*, 234* Enzyme-Auxotroph Assay, 234 Bailey, 191, 192 291