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At least 55 records · Page 3Linked to original sources
PubMed1990

Inheritance of heart structure and physical exercise capacity: a study of left ventricular structure and exercise capacity in 7-year-old twins.

The maximal aerobic power of endurance athletes is high and their heart is characterized by a larger left ventricular internal dimension than in non-athletes, and a proportional increase of wall thickness; these traits may be inherited and/or the consequence of intense physical training. To assess the influence of inheritance on physical exercise capacity and on echocardiographically determined cardiac structure, and to limit the effect of environmental factors as much as possible, we studied 15 monozygotic and 19 dizygotic 6- to 8-year-old twin pairs. Exercise capacity was expressed as the times at which the heart rates of, respectively, 150 and 170 beats min-1 were reached during a progressive exercise test on the treadmill. For these exercise times the within-pair variance was significantly larger in dizygotic compared with monozygotic twins. Therefore significant genetic variance was inferred, both when the exercise times were expressed as absolute values and after adjustment for body weight and gender. As for cardiac structure at rest, the results did not suggest a significant influence of genetic endowment on left ventricular internal diameter or on wall thickness; genetic variance was significant, however, for calculated left ventricular mass (P less than 0.05) and left ventricular mass adjusted for body weight and gender. The results are compatible with the notion that the high aerobic power of endurance athletes is at least partly inherited. Left ventricular internal dimension and wall thickness, which distinguish an athlete's heart at rest from the heart of a non-athlete, do not show a significant genetic component, suggesting that the qualities characteristic of an athlete's heart, at least as assessed at rest, are not inherited. The inheritance of aerobic power may be due to inheritance of non-cardiac factors or to cardiac features which are only expressed during exercise.

Blood Pressure↗
PubMedDate not supplied

Inheritance of low density lipoprotein subclass patterns in familial combined hyperlipidemia.

The inheritance of low density lipoprotein (LDL) subclass patterns was investigated in 234 members of seven large kindreds with familial combined hyperlipidemia (FCHL), a disorder characterized by elevated LDL cholesterol and/or triglyceride and increased coronary disease risk in families. Analysis of LDL subclasses by nondenaturing gradient gel electrophoresis showed a predominance of large, buoyant LDL particles (pattern A) in 71% of the family members and a predominance of small, dense LDL particles (pattern B) in 29% of family members. Based on complex segregation analysis, pattern B appeared to be inherited as an autosomal trait with either a dominant or an additive mode of inheritance and a small, but significant, multifactorial inheritance component. The proposed allele for pattern B was common (frequency = 0.3), and reduced penetrance was observed among men under age 20 and among women under age 50. These results in these FCHL families are consistent with those from a previously reported population-based sample of families, in which pattern B showed an apparent dominant mode of inheritance. In that study, reduced penetrance was observed for men under age 20 and for premenopausal women, but a somewhat lower allele frequency was found for pattern B (0.25). In the FCHL family members, LDL subclass pattern B was associated with significantly increased plasma levels of apolipoprotein B and triglyceride and decreased high density lipoprotein cholesterol. In comparison with a group of controls, the FCHL family members with pattern A had similar mean triglyceride levels, but higher mean apolipoprotein B. Thus, in families with FCHL, a predominance of small, dense LDL particles appears to be inherited as a common, single-gene trait, which is closely associated with the higher plasma triglyceride levels found in these families. The increased plasma apolipoprotein B levels found in FCHL cannot, however, be accounted for by this proposed locus.

Adult↗
PubMed1991

[Subclinical eye movements as an indicator for inheritance of congenital nystagmus and central nervous system disease].

Clinically unaffected relatives of families with a history of either inherited congenital nystagmus or inherited neurogenic muscular and cerebellar atrophy underwent electrooculographic examination under three distinct test conditions. We found an increase in the number of square wave jerks, a higher than normal intensity score (defined in terms of frequency X amplitude of an involuntary saccade, unit: o/s) and nystagmus as compared with 110 normal individuals ranging in age from 21 to 89 years. These findings suggest a possible autosomal dominant mode of inheritance in the case study of congenital nystagmus presented. The results show abnormal eye movements in some family members from a family with inherited cerebellar degeneration with acquired nystagmus, suggesting that these family members are affected with the disorder. This study documents the rarely described observation of a connection between inherited cerebellar degeneration with inherited distal neurogenic muscular atrophy.

Adult↗
PubMed1988

[The inheritance of hypodontia in families--the segregational analysis].

The aim of this study was to establish the mode of inheritance of hypodontia based on family data, and by means of segregational analysis to test whether this anomaly follows the expected ratio of segregation for the expected mode of inheritance. The research has been performed by analysing pedigrees of 35 families with hypodontia. Genealogical analyses suggest that hypodontia follows an autosomal dominant (AD) mode of inheritance in 21 families. The sample has been obtained by single incomplete ascertainment. The following methods have been applied for segregational analysis: Weinberger's proband method, Davie's method, Fisher's method, Robert's method, and finally Penrose's of a "relative frequency" method. Weinberger's method showed the value of 0.27 (27%) of the segregation of genes for hypodontia of the chosen sample and in case of Davie's method 0.28 (28.57%). Fisher's "sib" method gave the same results as Davie's method (28.57%). Roberts's formula showed that the value of X2 was 1.76, what means that there is no significant deviation from the expected 1:1 ratio. The results obtained are in favor of the autosomal dominant mode of inheritance. Penrose's method of a "relative frequency", suitable for differencing monogenic from polygenic inheritance, also showed autosomal dominant mode of inheritance of hypodontia in the analyzed sample.

Anodontia↗
PubMed1992

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome.

Eleven patients with Angelman syndrome (AS) and their parents from 5 families have been studied with high resolution chromosome analysis and molecular probes from region 15q11-13 in an attempt to elucidate the mode of inheritance in familial AS. No deletions were detected. All families were informative with a combination of different short arm cytogenetic markers. All sets of sibs inherited the same maternal chromosome 15, but in 3 families sibs inherited different paternal 15s. Analysis of 6 polymorphic DNA markers supported the conclusion that AS sibs inherit the same maternal 15, but often different paternal 15s. These data make autosomal recessive inheritance at a 15q11-13 locus very unlikely and support the hypothesis that familial AS is due to maternal transmission of a mutation within 15q11-13.

Angelman Syndrome↗
PubMed1991

Inherited ring chromosomes: an analysis of published cases.

A review of case reports on patients with ring chromosome revealed 30 individuals (plus two fetuses) who inherited the ring from a total of 23 carrier parents (21 mothers and 2 fathers). The proportion of cases with inherited rings, among all patients with a ring, was calculated to be 5.6% as an upper limit. However, because of a propable difference in survival and fertility between individuals with transmitted and do novo rings, and because of the preferential publication of cases involving inherited rings (and thus a publication bias), the proportion of inherited rings should in reality be no more than 1%. Out of 30 transmitted rings, there were 9 where parent and child were both mosaics, suggesting an inherited instability of the chromosome involved leading to de novo re-formation of the ring in the second generation. The relatively mild clinical manifestations of ring chromosomes, in general, was found to be even more striking in familial cases. In half of the offspring the phenotype was very similar to that of the parent. However, in about a third of cases the offspring were more severely (mentally) affected. This fact should be considered in genetic counseling of clinically normal women who carry a ring chromosome.

Female↗
PubMed1985

Will a three-allele model of inheritance explain the HLA data for type 1 (insulin-dependent) diabetes?

The HLA data from nine published studies on Type 1 (insulin-dependent) diabetes were examined to see whether a three-allele model for the inheritance of Type 1 diabetes at the HLA-associated locus could be rejected. None of the data rejected the three-allele model. The data were also examined to see whether they would reject a recessive model. Out of the nine data sets, five rejected a recessive and four did not. The p value for all studies together rejected a recessive. Two of the data sets allowed us to test the hypothesis that multiplex and simplex families would exhibit different modes of inheritance. Multiplex data from both data sets rejected recessive inheritance while the multiplex data from only one data set also rejected three-allele inheritance. The results of assuming a recessive model and analyzing the data from simplex families led to different results from the two data sets. In addition, data from a non-European population were examined and found to reject both recessive and three-allele inheritance for Type 1 diabetes at the HLA-associated locus.

Alleles↗
PubMed1977

[Importance of inheritance in cardiomyopathies (author's transl)].

Inheritance plays an important role in the cardiomyopathies (i.e. dysfunction of the cardiac muscle of unknown origin). This especially has become obvious for the entity asymmetric septal hypertrophy of autosomal dominant inheritance (ASH), a cardiomyopaty with and without obstruction. But this is not the only type of cardiomyopathy of dominant transmittance as was shown by the demonstration of a kindred, in which echocardiographically no hypertrophy of the septum could be found. For it was not possible to find a uniformity for all the affected members of the kindred, for example a congestive course of the disease. Therefore it is suggested to name the disease without any prejudice "cardiomyopathy without asymmetric septal hypertrophy of dominant inheritance" to distinguish it from the "cardiomyopathy with asymetric septal hypertrophy of dominant inheritance". There also may occur a cardiomyopathy of autosomal recessive inheritance. This form could represent a large part of the "sporadic" cardiomyopathies and should challenge to search intensively for enzyme defects as a cause of the disease.

Cardiomyopathies↗
PubMed1988

Inherited factors in thrombosis.

Patients with inherited defects or abnormalities that impair the naturally-occurring anticoagulant and fibrinolytic systems are at risk of developing venous and, more rarely, arterial thromboembolism. The prevalence of inherited thrombophilia in the general population is higher than that of inherited bleeding disorders (ca. 1 in 7500 vs 1 in 20,000). Low levels or dysfunctional forms of antithrombin III, protein C and protein S and abnormal fibrinogens are the most frequent and well-established inherited causes for thrombosis. Less frequent and/or less established causes are low heparin cofactor II and plasminogen and high levels of plasminogen activator inhibitor and histidine-rich glycoprotein. The pathophysiology, genetic and clinical aspects and laboratory diagnosis of inherited thrombotic disorders are reviewed and an approach to prophylaxis and therapy is outlined.

Humans↗
PubMed1991

Inherited bleeding disorders.

Congenital bleeding disorders comprise a heterogeneous group of diseases that reflect abnormalities of blood vessels, coagulation proteins and platelets. Studies of these diseases, many of which are rare and several of which result in a mild bleeding diathesis only, have significantly increased our understanding of normal haemostasis. Two lessons have been learned. First, quantitative abnormalities of coagulation proteins and platelets are an important, but not the only, cause of significant haemorrhage; some cases of inherited bleeding disorders reflect synthesis of a dysfunctional coagulation protein or production of abnormal platelets. Diagnostic tests that reflect qualitative abnormalities are therefore important in the evaluation of selected patients with inherited bleeding disorders. Second, in occasional patients the inherited disorder is complex and reflects combined abnormalities of coagulation proteins alone or in association with platelet disorders. In clinical practice it is useful to distinguish disorders that cause significant clinical bleeding from those that cause few or no symptoms. Examples of the former include severe deficiencies of factors VIII and IX, and the homozygous forms of factor II, V, VII, X, XI, XIII, fibrinogen and von Willebrand factor. Comparable platelet disorders include the inherited thrombocytopenias with platelet counts less than 20 x 10(9) litre-1 and the homozygous forms of Bernard-Soulier syndrome and Glanzmann's thrombasthenia. The most frequently encountered mild haemostatic abnormalities include type I von Willebrand's disease, the platelet storage pool deficiency syndromes and the mild and moderate forms of haemophilia A and B; occasionally heterozygous or homozygous forms of the rarer coagulation disorders, e.g. factor XI deficiency, may present with a mild bleeding diathesis. Finally, some disorders are entirely asymptomatic, e.g. factor XII deficiency and deficiencies of other contact coagulation factors. Management of patients with inherited bleeding disorders should reflect knowledge of the specific disorder to be treated plus careful consideration of the clinical circumstance for which therapy is proposed. In all cases, once a decision to treat has been made, the safest efficacious therapy should be given (for example DDAVP in the treatment of patients with mild haemophilia A or type I von Willebrand's disease). Although blood products are now much safer and the risk of blood transmitted viral infections is low, there still remains a risk that transfusion of any blood product may be associated with serious side-effects. As a result, therapy should be given only after careful consideration of the risk: benefit ratio and not merely to treat an abnormal laboratory result.(ABSTRACT TRUNCATED AT 400 WORDS)

Afibrinogenemia↗
PubMed1981

Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity.

Pseudohypoparathyroidism, type I (PHP-I) is an inherited disorder of primary resistance to multiple hormones that work by stimulating adenylate cyclase. In an attempt to clarify the mode of inheritance of PHP-I, we measured the activity of the N protein, a receptor-cyclase coupling component, in erythrocyte membranes. Erythrocyte N-protein activity was reduced by approximately 50% in erythrocytes of 15 PHP-I patients and was normal in 19 of their clinically normal first degree relatives. Reduced N-protein activity and the PHP-I phenotype in these families exhibited both dominant and recessive patterns of inheritance. This suggests that at least two distinct genetic loci are involved in inheritance of N-protein deficiency. In two additional families, dominant inheritance of the PHP-I phenotype was associated with normal activities of erythrocyte N protein. Thus, it appears that mutation of at least one additional genetic locus, not involving the N protein, can produce PHP-I.

Adenylyl Cyclases↗
PubMed1992

Mendelian inheritance of familial prostate cancer.

Previous studies have demonstrated familial clustering of prostate cancer. To define the nature of this familial aggregation and to assess whether Mendelian inheritance can explain prostate cancer clustering, proportional hazards and segregation analyses were performed on 691 families ascertained through a single prostate cancer proband. The proportional hazards analyses revealed that two factors, early age at onset of disease in the proband and multiple affected family members, were important determinants of risk of prostate cancer in these families. Furthermore, segregation analyses revealed that this clustering can be best explained by autosomal dominant inheritance of a rare (q = 0.0030) high-risk allele leading to an early onset of prostate cancer. The estimated cumulative risk of prostate cancer for carriers revealed that the allele was highly penetrant: by age 85, 88% of carriers compared to only 5% of noncarriers are projected to be affected with prostate cancer. The best fitting autosomal dominant model further suggested that this inherited form of prostate cancer accounts for a significant proportion of early onset disease but overall is responsible for a small proportion of prostate cancer occurrence (9% by age 85). These data provide evidence that prostate cancer is inherited in Mendelian fashion in a subset of families and provide a foundation for gene mapping studies of heritable prostate cancer. Characterization of genes involved in inherited prostate cancer could provide important insight into the development of this disease in general.

Adult↗
PubMed1991

Interspecific backcross mice show sex-specific differences in allelic inheritance.

Transmission distortion is identified as a difference in transmission frequency of two alleles from the normal 1:1 Mendelian segregation in diploid organisms. Transmission distortion can extend over part or all of a chromosome. The recent development of interspecific mouse backcrosses has provided a powerful method for multilocus mapping of entire chromosomes in a single cross, and consequently for identifying distortions in allelic inheritance. We used an interspecific backcross of [(C57BL/6J x Mus spretus)F1 x C57BL/6J] mice to map molecular loci to mouse chromosome 2 and had previously found that the distal region of the chromosome showed distortions in allelic inheritance. We now report the mapping of five loci (Actc-1, D2Hgu1, His-1, Hox-4.1 and Neb) to chromosome 2, which, in addition to the Abl, Ada, B2m, Bmp-2a, Hc, Emv-15, Fshb, Hck-1, Pax-1, Pck-1, Spna-2 and Vim loci previously mapped in our interspecific backcross, serve as markers to measure allelic inheritance along approximately 75% of mouse chromosome 2. Statistical analyses are used to identify and delimit chromosomal regions showing transmission distortion and to determine whether there are sex-specific differences in allelic inheritance. These studies provide evidence for sex-specific differences in allelic inheritance for chromosome 2 and suggest biological explanations for this form of transmission distortion.

Alleles↗
PubMed1992

Intracellular symbionts and the evolution of uniparental cytoplasmic inheritance.

Uniparental inheritance of cytoplasmic elements is widespread among eukaryotic organisms and is achieved by a diverse range of mechanisms. This paper shows that the cytoplasmic genetic system would be expected to evolve towards uniparental inheritance, given the existence of deleterious symbionts capable of invading the host cytoplasm together with nuclear genes that lead to the elimination of cytoplasmic elements from one of the gamete types. The reason for this is that, under biparental inheritance, foreign symbionts with strong deleterious effects are able to spread through host populations. A nuclear modifier gene which leads to the loss of cytoplasmic elements from one gamete type gains a net advantage as a symbiont spreads, because the modifier sometimes gives rise to a symbiont-free zygote. Insofar as small gametes reduce the rate of symbiont transmission to the zygote, modifier genes causing small gamete size would tend to accumulate, so that cytoplasmic inheritance would become associated with maternal rather than paternal gametes. Once uniparental inheritance predominates in the host population, the population is protected from invasions by a large class of harmful symbionts, but at the same time those symbionts that benefit their hosts are still able to increase in frequency.

Animals↗
PubMed1983

Investigation of the mode of inheritance of the HLA associated diseases by the method of antigen genotype frequencies among diseased individuals.

Statistical features of the method of antigen genotype frequencies among the diseased, for single and multiple disease associations at a locus, will be presented. A methodology to determine when a true intermediate mode of inheritance can be distinguished from strict recessive or additive inheritance will be developed. The effect of sporadics and ascertainment bias on the observed antigen genotype frequencies will be investigated. Data on ankylosing spondylitis, multiple sclerosis and dermatitis herpetiformis are very close to expectations for an additive (or dominant) mode of inheritance for the HLA-linked disease-predisposing gene, and data on hemochromatosis, insulin dependent diabetes mellitus and celiac disease are close to recessive expectations. If an intermediate model does apply in any of these cases, it must be an intermediate model that is fairly close to a strict recessive or dominant model; as appropriate. DR data for insulin dependent diabetes mellitus (IDDM) strongly indicate that there are two separate "disease" alleles, which exhibit negative complementation, predisposing individuals to IDDM, where the mode of inheritance of the "disease" alleles considered separately is close to recessive. In general, this method cannot rule out the existence of sporadics or a second disease-predisposing gene, when the penetrance values over the two disease-predisposing genes are strictly additive, for diseases showing agreement with additive (or dominant) modes of inheritance.

Arthritis, Juvenile↗
PubMed1984

Inheritance of idiopathic torsion dystonia among Jews.

Idiopathic torsion dystonia (ITD) has long been considered to be genetically determined, but the pattern of inheritance has been unclear. It has been suggested that inheritance may differ in Jews and non-Jews. In the present study, data gathered in a nationwide survey of ITD in Israel were analysed. Between 1969 and 1980, 47 patients were collected, of whom 40 were of European origin. In these European Jews, the ITD frequency was about 1:23 000 live births, which was five-fold greater than in Jews of Afro-Asian origin. Assuming that all cases fit the same genetic model, an X linked or a simple autosomal recessive model of inheritance did not agree well with our data. An autosomal dominant model with low penetrance could have accounted for our observations and would yield an ITD gene frequency in European Jews of 3 to 4:100 000. In view of the increased ages of their fathers, the isolated cases may have included some new mutations. Multifactorial inheritance was also possible. However, it may be inappropriate to assume that all cases have the same genetic basis, or even that all are inherited.

Dystonia Musculorum Deformans↗
PubMed2025

A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa.

Dystrophic epidermolysis bullosa is a rare subtype of inherited epidermolysis bullosa, caused by variants in the collagen type VII alpha 1 chain (COL7A1) gene (MIM120120). Both autosomal dominant and recessive inheritance has been reported with variable phenotype. We investigated a Pakistani family with dystrophic epidermolysis bullosa via exome sequencing and identified a pathogenic nonsense variant in COL7A1 NM_000094 c.1573 C > T:p.(Arg525*). The inheritance pattern observed was consistent with a semi-dominant model, where heterozygous parents exhibited a mild phenotype, and homozygous children were more severely affected. For dystrophic epidermolysis bullosa, loss-of-function variants are typically associated with the autosomal recessive form, while missense variants are linked to the autosomal dominant form. A review of the literature suggests a semi-dominance pattern for some missense variants, particularly glycine substitutions, but this concept had not been formally recognized. This study highlights the importance of considering semi-dominant inheritance models for dystrophic epidermolysis bullosa and other Mendelian diseases with an autosomal recessive mode of inheritance, as it can significantly impact diagnosis and genetic counseling.

Humans↗
PubMed1975

Investigation of the prevalence and inheritance of bronchial asthma in San Antonio de los Baños, Cuba.

A survey of bronchial asthma prevalence and inheritance patterns was carried out in the municipality of San Antonio de los Banõs, La Habana, Cuba, employing as a sample 3,295 of the area's inhabitants. These persons, selected by stratified, non-restricted sampling techniques, represented 11.02 per cent of the total population. The asthma prevalence found in this sample, which was considered representative of the local population, was 9.74 percent. No significant variations were noted in male and female prevalence rates. The occurrence of bronchial asthma is strongly influenced by inheritance. Our survey supported this view, and also showed that the age of asthma onset is influenced by whether or not the subject's family has a positive history of allergy or not. However, patients with a positive history on one side of their family had an age of onset that was not significantly different from patients with a positive history on both sides (p less than 0.35). Overall, the results tend to confirm that the inheritance of bronchial asthma is autosomal and does not conform to simple dominant or recessive inheritance patterns. Rather, asthma inheritance appears multifactorial, perhaps involving varying degrees of expression, indicating that more is involved than absence or deficiency of a single enzyme.

Adolescent↗