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PubMed2026

Public opinion survey on heritable human genome editing in South Africa: a study protocol.

Heritable human genome editing (HHGE) presents new possibilities for the prevention of genetic diseases but also raises ethical and societal questions. While international surveys have explored public attitudes, particularly in high-income countries, there is a lack of large-scale empirical data from the Global South. In South Africa, previous work used deliberative public engagement to examine public perspectives. The present study aims to complement this by capturing public opinion through a cross-sectional survey, enabling direct comparison with deliberative findings. This study will recruit 400 adult participants residing in South Africa using targeted Facebook advertisements. A two-phase sampling process will be employed: initial screening for demographic information, followed by stratified sampling to ensure a representative South African population. The opinion survey consists of 19 HHGE scenarios, each explored through private and public moral lenses. Additionally, participants will indicate their interpretation of 'safe and effective' genome editing. Quantitative data will be analysed using descriptive statistics, chi-square tests, and logistic regression. Qualitative responses will undergo thematic analysis using both manual coding and generative AI tools under human oversight. The study includes two stages of informed consent and ensures data confidentiality through strict data handling protocols. Results will be disseminated in peer-reviewed journals and policy forums. The study will also generate a secondary dataset for evaluating AI-assisted qualitative analysis, to be conducted under separate ethical clearance.

Humans↗
PubMed1976

Selection for geotaxis in Drosophila melanogaster: heritability, degree of dominance, and correlated responses to selection.

Selection for geotaxis was carried out with flies from a natural population of Drosophila melanogaster; geotactic behavior was measured by means of a Hirsch classification maze. The population was initally almost neutral to gravity, and it responded to both positive (downward) and negative (upward) selection with a realized heritability of about 0.13. Stabilizing selection toward neutral gravity was carried out simultaneously. At generations 6, 9, and 10, all possibly hybrid crosses between pairs of the selected populations were generated and tested. The geotactic scores of hybrids in generations 6 and 9 were not significantly different from the midparent values, while the scores of hybrids in generation 10 deviated significantly from the midparent values in the direction of positive geotaxis. The frequencies of polymorphic inversions declined in every population during selection, but the population under neutral selection seemed to maintain a higher chromosomal polymorphism than those under positive or negative selection. There was no significant depression of productivity, measured as number of progeny, in any population during nine generations of selection.

Animals↗
PubMed1976

Heritable chromosome aberrations in mammals after exposure to chemicals.

The observation of dividing spermatocytes is routinely used to detect the induction of heritable chromosome aberrations such as reciprocal translocations in the treated animals or in their F1 offspring. 37 compounds have so far been tested for the induction of chromosome rearrangements in spermatogonia. Only 9 gave positive results. However, positive results were observed for all alkylating agents in the F1 test. From these observations it can be concluded that the spermatogonia which are the main germ cell type at risk represent a relatively safe germ cell stage.

Aflatoxins↗
PubMed1977

Heritable catabolic and anabolic disorders of lipid metabolism.

The principal manifestations and metabolic defects in ten heritable disorders of lipid metabolism are discussed. Facile procedures have been developed for the diagnosis of patients with these conditions, the identification of heterozygous carriers, and the prenatal detection of any of these diseases. Enzyme replacement appears promising for patients with Fabry's disease and Gaucher's disease who do not have central nervous system damage. The clinical and biochemical abnormalities that occur in patients with a novel inherited disorder of ganglioside anabolism are described.

Adult↗
PubMed1976

Spontaneous heritable changes leading to increased adipose conversion in 3T3 cells.

When their growth is arrested in culture, susceptible 3T3 fibroblasts differentiate into adipose cells. Different clones form adipose cells with different frequency, depending upon the proportion of susceptible cells they contain. In cultures grown from small inocula, the fat cells appear in clusters formed by colonies of susceptible cells. Study of these clusters indicates the infrequent occurrence of cellular transitions from insusceptible to susceptible state. Beginning with a clone converting to adipose cells with a vary low frequency, it has been possible, by serial selection, to generate subclones which convert with a high frequency. This evolution is due to spontaneous heritable changes affecting susceptibility to the adipose conversion. Presumably, they involve the control of triglyceride synthesis. Early stages of the adipose conversion may be recognized in stained cultures. When triglyceride first begins to accumulate, the highly extended and flattened processes of the cells are probably similar to those of nonfatty cells in the same cultures. As the adipose conversion proceeds, the processes thicken and retract; the cells eventually acquire the rounded shape of the more mature adipose cells.

Adipose Tissue↗
PubMed1978

Strategies for detecting heritable translocations in male mice by fertility testing.

Data from a heritable translocation test were analysed to estimate the best rule for classification of F1 males in normals or partially sterile translocation carriers according to litter size or numbers of live and dead implants per mating. Six rules were compared for classification with up to three litter sizes per F1 male observed. The results indicate that a translocation rate of 2%, or at best of 1%, can be detected with reasonable cost.

Animals↗
PubMed1978

Heritable disorders of connective tissue: Ehlers-Danlos syndrome.

The Ehlers-Danlos syndrome is a relatively common heritable disorder of connective tissue. The cardinal features are cutaneous hyperextensibility, joint hypermobility, bleeding diathesis, and tissue fragility, and these features lead to a large variety of additional manifestations. Of the eight presently described types, four varieties have been found to be caused by defects in the biogenesis of collagen, the major structural protein of the body. Consideration of the clinical features and probable mode of inheritance will permit subclassification of many patients into specific types, and biochemical confirmation is possible for several varieties.

Child↗
PubMed1976

Heritability of personality and behavior pattern.

As part of the National Heart and Lung Institute multicenter study of twins, 190 twin pairs (93 MZ, 97 DZ) residing in California and aged 44-55 years were comprehensively studied for all risk factors for coronary heart disease and for Behavior Pattern Type A or B. Psychological tests included MMPI, CPI, 16 Cattell PF, Gough Adjective Check List (ACL), Thurstone Temperament Schedule (TTS). Heritability at statistically significant levels was found only for scales of TTS. Twelve scales of ACL and five scales of TTS showed significant correlations with Behavior Pattern Type A-B as well as with several risk factors, including blood pressure and serum lipids. Multiple regression equations were constructed for those characteristics accounting for significant and unique portions of the total variance of Type A-B Behavior. The use of certain scales of ACL and TTS may provide a new questionnaire for screening purposes in the assessment of Behavior Pattern Type A-B.

Behavior↗
PubMed1979

Heritability in visual-geometric illusions: a family study.

The Müller-Lyer and Ebbinghaus illusions were tested in 203 mother-father-offspring triads and 303 sibling pairs. Significant familial resemblances were found in all but the overestimated segment of the Ebbinghaus illusion. These results suggest that responses to visual-geometric illusions, mediated by optical or neural interactive mechanisms, show patterns of familial resemblance which may be based upon heritable factors.

Family↗
PubMed1976

Heritabilities and genetic correlations in related dwarf and normal broiler populations.

Heritability estimates were higher for 8-week body weight in dwarf than in normal broiler populations due to the maternal effects of dwarf dams. 2. The dwarfing gene dw did not induce new genetic variability for egg weight, 30-week body weight and age at sexual maturation. 3. Genetic correlation estimates showed that the selection for 8-week body weight will increase egg weight in dwarf pullets more than in normals. 4. Within a dwarf population it should be possible to increase 8-week body weight without influencing the mature size of pullets.

Animals↗
PubMed1978

Transfusion syndrome and the heritability of IQ.

The recent analysis of transfusion syndrome effects by Munsinger (1977) suggests that there is literally no effect of social environment on IQ variation in the population. The detailed analysis of Munsinger's report, however, indicates that his conclusions cannot be supported. Though Munsinger assigned birthweights to separated MZ twin pairs described in the literature, there do not in fact exist birthweight data for most pairs. Further, for some pairs, Munsinger also estimated their IQ's. There is no valid basis for Munsinger's claim that he has detected those separated MZ pairs within which transfusion syndrome occurred. When discussing six studies of birthweights of MZ pairs reared together, Munsinger in each case made transcription errors in selecting data from the original studies. Then he misapplied a statistical formula to the erroneous data, and concluded that inclusion of pairs with large birth-weight differences biased the IQ correlation of MZ's downwards. When Munsinger's own data base is correctly analysed, employing his own procedures, inclusion of pairs with large birthweight differences in fact increases the IQ correlation. There is thus no demonstrable basis for Munsinger's claims about transfusion syndrome and the heritability of IQ.

Birth Weight↗
PubMed1977

Variation and heritability of ocular dimensions. A population study among adult Greenland Eskimos.

Adult Greenland Eskimos from Umanaq town (age 15+) and villages (age 40+) were examined. Optical pachymetry, ultrasonic oculometry, corneal diameter and curvature measurements, and subjective refraction were performed in 5-600 persons. Frequent occurrence of primary angle-closure glaucoma motivated the survey. Age-, sex- and family-variations were studied by linear regression analyses. Conspicuous age effect was found with respect to increase of lens thickness and forward displacement of the lens with age. Almost no age influence was found with respect to increase of lens thickness and forward displacement of the lens with age. Almost no age influence was found with respect to corneoscleral size, i. e. axial length, corneal size and corneal radius of curvature. Conspicuous heritability (h2=0.6-0.8) was found in corneoscleral size parameters as well as lens position, while refractive error showed a much smaller genetic influence.

Adolescent↗
PubMed1976

Elevated plasmz zinc: a heritable anomaly.

An extremely high concentration of zinc in the plasma (hyperzincemia) was found in five out of seven members of one family and in two out of three second generation indiviuals, an indication that the condition is heritable. The excess zinc in the plasma appears to be bound to serum proteins, with no apparent clinical symptoms or abnormalities.

Black People↗
PubMedDate not supplied

Cusp size sexual dimorphism, and the heritability of maxillary molar cusp size in twins.

The data given on the cusp size of maxillary first permanent and second primary molars support the following conclusions. The qualitative literature on cusp size hierarchy requires revision because the quantitative data suggest that the mesiolingual cusp is largest, the distobuccal cusp second largest, the mesiobuccal cusp third largest, and the distolingual cusp smallest. Sexual dimorphism is apparent only when reflected as a collective measure of total occlusal area, a summation of cusp and ridge sizes. Antimere variations are random for individual cusps and collective measures of total occlusal areas mask observable right-side, left-side cuspal variations. Similarly, cross-twin and co-twin analyses of cusp size heritability indicate a low level of hereditary variability.

Female↗
PubMed2026

Beyond Heritable PAH: Pulmonary Hypertension in Genetic Syndromes.

Pulmonary hypertension (PH) may complicate a broad range of genetic syndromes beyond the established spectrum of heritable pulmonary arterial hypertension. Although these conditions are individually rare, together they represent an emerging field at the crossroads of developmental biology, vascular medicine, and precision genomics. In many cases, PH may be the presenting feature or may remain unrecognized because it occurs within complex multisystem disorders involving congenital heart disease, developmental lung abnormalities, parenchymal lung disease, vascular malformations, or extra-pulmonary manifestations. Recent advances in human genetics have expanded the spectrum of genes and syndromes associated with PH, including disorders involving altered lung and vascular development, dysregulated hypoxia signaling, smooth muscle dysfunction, chromosomal abnormalities, and syndromic vasculopathies.In this review, we summarize the main genetic syndromes associated with PH and discuss their underlying mechanisms, clinical phenotypes, diagnostic clues, and therapeutic implications. We paid particular attention to conditions that illustrate the marked heterogeneity of syndromic PH such as FLNA-related disorders, neurofibromatosis type 1, Noonan syndrome, Down syndrome, Alagille syndrome, Cantú syndrome, Chuvash polycythaemia, cobalamin C deficiency, multisystemic smooth muscle dysfunction syndrome, alveolar capillary dysplasia with misalignment of pulmonary veins, and Moya Moya syndrome.

Journal Article↗
PubMed1976

The heritable syndrome of prolonged Q-T interval, syncope, and sudden death. Electron microscopic observation.

A family with the heritable syndrome of prolonged Q-T interval is reported. Three members died suddenly. Six had a prolonged Q-T interval. One had syncopal episodes for four years but has had no syncope since therapy with propranolol was initiated two years ago. The inheritance appears to be autosomal dominant. There was no evidence of hearing defects. Histologic and electron microscopic studies were performed on cardiac tissue from one patient. This is the first report of electron microscopic studies, and the findings suggest a possible defect of calcium metabolism in the myofiber.

Adolescent↗