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PubMed1995

A critique of the possibility of genetic inheritance of homosexual orientation.

Many workers in human sexuality have tried to discover causes of sexual orientation. No one theory has proved to be satisfactory. Studies of monozygotic and dizygotic twins, some of whom have been reared separately and some together, suggest that there may be an inherited component of homosexuality. Other studies, particularly those concerned with the evolution of human sexuality, question such a possibility. A further question arises because a large part of the human population is neither exclusively homosexual nor exclusively heterosexual. This paper will examine the evidence for genetic inheritance presented by twin and family studies. It will explore ways in which a gene favoring a homosexual orientation but not reproduction could continue to exist in a population. The importance of defining terms that refer to sexual orientation will be discussed in the context of determining exactly what may be inherited. Finally, the effects of accepting genetic inheritance as the cause of sexual orientation will be discussed.

Female↗
PubMed2002

Molecular biological and genetic approaches to the evaluation of inherited electrophysiologic disorders.

Although previously thought of as sporadic errors in development, some arrhythmias are now established to have a hereditary basis. The genetic and molecular bases of inherited cardiac arrhythmias are being recognized with increased frequency. Environmental and somatic influences may complicate classical identification of the patterns of inheritance. In several examples of inherited heart disease with a distinct molecular and genetic foundation, multiple gene defects appear to be responsible for similar phenotypes. In addition, specific genotypes may lead to differing severity of phenotype and differential prognostic risks. There is also variability in phenotypic expression, even among identical genotypes within a family, complicating risk stratification. Improved understanding of rare familial arrhythmia disorders may increase our overall comprehension of the pathophysiology of rhythm disturbances in general. The inherited arrhythmia disorders can be classified under three broad headings -- those familial arrhythmias that originate above the ventricles, familial arrhythmias originating within the ventricles and familial disorders affecting impulse propagation and cardiac conduction. Familial occurrences of tachyarrhythmias and bradyarrhythmias have been reported for each of these types of disorders. Recent discoveries of genetic etiologies have shed new light on the mechanisms underlying arrhythmogenesis and molecular genetics of cardiac electrophysiology.

Animals↗
PubMed2007

Delayed development of Paget's disease in offspring inheriting SQSTM1 mutations.

UNLABELLED: Familial Paget's disease is associated with mutations in SQSTM1. We compared the age at diagnosis and severity of Paget's disease in parents with SQSTM1 mutations to their offspring who inherited a mutation. At any given age, the offspring were less likely to be diagnosed with Paget's disease and had less severe disease than their parents. INTRODUCTION: Mutations in sequestosome 1 (SQSTM1) occur in 25-50% of cases of familial Paget's disease and are thought to be disease-causing. We sought to determine whether there are differences in age at diagnosis and severity of disease in parents and their offspring who share the same genetic predisposition to Paget's disease. MATERIALS AND METHODS: Eighty-four offspring from 10 families (29 index patients with Paget's disease) with mutations in SQSTM1 were approached, and 58 agreed to participate. The ubiquitin-binding domain region of SQSTM1 was sequenced, and the presence or absence of the known mutation was established. The presence of Paget's disease in offspring who had inherited an SQSTM1 mutation was determined by bone scintigraphy and measurement of serum alkaline phosphatase (ALP). RESULTS: Twenty-three of 58 offspring had inherited a germline mutation in SQSTM1. The mean ALP was 77 U/liter in offspring with mutations and 72 U/liter in those without mutations (p=0.84). Scintiscans from four offspring (mean age, 45 years; mean ALP, 139 U/liter; mean skeletal involvement, 6%) showed evidence of Paget's disease but were normal in the other 19 (mean age, 44 years; mean ALP, 64 U/liter). In comparison, in the 15 parents of the 23 offspring, the mean age of diagnosis was 48 years, the mean ALP was 850 U/liter, and the mean skeletal involvement was 30%. There was a 63% reduction in the risk of being diagnosed with Paget's disease at a comparable age in the offspring compared with the parents (p=0.028). CONCLUSIONS: Only 17% of offspring inheriting an SQSTM1 mutation had evidence of Paget's disease on scintigraphy, and this was diagnosed at a later age and was less extensive than in their affected parents. SQSTM1 thus shows incomplete penetrance. The data are consistent with the hypothesis that an environmental factor is important in the pathogenesis and clinical phenotype of familial Paget's disease and that exposure to this factor may be falling.

Adaptor Proteins, Signal Transducing↗
PubMed2005

A Bayesian approach for discriminating among alternative inheritance hypotheses in plant polyploids: the allotetraploid origin of genus Borderea (Dioscoreaceae).

Polyploidy is a common phenomenon occurring in a vast number of land plants. Investigations of patterns of inheritance and the origins of plants (i.e., autopolyploidy vs. allopolyploidy) usually involve cytogenetic and molecular studies of chromosome pairing, chromosome mapping, and marker segregation analysis through experimental crosses and progeny tests. Such studies are missing for most wild species, for which artificial crosses are difficult, not feasible, or unaffordable. We report here a Bayesian method to discriminate between alternative inheritance patterns in the two extant, tetraploid species of the monocot genus Borderea (Dioscoreaceae), which does not involve progeny array tests. Our approach is based on the screening of a large number of SSR genotypes, which were obtained from successful amplifications of 17 microsatellite regions in individuals of both B. chouardii and B. pyrenaica. We tested for tetrasomic vs. disomic modes of inheritance, using the Bayes factor test. Assignment of genotypes under both alternatives could be unequivocally done for 14 and 11 of the 17 studied microsatellite regions in B. chouardii and B. pyrenaica, respectively, totaling 9502 analyzed genotypes. The comparison of posterior probabilities for the two competing hypotheses across the surveyed loci clearly favored a disomic inheritance pattern. Linkage tests indicated that none of the studied SSR loci were in linkage disequilibrium, thus representing independent samples of the Borderea genome. These results, along with previous allozyme data, support the allotetraploid origin of this paleoendemic genus and reveal the lowest reported chromosome base number for the family of the yams.

Bayes Theorem↗
PubMed2006

Inheritance of resistance to the Cry1Ab Bacillus thuringiensis toxin in Ostrinia nubilalis (Lepidoptera: Crambidae).

Laboratory selection with Cry1Ab, the predominant Bacillus thuringiensis (Bt) toxin in transgenic corn, Zea mays L., produced >1000-fold resistance in two laboratory strains of European corn borer, Ostrinia nubilalis (Hübner). We tested the offspring of various crosses to determine the mode of inheritance of resistance to Cry1Ab. Patterns of inheritance of resistance were similar in the two resistant strains. The progeny of reciprocal F1 crosses (resistant male x susceptible female and vice versa) responded alike in bioassays, indicating autosomal inheritance. The median lethal concentrations (LC50 values) of F1 were intermediate between the resistant and susceptible parents, indicating approximately additive inheritance. However, the dominance of resistance increased as the concentration of Cry1Ab decreased. Analysis of progeny from backcrosses (F1 x susceptible strain) suggests that resistance was controlled by more than one locus. In particular, the fit of observed to expected mortality improved as the number of putative loci increased from 1 to 10. The polygenic nature of resistance in these two laboratory strains suggests that major genes for resistance to Cry1Ab were not common in the founding populations of O. nubilalis. A low initial frequency of major genes for Cry1Ab resistance might be an important factor in delaying evolution of resistance to Bt corn in this pest.

Animals↗
PubMed2004

Inheritance and mechanism of resistance to Bacillus sphaericus in Culex quinquefasciatus (Diptera: Culicidae) from China and Brazil.

Investigations on the inheritance and mechanism of resistance to Bacillus sphaericus Neide in Culex quinquefasciatus Say colonies, selected with strains C3-41 (RLCq1/C3-41) and 2362 (CqRL1/2362), were performed in China and Brazil, respectively. The progeny of reciprocal F1 crosses (susceptible female x resistant male and vice versa) from both resistant colonies responded alike in bioassays, indicating recessive inheritance. Data on larvae susceptibility from the backcross offspring between F1 and their respective susceptible and resistant parental colonies are consistent with a monofactorial and autosomal mode of inheritance. In vitro binding assays between 125I binary (Bin2) toxin and the brush border membrane fractions (BBMF) from CqRL1/2362 and RLCq1/C3-41 larvae showed that resistance, in both colonies, is caused by a failure in the binding step of the B. sphaericus Bin2 toxin to its specific midgut receptor. The specific and saturable binding of Bin2 toxin to BBMF from F1 larvae (CqRL1/2362 X susceptible counterpart) confirms the recessive inheritance of the resistance gene. Further studies are needed to advance understanding of B. sphaericus resistance.

Animals↗
PubMedDate not supplied

Epidemiology and inheritance of mitral valve prolapse in Dachshunds.

One hundred ninety consecutive Dachshunds >2 years of age, including 18 families consisting of both parents and 4 or more offspring, were examined clinically and echocardiographically to study the epidemiology and inheritance of mitral valve prolapse (MVP) and other signs of myxomatous mitral valve disease in the dog. From video-recorded echocardiograms, MVP severity, jet size (color Doppler), and leaflet thickness were assessed. With regard to murmur intensity and each of these 3 echocardiographic measurements. the inheritance and the influence of age, gender, coat type, body weight, degree of obesity, heart rate, and thorax dimensions were evaluated. MVP severity correlated positively with age (P < .0001) and heart rate (P = .002), negatively with thorax circumference (P = .0005), and was related to coat type (P = .006). MVP severity progressed faster in males than in females (P = .0002). The other measures of disease severity (jet size, leaflet thickness, and murmur intensity) also correlated positively with age (all P < .0001). When compared in pairs, all 4 measures of disease severity correlated significantly with one other. Pedigree analyses did not disclose agreement with simple Mendelian models, but high disease prevalence made interpretation difficult. Mean parental MVP severity correlated significantly with MVP severity in the offspring (P = .03). The epidemiology of MVP in Dachshunds resembles that of MVP in humans, MVP severity correlates significantly with other measures of the degree of myxomatous mitral valve disease, and MVP is an inherited condition in Dachshunds. A polygenic mode of inheritance is suggested.

Age Factors↗
PubMed1975

A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes of young people.

A difference in the inheritance of diabetes has been shown between the families of twenty-six patients with maturity-onset type diabetes of young people (MODY) and families of thirty-five patients with classical juvenile-onset diabetes (JOD). In the families of MODY: 1) twenty-two of twenty-six (85 per cent) propositi had a diabetic parent; 2) 46 per cent of families showed direct vertical transmission of diabetes through three generations; 3) of forty-seven tested siblings twenty-five (53 per cent) had latent diabetes; 4) the diabetic phenotype in the families was consistent, most affected individuals having a noninsulin requiring type of disease. These findings are compatible with autosomal dominant inheritance of MODY, although they do not exclude multifactorial inheritance. In contrast, in the families of JOD: 1) only four (11 per cent) of propositi had a diabetic parent; 2) three generation inheritance was found in only two (6 per cent) of JOD families, and 3) of seventy-four tested siblings eight (11 per cent) were diabetic. This difference provides further evidence of genetic heterogeneity in diabetes mellitus and indicates that there is a need for careful definition of the phenotype of diabetes in populations in which the genetics of diabetes is to be analyzed. Diabetes 24:44-53, January, 1975.

Adolescent↗
PubMed1994

Higher maternal than paternal inheritance of diabetes in GK rats.

Results from crosses between Goto-Kakizaki (GK) rats, which exhibit spontaneous non-insulin-dependent diabetes mellitus (NIDDM), and outbred nondiabetic Wistar rats have demonstrated an effect of maternal inheritance on diabetes in offspring of the first generation (F1). At 6 weeks of age, F1 offspring of sex-directed crosses exhibited plasma glucose values intermediate between GK and Wistar parents. Hyperglycemia in F1 rats born of female GK rats (F1GK) was more marked than in those born of female Wistar (F1W) rats. At 3 months of age, F1 rats showed a marked impairment of both glucose tolerance and insulin secretion, which was intermediate between GK and Wistar rats. Glucose intolerance was more pronounced in F1GK rats than in F1W. By contrast, insulin secretion in F1W rats was more deteriorated than in F1GK rats. No deletion in mitochondrial DNA was observed in the GK rats, which decreased the possibility of a mitochondrial inheritance effect as an explanation of our findings. These data support a polygenic model in diabetes inheritance of NIDDM and suggest that, in addition to genetic factors, a perturbed maternal metabolism can contribute to its inheritance.

Animals↗
PubMed2002

Inheritance of hypoadrenocorticism in bearded collies.

OBJECTIVE: To assess heritability and mode of inheritance for hypoadrenocorticism in Bearded Collies. ANIMALS: 635 Bearded Collies. PROCEDURES: Dogs were classified as affected by hypoadrenocorticism or unaffected. Phenotypic and pedigree data were analyzed. Heritability was estimated by use of Bayesian statistical methods. Regressive logistic models for complex segregation analyses were used to characterize mode of inheritance. RESULTS: Hypoadrenocorticism was diagnosed in 60 (9.4%) dogs. Heritability of hypoadrenocorticism was estimated to be 0.76 with both sexes affected with equal probability. Evaluation of the pedigrees did not support a Mendelian autosomal dominant mode of inheritance. Evidence from the complex segregation analysis for a single locus of large effect on hypoadrenocorticism was not convincing. CONCLUSIONS AND CLINICAL RELEVANCE: Hypoadrenocorticism in Bearded Collies is highly heritable. Although a precise genetic mechanism responsible for inheritance of the disorder remains undetermined, breeding decisions must include consideration of the genetic likelihood of passing on this deleterious disorder to offspring of affected dams and sires.

Adrenal Insufficiency↗
PubMed2005

Clinical description and mode of inheritance of idiopathic epilepsy in English springer spaniels.

OBJECTIVE: To determine clinical characteristics and mode of inheritance of idiopathic epilepsy (IE) in English Springer Spaniels. DESIGN: Original study. ANIMALS: 45 dogs with IE and 74 siblings and their respective parents. PROCEDURE: IE was diagnosed on the basis of age at the time of seizure onset and results of laboratory testing and neurologic examinations. Simple segregation analysis was performed with the Davie method. RESULTS: Median age at the onset of seizures was 3 years; however, 9 (20%) dogs were between 5 and 6 years old at the time of the onset of seizures. Twenty-one dogs (47%) had generalized seizures, and 24 (53%) had focal onset seizures. Results of segregation analysis were consistent with partially penetrant autosomal recessive or polygenic inheritance. Simulated linkage indicated that there was a 58% chance of obtaining suggestive linkage with the available pedigrees. CONCLUSIONS AND CLINICAL RELEVANCE: Results of the present study suggest that in English Springer Spaniels, IE segregates in a manner that is consistent with partially penetrant autosomal recessive inheritance (ie, a single major locus with modifying genes) or polygenic inheritance. Given enough families with accurate phenotypic information and available DNA, it should be possible to use genetic linkage analysis to identify chromosomal segments containing the causative gene or genes.

Age Factors↗
PubMed1981

Inherited renal disease and genetic counseling.

Inherited renal abnormalities and diseases are less common than acquired disorders. However, they are of great interest because their study results in increased understanding of the embryogenesis and physiology of the kidney, the pathogenesis of acquired disease, improved therapeutic approaches and accuracy of genetic counseling. Inherited defects of the kidney may be structural, functional or part of genetically transmitted systemic diseases that have major effects on renal structure and/or functions. Most structural defects of the kidney, with the exception of varying forms of cystic disease and the hereditary nephritides, are congenital and only rarely inherited in a Mendelian sense. The majority of genetically transmitted abnormalities of proximal and distal tubular function are caused by inborn metabolic errors or enzyme defects and deficiencies. Amniocentesis, ultrasonography and enzymatic assays have made the prenatal diagnosis of many inherited renal diseases possible so that more accurate counseling early therapeutic intervention may be provided.

Adolescent↗
PubMed2003

Current therapeutic strategies for patients with polyneuropathies secondary to inherited metabolic disorders.

Supportive care, symptomatic treatment, and patient education should be provided for patients with inherited or acquired polyneuropathies. In addition, specific treatment is available for many of the acquired polyneuropathies. Genetic counseling is valuable for many patients with inherited polyneuropathies, but only rarely is specific treatment an option for these patients. However, specific treatments are available for many of the rare and devastating systemic disorders associated with polyneuropathies. Thus, clinicians must promptly diagnose these inherited disorders so that specific treatment may be initiated. The clinical features of these rare inherited disorders are emphasized.

Adult↗
PubMedDate not supplied

Gene therapy and inherited dyslipidemia.

OBJECTIVE: To explore the current status and future potential of gene therapy for the inherited dyslipidemias. METHODS: A brief overview of the inherited dyslipidemias, a review of the currently available means of transferring genetic material in vivo, and a discussion of two examples of conditions in which gene therapy may be useful--familial hypercholesterolemia and reduced high-density lipoprotein cholesterol syndromes--are presented. RESULTS: Although substantial progress has been made in the management of inherited dyslipidemia, optimal treatment regimens are not available in all cases. Gene therapy has recently emerged as a potential solution to some of these problems. For gene therapy to be successful, several factors are necessary: an efficient means of gene transfer, long-term transgene expression, and lack of toxicity. Although the feasibility of this approach has been demonstrated, currently available vectors have a number of technical and safety limitations. CONCLUSION: Gene therapy for inherited dyslipidemias has many technical hurdles that must be overcome before it will have widespread clinical application.

Journal Article↗
PubMed1980

Distribution and inheritance of low serum thyroxine-binding globulin levels in Australian Aborigines: a new genetic variation.

Evidence is presented that low serum thyroxine-binding globulin (TBG) levels in Aborigines are widely distributed throughout Australia, and that these are inherited rather than acquired. Levels of TBG in children, and lack of any correlation of low TBG levels with alcohol consumption or liver dysfunction, suggest that the low levels are not acquired in adult life. Genetic studies in eight families indicate (with one exception) an autosomal dominant pattern of inheritance with direct male-to-male transmission. These findings are in marked contrast to the much rarer X-linked pattern of inheritance of low TBG levels in Caucasians. This type of prevalent and inherited low level of TBG in serum appears so far to be unique to the Aboriginal race. The synthesis (or degradation) of TBG may be controlled by an autosomal gene in Aborigines.

Adolescent↗
PubMed1999

Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency.

To analyze inherited antithrombin deficiency as a risk factor for venous thromboembolism in various conditions with regard to the presence or absence of additional genetic or acquired risk factors, we compared 48 antithrombin-deficient individuals with 44 nondeficient individuals of 14 selected families with inherited antithrombin deficiency. The incidence of venous thromboembolism for antithrombin deficient individuals was 20 times higher than among nondeficient individuals (1.1% v 0.05% per year). At the age of 50 years, greater than 50% of antithrombin-deficient individuals had experienced thrombosis compared with 5% of nondeficient individuals. Additional genetic risk factors, Factor V Leiden and PT20210A, were found in more than half of these selected families. The effect of exposure to 2 genetic defects was a 5-fold increased incidence (4.6% per year; 95% confidence interval [CI], 1.9% to 11.1%). Acquired risk factors were often present, determining the onset of thrombosis. The incidence among those with exposure to antithrombin deficiency and an acquired risk factor was increased 20-fold (20.3% per year; 95% CI, 12.0% to 34.3%). In conclusion, in these thrombophilia families, the genetic and environmental factors interact to bring about venous thrombosis. Inherited antithrombin deficiency proves to be a prominent risk factor for venous thromboembolism. The increased risks among those with exposure to acquired risk factors should be considered and adequate prophylactic anticoagulant therapy in high-risk situations seems indicated in selected families with inherited antithrombin deficiency.

3' Untranslated Regions↗
PubMed2000

[Identification of mixed major genes and polygenes inheritance model of quantitative traits by using DH or RIL population].

The accuracy of the mixed inheritance analysis of quantitative traits with larger experimental error could be improved while using DH or RIL population. The segregation analysis method of identifying mixed major genes and polygenes inheritance model, including linkage inheritance model, of quantitative traits by using DH or RIL population was developed in this paper. The method may be applied to identify the mixed major gene and polygenes inheritance model of quantitative traits, estimate genetic effects and variances of major genes and polygenes, and the recombination value while there is linkage between two major genes. Finally, an example was used to illuminate the above procedure.

Genetic Linkage↗
PubMed2001

Effects of inherited thrombophilic mutations in an adolescent with antiphospholipid syndrome and systemic lupus erythematosus.

Thrombophilia can result from either inherited or acquired conditions. We describe a teenager who developed extensive thrombosis requiring aggressive and prolonged anticoagulation. Laboratory evaluation revealed an acquired lupus anticoagulant, consistent with the antiphospholipid antibody syndrome (APS). DNA analysis revealed inherited thrombophilic mutations in the factor V and methylene tetrahydrofolate reductase genes. We believe that the combination of inherited and acquired hypercoagulable conditions affected her therapeutic response to anticoagulant therapy. Inherited thrombophilic DNA mutations may contribute to the hypercoagulability observed in patients with acquired thrombophilic conditions such as APS and systemic lupus erythematosus.

Adolescent↗