Biomedical subjects
A G Motulsky
Publications and source records attributed to A G Motulsky.
The HLA complex and disease: some interpretations and new data in cardiomyopathy.
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New clinical implications of molecular genetics.
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Renal involvement in hereditary multiple osteolysis.
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Sounding board. Biased ascertainment and the natural history of diseases.
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Multifactorial inheritance and heritability in pharmacogenetics.
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Pharmacogenetics and ecogenetics: the problem and its scope.
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Bioethical problems in pharmacogenetics and ecogenetics.
Many societal and bioethical problems are raised when our knowledge of genetic variation is translated into public policy. The various dilemmas faced by imperfect knowledge are discussed. The difficulties of issuing regulations in the face of uncertain scientific knowledge are considerable. Potential variation in nutritional requirements due to biochemical variation needs to be faced by nutritional scientists and policy makers. The problems of discrimination against carriers of the currently testable genetic traits are discussed. Screening of workers susceptible to industrial injury for genetic reasons is being started. However, industry may escape its responsibilities for industrial hygiene by concentrating on susceptibility testing--often in the face of poor data. A variety of other issues such as the "false positive" test and genetic identity cards are discussed. Public policy dealing with human genetic variation must be based on accurate genetic data. At that point, careful assessment of the societal impact of the policy needs to be considered before implementation. Problems of coping with human genetic variation are of increasing importance for developed societies but remain a low priority item for developing societies that face current problems of malnutrition and infectious disease.
The William Allan Memorial Award presented to Victor A. McKusick at the annual meeting of the American Society of Human Genetics.
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Medical and human genetics 1977: trends and directions.
Our field is in a rapid state of evolution. The broader concerns of human genetics not of immediate medical interest such as behavioral genetics are often investigated by persons not trained or identified as human geneticists. Both medical genetics and human genetics in general have prospered when various biologic techniques have been applied to genetic concepts. A search for novel biologic methods may provide new insights and may bridge the gulf between Mendelian and biometric approaches in studies of behavior and of common diseases. Medical geneticists need to broaden their fields of interest to encompass other fields than those of pediatric interest alone. We need to attract more basic scientists. Our field is evolving from a largely research oriented science to a service-oriented specialty. This logical development is a sign of increasing maturity and makes available to the public the results of our research. The resulting stresses and strains need careful watching to prevent their slowing the momentum of our science which can contribute continued insights into the many problems of behavior, health, and disease.
The George M. Kober lecture: a genetical view of modern medicine.
A genetic approach to medicine provides a powerful concept for understanding of the etiology of many diseases. Significant investigative and therapeutic advances have already been made in the chromosomal and Mendelian diseases using genetic concepts which initially were discovered completely unrelated to medicine. The combination of unfettered basic biomedical research together with family and population studies is likely to bring new insights to understanding, prevention and treatment of the yet poorly understood multifactorial diseases which represent the greatest public health problems in the Western world. Identification of specific genes involved in susceptibility and resistance to these diseases and their interaction with various environmental factors will allow a more rational preventive medicine in the future.
Sudden infant death syndrome: normal QT interval on ECGs of relatives.
Genetically determined prolongation of the QT interval on ECGs has been proposed as one basic pathogenetic mechanism for the sudden infant death syndrome (SIDS). ECG studies in a total of 108 first-degree relatives of 26 patients with this syndrome in comparison with 99 such subjects from 22 control families failed to show any significant differences in the QT interval in these two groups. Hereditary prolongation of the QT interval is therefore unlikely to be a significant factor in the etiology of the vast majority of cases of SIDS.
Current concepts in genetics. The genetic hyperlipidemias.
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Aberrant axillary breast tissue: A report of a family with six affected women in two generations.
A family with bilateral accessory axillary breasts without nipples or areolae in six adult females of two generations is reported. The anomaly is most likely caused by an autosomal dominant gene of variable expressivity which prevents normal regression of the embryonal mammary ridge. Accessory breasts with and without nipples and areolae have been seen in another family in the literature. In the absence of areolae or nipples the trait will usually be undetectable in prepubertal females and in males of all ages.
Evidence for diabetes mellitus and genetic forms of hypertriglyceridemia as independent entities.
Among 91 index cases whose diagnosis of a genetic type of hypertriglyceridemia was based on family studies, 27% had diabetes. To determine whether the familial forms of hypertriglyceridemia and genetic diabetes mellitus are inherited together or independently, the adult first degree relatives of these propositi were investigated for the presence of diabetes. Frequency of diabetes in first degree relatives of the 25 diabetic patients with a familial form of hypertriglyceridemia was identical whether such relatives were hyperlipidemic or not (13% versus 14.7%). The frequency of diabetes in both the hyperlipidemic and normolipidemic relatives of the 66 nondiabetic hypertriglyceridemic index cases also was not significantly different from each other (6.2% versus 4.0%). These results indicate that while diabetes is frequently associated with hypertriglyceridemia, genetic hypertriglyceridemia, per se, does not carry an increased risk of diabetes. Following treatment of diabetes, elevated triglyceride levels in index cases with both familial hypertriglyceridemia and untreated diabetes returned to lower but still elevated levels resembling those of affected (hypertriglyceridemic) relatives. Thus, the interaction of untreated diabetes and a familial form of hypertriglyceridemia determines the level of plasma triglyceride in a patient with both disorders.
Hereditary persistence of fetal hemoglobin, beta thalassemia, and the hemoglobin delta-beta locus: further family data and genetic interpretations.
Three Negro kindreds with hereditary persistence of fetal hemoglobin (HPFH) alone and in combination with various other hemoglobin abnormalities including beta thalassemia are presented. Among 11 offspring of two women heterozygous for both HPFH and the delta chain mutation Hb B2, five inherited the HPFH gene and six inherited the Hb B2 gene. In another kindred, a man inferred to be heterozygous for both HPFH and Hb C had six children; three offsprivg obtained the Hb C gene and three the HPFH gene. Similarly, a woman heterozygous for both Hb S and HPFH transmitted the Hb S gene to one of her two children and the HPFH gene to the other. Thus among 19 offspring, no crossovers between the HPFH locus or the Hb delta-beta locus were observed. These and earlier data are compatible with deletion of the Hb beta and delta loci as the primary event to explain the genetic origin of HPFH. Genetic considerations indicate that the finding of a single person with a hematologically normal phenotype among offspring of heterozygotes for both the African type of HPFH and a Hb beta or Hb delta structural abnormality would invalidate the deletion model.