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PubMed2006

Genetic modification and genetic determinism.

In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

Genetic Determinism↗
PubMed2002

Morphological types of breast cancer in family members and multiple primary tumours: is morphology genetically determined?

BACKGROUND: We conducted the present study to determine whether breast cancer morphology is genetically determined. METHODS: Using the nationwide Swedish Family Cancer Database, which includes data on 10.2 million individuals and over 25,000 morphology-specific breast cancers, we followed morphological types in familial cancers between mothers and daughters and between sisters. Additionally, we recorded morphological data in women who presented with two primary breast cancers and in those who presented with an invasive and in situ breast cancer. We used kappa statistics to examine the association between genetics and morphology. A kappa value of 0 indicates that the process is random and a value of 1 indicates that it is completely determined (i.e. genetic); values between 0.40 and 0.60 are considered to indicate a moderately determined process. RESULTS: The study sample included a total of 25,730 first and 3394 second invasive breast cancers, and 2990 in situ breast cancers. Ductal, lobular, tubuloductal and comedo were the most common invasive types. We identified 164 mother-daughter pairs with breast cancer of a defined morphology, yielding a low kappa value of 0.08. Among 100 sister pairs the kappa value was 0.002. In individuals with two primary breast cancers the kappa values were 0.22 and 0.01 for two invasive and in situ-invasive pairs, respectively. However, for a tumour with a subsequent tumour detected in the contralateral breast less than 1 year later the kappa value was 0.47. CONCLUSION: The data suggest that breast cancer morphology is not genetically determined. However, because of mixed morphologies and the overwhelming prevalence of ductal morphology, the results for rare morphologies should be interpreted with caution.

Adenocarcinoma, Mucinous↗
PubMed1989

Localization, cloning, and expression of genetic determinants for bacteriophage resistance (Hsp) from the conjugative plasmid pTR2030.

Genetic determinants for a bacteriophage resistance mechanism (Hsp+) encoded by plasmid pTR2030 (46.2 kilobases [kb]) were localized by mapping an 11.5-kb deletion that accompanied the transition of Lactococcus lactis LMA12-4 transconjugants (M. E. Sanders, P. J. Leonard, W. D. Sing, and T. R. Klaenhammer, Appl. Environ. Microbiol. 52:1001-1007, 1986) from phage resistance to phage sensitivity. The deleted 34.7-kb replicon (pTR2023, Hsp-) retained its conjugative ability, demonstrating that the phage resistance and conjugal transfer determinants were genetically distinct. The Hsp region of pTT2030, which was contained within a 13.6-kb BglII fragment, was cloned into the BamHI site of bacteriophage lambda EMBL3, and Hsp was subcloned into the Escherichia coli-Streptococcus shuttle vector pSA3. The recombinant plasmids pTK6 and pTK9 were recovered in E. coli HB101 and contained a 13.6-kb insert in opposite orientations. L. Lactis MG1363 transformants carrying pTK6 or pTK9 exhibited a significant reduction in plaque size, in addition to a slight reduction in the efficiency of plaquing for both prolate and small isometric phages. Phenotypic reactions observed for the recombinant plasmids suggest that pTR2030-encoded Hsp acts similarly against both prolate and small isometric phages. Tn5 mutagenesis was used to define the region essential for the expression of the Hsp+ phenotype. Any of four insertions within a 3-kb region resulted in the loss of phage resistance, whereas a further 26 insertions outside this locus had no effect on Hsp expression. In vitro deletion analysis confirmed that the 3-kb region contained all the information necessary for the observed resistance.

Bacteriophages↗
PubMed1991

Influence of amiodarone on genetically determined drug metabolism in humans.

Amiodarone has been shown to interact with the nongenetically determined hepatic elimination of several drugs, including phenytoin and digoxin. Its influence on genetically determined metabolic pathways has not been studied in humans. We examined the effects of oral amiodarone therapy on the genetically determined metabolism of isoniazid (N-acetyltransferase), mephenytoin (cytochrome P450MEPH), and dextromethorphan (CYP2D6). Eight patients with arrhythmias were studied before and 76 +/- 16 days after amiodarone (loading dose of 1000 mg/day for 10 days followed by a maintenance dose of 200 to 400 mg/day). Genetically determined enzyme activity was assessed indirectly by calculating the metabolic ratio (parent drug/metabolite in 8-hour urine for CYP2D6 and P450MEPH and N-acetylisoniazid/isoniazid in plasma for N-acetyltransferase) after oral administration of the parent compounds. At the time of phenotyping, plasma concentrations of amiodarone and N-desethylamiodarone were 0.66 +/- 0.35 micrograms/ml and 0.65 +/- 0.26 micrograms/ml, respectively. Amiodarone increased the log(metabolic ratio) of dextromethorphan from a median of -2.5 (range, -2.9 to -2.0) to a median of -1.9 (range, -2.5 to -1.5; p less than 0.02) but did not alter the metabolic ratio of mephenytoin or isoniazid. The amount of dextromethorphan excreted in urine increased from a median of 0.084 mumol/8 hours (range, 0.041 to 0.161 mumol/8 hours) to a median of 0.205 mumol/8 hours (range, 0.064 to 0.288 mumol/8 hours; p less than 0.02) and the amount of its metabolite (dextrorphan) tended to decrease from a median of 26 mumol/8 hours (range, 15 to 37 mumol/8 hours) to a median of 20 mumol/8 hours (range, 7 to 27 mumol/8 hours; p less than 0.09).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1987

[Genetic determinants of resistance to antibiotics in Pseudomonas bacteria].

Seven hundred and eighty nine drug resistant strains of Pseudomonas isolated in hospitals, from antibiotic production sewage and mine soils were studied in experiments on colony hybridization with the use of 32P-labeled plasmid DNA fragments containing various antibiotic resistance genetic determinants. The genes controlling production of aminoglycoside-3'-phosphotransferase, aminoglycoside-3'-adenilyl transferase, type I dihydropteroate synthetase (DHPS I) and DHPS II were detected in the strains of all the ecological niches. More than 90 per cent of the clinical strains hybridized with the samples containing these genes, though in the soil strains the main mechanisms of streptomycin and sulfanilamides resistance were probably controlled by the other nonhomologous genetic determinants studied. The gene controlling production of aminoglycoside-3'-phosphotransferase II was detected in the strains isolated both in the hospitals (49 per cent) and from the sewage (45 per cent), while the gene of aminoglycoside-3'-phosphotransferase I was detected only in the population of the clinical strains (52 per cent). The majority of the tetracycline resistant strains isolated in the hospitals and from the sewage hybridized with the samples containing the classes A and C tetracycline resistance genetic determinants. In the soil strains the genetic determinants of the main tetracycline resistance mechanism(s) were not homologous to those of classes A, B and C. Resistance of the strains to trimetoprine was as a rule determined by the genes of type II dihydrofolate reductase.

Anti-Bacterial Agents↗
PubMed1989

Alpha- and beta-adrenoceptors in hypertension. II. Platelet alpha 2- and lymphocyte beta 2-adrenoceptors in children of parents with essential hypertension. A model for the pathogenesis of the genetically determined hypertension.

To study whether changes in alpha- and beta-adrenoceptors in human essential hypertension (EHT) might be genetically determined, we assessed platelet alpha 2- and lymphocyte beta 2-adrenoceptor density in 48 normotensive children of normotensive parents (NT) and in 41 normotensive children with one EHT-parent. Both groups did not differ in age, body weight and height, blood pressure, heart rate, plasma catecholamine levels, plasma renin activity (PRA), and lymphocyte beta 2-adrenoceptor density. Platelet alpha 2-adrenoceptor density, however, was in EHT-children significantly higher than in NT-children. In NT-children, platelet alpha 2-adrenoceptors were significantly, inversely correlated with PRA, indicating that they might mirror renal alpha 2-adrenoceptors which inhibitorily regulate renin release. In contrast, in EHT-children PRA was not at all related to platelet alpha 2-adrenoceptors, suggesting an early (even in the normotensive stage) disturbance of the alpha 2-adrenoceptor-mediated regulation in renin release. From these results and those obtained in the experimental rat models of acquired hypertension, a model for the pathogenesis of the genetically determined hypertension is proposed in which a very early step in the development of hypertension is a genetically determined increase in renal alpha-adrenoceptors that causes enhanced sodium retention. This initiates a chain of events that finally results in increased peripheral vascular resistance and, hence, blood pressure. On the other hand, beta-adrenoceptor changes seem to be secondary phenomena due to the elevation in blood pressure.

Adolescent↗
PubMed2003

Epidemiological significance of Hoffmeister's "Genetically determined predisposition to disturbed development of the dentition".

BACKGROUND AND AIM: Hoffmeister was the first to recognize the common genetic origin of structurally very varied disturbances in the development of the dentition. He coined the term "microsymptoms of a genetically determined predisposition to disturbed development". The purpose of the present study was to examine the incidence of those microsymptoms in a group of patients undergoing orthodontic treatment. PATIENTS AND METHODS: The orthodontic findings in 4208 patients were evaluated, and nine characteristic symptoms were registered with reference to the panoramic and other radiographs and to the patients' records. RESULTS: 1297 patients (30.8%) were found to have one or more symptoms of genetically determined predisposition to disturbed development. The most frequent symptoms were atypical position of tooth buds (12.2%), absence of tooth buds of permanent teeth (9.2%), and displaced teeth (7.0%). 73.5% of the patients had only one symptom, and 26.5% two or more. Microdontia and displaced teeth were associated particularly frequently with other symptoms of predisposition to disturbed development. Genetically determined predisposition to disturbed development of the dentition is accordingly not rare but is of great epidemiological significance and may provide early indications of potential developmental disorders such as missing tooth buds or displacement of teeth.

Adolescent↗
PubMedDate not supplied

Ethnic difference in osteoporosis-related phenotypes and its potential underlying genetic determination.

Osteoporosis is a serious health problem in both Caucasians and Asians. Caucasians and Asians are two distinct major ethnic groups, which may have differential genetic determination underlying complex genetic diseases such as osteoporosis. However, to date, there has been no systematic review focusing on the aspect of ethnic difference in risk to osteoporosis and its potential underlying genetic determination between Asians and Caucasians. Here, we firstly review diverse aspects of osteoporosis-related differences, including the differences of epidemiology of osteoporotic fractures, peak bone mass, bone loss, bone area, bone geometry and drug treatment response between Asians and Caucasians. Then, we provide some potential genetic evidence on the different heritability and inheritance mode of bone phenotypes, the different osteoporosis candidate genes and the differential results in related molecular studies between them, to explain the above osteoporosis-related phenotypic differences. The results suggest that the osteoporosis-related phenotypic differences between Asians and Caucasians may be partially the result of the different ethnic genetic background. The present review may increase our understanding of potential different mechanisms related to ethnicity in pathogenesis of osteoporosis for effective and potentially customized treatments in different major ethnic groups.

Adolescent↗
PubMed1992

Genetically determined factors as predictors of radiological change in patients with early symmetrical arthritis.

OBJECTIVE: To determine whether genetic factors associated with established rheumatoid arthritis could, in combination with rheumatoid factor, predict the development of radiological erosions in patients with early symmetrical (rheumatoid-like) arthritis. DESIGN: Prospective study. SETTING: Teaching hospital, early arthritis clinic. SUBJECTS: Forty nine patients with symmetrical polyarthritis attending the early arthritis clinic. MAIN OUTCOME MEASURES: Conserved sequence of DR beta third allelic hypervariable region, sulphoxidation capacity, rheumatoid factor, and development of radiologically determined bone erosions. RESULTS: None of the 49 patients had radiological erosions at presentation but 25 developed these by four years. Patients with the conserved class II major histocompatibility complex (third allelic hypervariable of DR beta 1) genes associated with rheumatoid arthritis had a relative risk for the development of erosions of 1.9 (95% confidence interval 0.8 to 4.5). For poor sulphoxidation the risk was 2.5 (1.1 to 5.6) and for the presence of rheumatoid factor 1.8 (0.9 to 3.7). Of the 33 patients who had two or three of these risk factors, 24 developed erosions, with a relative risk of 11.6 (1.7 to 78.5) compared with only one of the 16 individuals with no or one risk factor. CONCLUSIONS: This preliminary study shows that by using these stable markers it is possible to make clinically useful predictions of outcome in patients with early symmetrical inflammatory arthritis.

Acute-Phase Reaction↗
PubMed1975

Genetic determinants of alcohol addiction.

Animal and human studies indicate strain, species, and racial differences in biological responses to alcohol. Presumably, these are at least partly determined by genetic factors. However, until recently there has been little evidence suggesting that the condition called alcoholism is influenced by genetic factors. Although alcoholism is strongly familial (about one quarter of male relatives of alcoholics are themselves alcoholic), the condition is also associated with vocational and ethnic differences and at present there is no consistent evidence linking alcoholism to specific biochemical abnormalities. In recent years, however, an increasing body of evidence has suggested that genetic factors may play a role. These studies generally have been of two types: (1) twin and adoption studies, and (2) genetic marker studies. Two twin studies have been conducted. One indicated that monozygotic twins are more concordant for alcohol problems than are dizygotic twins. The other produced equivocal findings. Genetic marker studies have had inconsistent results. Of two adoption studies conducted, one found evidence for a hereditary factor and the other did not. It is hypothesized that severe forms of alcoholism may be heritable while milder forms have nongenetic origins. The virtues and limitations of the various studies are discussed.

ABO Blood-Group System↗
PubMed2003

Genetic risk factors for erectile dysfunction and genetic determinants of drug response--on the way to improve drug safety?

Association studies give hint for the fact that the risk to develop cardiovascular disorders such as hypertension or coronary heart disease is influenced by the genotype in single nucleotide polymorphisms (SNPs). Considering the close relationship in the pathophysiology of these diseases and erectile dysfunction (ED), the analysis of the association of genotypes in SNPs and ED stands to reason. In an analysis of ED patients and their genotypes in the GNB3 C825T, the ACE I/D and the NOS3 G894T polymorphisms, there was no evidence for influence of the genotypes on the susceptibility to develop ED. At the same time, a significant variation in drug response to sildenafil dependent on the genotypes in the GNB3 C825T and ACE I/D polymorphisms was demonstrated. In the group of GNB3 825C allele carriers, only 50% of patients showed a positive response, while > 90% of the patients genotype TT responded adequately. In parallel, only 50% of ACE D allele carriers showed a positive response to sildenafil in contrast to men genotype II in the ACE I/D polymorphism, who had a response rate of 75%. Considering cardiovascular side effects under sildenafil treatment, it would be interesting to determine if genetic factors have an impact on the side effect profile of this drug.

Angiotensin I↗
PubMed1998

Evidence that the age at diagnosis of IDDM is genetically determined.

OBJECTIVE: The aim of this study was to determine the impact of genetic or environmental factors on the age or time of onset of IDDM by studying pairs of twins and siblings concordant for the disease. RESEARCH DESIGN AND METHODS: From 404 twin pairs referred to a diabetic twin study, we selected pairs concordant for IDDM: 1) 116 identical pairs with an index twin diagnosed diabetic under age 60 years and 2) 12 identical and 12 nonidentical matched twin pairs. From 972 families referred to a population-based diabetic family study, we selected sibling pairs with IDDM: 33 pairs with an index case diagnosed diabetic under age 21 years. Twin and sibling pairs were analyzed for intraclass correlations for age and time of diagnosis. RESULTS: Of twins concordant for IDDM, the age at diagnosis correlated 1) in 116 identical pairs (R = 0.94; P < 0.000001) and 2) more closely in 12 identical twins (R = 0.96, P < 0.000001) than 12 nonidentical twins (R = 0.59, P = 0.046). Of 33 sibling pairs with IDDM, the age, but not the time, of diagnosis was correlated (R = 0.53, P = 0.0016). CONCLUSIONS: Correlations within pairs of twins and siblings for age, not time, at diagnosis suggest that much of the variability of the age at diagnosis of IDDM is genetically determined.

Adolescent↗
PubMed1966

Genetic determination of the O antigens of Salmonella groups B (4,5,12) and C1(6,7).

Mäkelä, P. Helena (University of Helsinki, Helsinki, Finland). Genetic determination of the O antigens of Salmonella groups B (4,5,12) and C(1) (6,7). J. Bacteriol. 91:1115-1125. 1966.-The genetic determination of the O antigens of Salmonella was studied by Hfr or F' crosses between strains of groups B (antigens 4,5,12) and C(1) (antigens 6,7). The main genetic determinants of the specificities 4 of group B and 7 of group C(1) behaved as alleles of one locus, called O or O-4/7. This is probably identical with O-4/9, responsible for the serological difference between groups B and D, and with the "rough" locus rouB. At least parts of the antigens 12 of group B and 6(2) of group C are determined at the same locus. The gene O-5 is closely linked to O-4/7, both mapping in the approximately 2 minutes distance between his and metG in the order his - O-4/7 - O-5 - metG. In crosses of group B donors with group C(1) recipients, a serologically new type, called semirough (SR), appeared in most recombinants that had inherited the O-4 allele of the group B donor. These SR forms are serologically intermediate between smooth and rough forms, showing poor stability in saline but possessing the specificities 4 and 12 and (some of them) 5. On the basis of previous biochemical studies, the hypothesis has been put forward that the side chains of their lipopolysaccharide are much shorter than normal group B side chains, probably containing only one repeating unit per side chain. A gene SR-4 responsible for the elongation of group B side chains beyond the first repeating unit was mapped between gal and try, group B and D bacteria being Sr-4(+), and group C being SR-4(-).

Agglutination Tests↗
PubMed1984

Genetic determinant of pyocin AP41 as an insert in the Pseudomonas aeruginosa chromosome.

The genetic determinant for pyocin AP41 , a bacteriocin produced by Pseudomonas aeruginosa PAF, was transferred to P. aeruginosa PAO and analyzed. By conjugation experiments, the pyocin determinant was found to be located on the chromosome, being closely linked to argG at about 45 min on the genetic map. Cloning of the pyocin AP41 gene into the plasmid R68.45 was attempted in vivo by taking advantage of its linkage at argG. R' argG+ plasmids were isolated by interspecific conjugation between P. aeruginosa and Escherichia coli recA argG strains. Some of the R' argG+ plasmids did contain the pyocin AP41 determinant. Genetic and physical analyses of these R' plasmids indicated that the pyocin AP41 determinant was located within a 2.9-kilobase extra segment found at a certain position of the chromosome of various pyocin AP41 producer strains.

Bacteriocins↗
PubMed2007

Characterization and distribution of Pogonomyrmex harvester ant lineages with genetic caste determination.

Genetic caste determination has been described in two populations of Pogonomyrmex harvester ants, each comprising a pair of interbreeding lineages. Queens mate with males of their own and of the alternate lineage and produce two types of diploid offspring, those fertilized by males of the queens' lineage which develop into queens and those fertilized by males of the other lineage which develop into workers. Each of the lineages has been shown to be itself of hybrid origin between the species Pogonomyrmex barbatus and Pogonomyrmex rugosus, which both have typical, environmentally determined caste differentiation. In a large scale genetic survey across 35 sites in Arizona, New Mexico and Texas, we found that genetic caste determination associated with pairs of interbreeding lineages occurred frequently (in 26 out of the 35 sites). Overall, we identified eight lineages with genetic caste determination that always co-occurred in the same complementary lineage pairs. Three of the four lineage pairs appear to have a common origin while their relationship with the fourth remains unclear. The level of genetic differentiation among these eight lineages was significantly higher than the differentiation between P. rugosus and P. barbatus, which questions the appropriate taxonomic status of these genetic lineages. In addition to being genetically isolated from one another, all lineages with genetic caste determination were genetically distinct from P. rugosus and P. barbatus, even when colonies of interbreeding lineages co-occurred with colonies of either putative parent at the same site. Such nearly complete reproductive isolation between the lineages and the species with environmental caste determination might prevent the genetic caste determination system to be swept away by gene flow.

Animals↗
PubMed1971

The analysis of genetically determined hair defects.

A classification of genetically determined hair defects based on pathophysiologic considerations is presented to facilitate research in this area. The categories in the classification are: 1) hair with periodic defects in structure; 2) complete or partial failure of hair development manifested by sparseness; 3) hairs with structural protein abnormalities and 4) defective hairs associated with metabolic defects. The methodologies for the study of hair are discussed including a new technic to directly measure Young's modulus of elasticity. A new autosomally dominantly inherited disorder with sparse hair and milia is presented.

Amino Acids↗
PubMed1987

[Genetic determinants of antibiotic resistance in bacteria of the genus Salmonella].

Distribution of genetic determinants of resistance to streptomycin, kanamycin, chloramphenicol, tetracycline, sulfanilamides and trimethoprim in strains of Salmonella isolated from studied. The majority of the resistant strains carried the genes of aminoglycoside-3"-phosphotransferase, type I aminoglycoside-3'-phosphotransferase, type I chloramphenicol acetyltransferase and type II dihydropteroate synthetase. Tetracycline resistance in the strains was often due to the class B tetracycline resistance genetic determinants. It was suggested that the resistance mechanisms controlled by these genes provided higher levels of resistance to the above drugs in Salmonella as compared to the other mechanisms. Plasmid resistance genes were detected in more than 90 per cent of the clinical strains and in 35 per cent of the sporadic strains of S. typhimurium. The antibiotic resistance of the Salmonella strains of other serovars was not as a rule controlled by the plasmid genes.

Animals↗