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PubMed1999

[New models of inheritance of complex characteristics and their use in segregation analysis of idiopathic scoliosis].

New methods of segregation analysis of alternative traits have been developed. These methods make it possible to take into account the sex and age specificity of the disease manifestation. Hence, they extend the range of genetic hypotheses to be tested and ensure the correct analysis of inheritance of complex pathologies in humans. Segregation analysis of idiopathic scoliosis performed in this study demonstrates the possibilities of the new methods. Based on pedigrees of 93 probands, it has been demonstrated for the first time that the inheritance of severe (degrees II to IV) forms of this disease can be described by a model that assumes a dominant major gene with incomplete, sex- and age-dependent penetrances of all genotypes. According to this model, severe forms of idiopathic scoliosis do not develop if the mutant allele is absent (the penetrance of genotype A1A1 is zero). The probabilities of the disease for subjects with genotypes A1A2 and A2A2 are similar and approximately equal to 0.3 and 0.5 for males and females, respectively. Mild (degree I) forms of idiopathic scoliosis are heterogeneous. A progressive disease may be expected only in the patients that carry the mutant allele.

Adolescent↗
PubMed1999

Women and inherited bleeding disorders: pregnancy and delivery.

The most common inherited bleeding disorders in women are von Willebrand disease (vWD), carriership of hemophilia A and B, and factor XI (FXI) deficiency. Pregnancy and delivery are associated with major concerns and particular risks in women with these disorders. An increased awareness among clinicians of these disorders and their obstetric complications, a multidisciplinary approach to management, close collaboration between obstetricians and hemophilia centers, and the availability of management guidelines are essential to minimize maternal and neonatal complications. The special aspects of obstetric management include prenatal diagnosis, and antenatal, intrapartum, postpartum, and neonatal care. The issue of prenatal diagnosis is primarily considered in carriers of hemophilia because of severity of the disease in their male offspring and knowledge of genetic defects in most of affected families. The uptake of prenatal diagnosis, methods used, and technical aspects of invasive procedures are discussed. Hemostatic response to pregnancy is variable in different types of inherited bleeding disorders. Monitoring of coagulation status and appropriate prophylaxis, when indicated, is essential for safe pregnancy and delivery. Invasive intrapartum monitoring techniques and instrumental deliveries should be avoided. Delivery should be achieved by the least traumatic method to minimize the risk of postpartum hemorrhage and neonatal hemorrhagic complications.

Delivery, Obstetric↗
PubMed1999

Inheritance of polymorphic metabolizing genes on environmental disease and quality of life.

From investigations based on the human genome and the environmental genome programs, genetic basis for individual differences in response to environmental mutagens is being characterized. Inheritance of variant versions of certain polymorphic genes is frequently associated with the development of environmental disease, such as lung cancer from cigarette smoking. Inheritance of these alleles may also affect the quality of life such as longevity. Evidence in support of these possibilities is presented. It is obvious that through the understanding of susceptibility, more precise disease prevention strategies can be implemented which will not only reduce the disease burden but also improve the quality of life.

Environmental Health↗
PubMed1999

[Inheritance of pendulum movements in rats].

Inheritance of predisposition to pendulum movements (PMs) in rats was studied by two methods: segregation analysis of binary traits (on pedigrees recorded in the selection archives for cataleptic strain GC) and the classical Mendelian analysis of hybrids between strains PM+ and PM- selected for pronounced PMs and the absence of PMs, respectively. Both methods yields the same result: it was found that predisposition to PMs exhibited a monogenic dominant inheritance with incomplete penetrance.

Animals↗
PubMed1999

Molecular diagnosis of inherited bleeding disorders and thrombophilia.

Molecular genetic characterization of the hemostatic system began more than 15 years ago, and, as a result, our knowledge of the genetic pathology of inherited bleeding disorders is well advanced. However, molecular testing for hemophilia and von Willebrand disease (vWD) has been impeded by the large size and complex genomic organization of the genes involved, and by the heterogeneity of the mutations underlying these disorders. Such limitations have significantly reduced the ability to provide diagnostic testing for these conditions through direct mutation detection. Many diagnostic laboratories continue to utilize linkage analysis with highly informative intragenic polymorphisms for the investigation of hemophilia. The one important exception to this trend has been the factor VIII inversion mutation, which provides a definitive test for the mutant allele in approximately 45% of severe hemophilia A patients. In contrast to patients with bleeding disorders, characterization of the factor V Leiden and prothrombin 20,210 variants has dramatically improved the diagnostic yield for patients with inherited thrombophilia. One of these two genotypes is now found in greater than 60% of patients with a clinical history of familial thrombophilia. Finally, recent studies indicate that molecular genetic analysis is beginning to permit preliminary progress in the identification of arterial thrombotic risk. Further advances in characterizing the multigenic basis of thrombotic disease and the application of new technologies to aid in the assessment of genetic variability predict an increasingly important role for molecular diagnostic approaches to the evaluation of disorders of hemostasis.

Cytogenetics↗
PubMed2000

[Transposition and inheritance of Bordetella Tn-element in Escherichia coli K12].

B. pertussis genetically mobile element TnBp3 integrates the plasmid in E. coli chromosome. During culturing under nonselective conditions the majority of cells of some E. coli strains lose the kanamycin resistance marker, which indicates the instability of TnBp3 inheriting. The stability of inheriting the integrated structure is higher in E. coli cells with recB-21 recC-12 sbcB-2 mutations. The role of RecBC recombination system in extrusion of TnBp3 is discussed.

Anti-Bacterial Agents↗
PubMed2000

[Inherited thrombophilia and pregnancy].

Inherited thrombophilia include deficiences of antithrombin III, protein C and protein S, and the factor V Leiden mutation, the prothrombin gene variant, and homozygosity for the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR). The incidence of thromboembolism events during pregnancy and postpartum period among women with thrombophilia is not well known and depends on the prethrombotic state resulting from the interaction of the underlying thrombophilic defect(s), history of congenital thrombophilia, and additional risk factors. In that way, many patients with congenital thrombophilia will require antenatal thromboprophylaxis, the timing of which will depend on the patient's history and thrombophilic disorders. Low molecular weight heparin appeared to be a safe alternative to unfractionated heparin for both the fetus and the mother during the pregnancy. Case-control studies have recently demonstrated that serious obstetrical complications i. e severe preeclampsia, abruptio placentae, intrauterine growth restriction, and stillbirth were frequently associated with inherited thrombophilia. Controlled trials are now urgently needed to determine the possible potential benefits of anticoagulant therapy in pregnancy outcome. Finally, there is no evidence to support routine screening for congenital thrombophilia during pregnancy.

Antithrombin III Deficiency↗
PubMedDate not supplied

[The absence of uniparental X-chromosome inheritance in spontaneous abortuses with a 46,XX karyotype].

The problem of the presence of imprinted regions on the X-chromosome and the possible influence of the imprinted expression of X-linked genes on the embryonic development in man remains largely unsolved. A comparison of the uniparental inheritance of chromosomes or of their regions having different phenotypic manifestations provides an instrument with which to study the phenomenon of genomic imprinting at the chromosomal level. Assuming that the imprinted inactivation of X-chromosomes is functionally significant for embryonic development, we have studied several polymorphic micro- and minisatellite loci of X-chromosomes in 52 fetuses with karyotype 46,XX, which were spontaneously aborted during the first trimester of pregnancy. The purpose was to determine the contribution of uniparental disomy for the X-chromosome in any disturbances of the embryonic development. We found that inheritance of X-chromosomes was biparental in the studied embryos, suggesting the absence of any significant contribution of the parental origin of the X-chromosome to embryonic mortality occurring between 4 and 12 weeks of development.

Abortion, Spontaneous↗
PubMed2000

[Information and retrieval diagnostic system for inherited metabolic diseases].

The paper analyzes a procedure for construction and practical use of an information and retrieval diagnostic system (IRDS) for inherited metabolic diseases (IMD) in the context of an automatic working place for consulting genetics. An IRDS structure for IMD is proposed, which involves the following functional elements: 1) a genetic register; 2) an inherited metabolic disease database (IMDD); 3) a special module for searching for the probable range of diagnoses; 4) an archive; 5) a special model for statistical analysis of the clinical polymorphism of IMD. The full insight into each nosological entity (n = 316) as part of IMD IRDS is gained by using a set of catalogues, such as a catalogue IMD classes (n = 22), that of IMD clinical symptoms and signs (n = 1215); that of IMD biochemical markers (n = 934); a list of all symptoms and signs for each nosological entity; that of major diagnostic signs for each nosological entity. The clinical picture is described within the framework of the unified structure that includes the following set of items: the textual description of the clinical picture of a disease in terms of major diagnostic signs, etiology, genetics, pathogenesis, a biochemical phenotype, paraclinical studies, differential diagnosis, treatment, and prevention. The system is provided with a simple and user-friendly interface that allows a user to have a prompt look at the data pertaining to each nosological entity, to find required references by employing multiple keys of data search, sort, and printing.

Diagnosis, Computer-Assisted↗
PubMed2000

[Stable inheritance of hpt gene in transgenic rice plants mediated by biolistic bombardment].

Japonica rice cv 77170 was transformed with pBI222 carrying hygromycin phosphotransferase gene (hpt) by using biolistic bombardment and fertile transgenic rice plants were obtained. In T1 and most T2 generation the performance of hygromycin resistance was normal. Only in T2 progeny of SG-15 some lines showed decreased resistance. Mendelian inheritance of hygromycin resistance was showed as single dominant locus and proved by Southern blotting analysis in T1 and T2 generation of all transgenic plants. Multiple copies of hpt integrated into rice genome. These copies linked closely and inherited stablly. Msp I digested Southern blotting showed that methylation of hpt existed commonly in transgenic plants and their progeny, therefore uncomplete silencing of hpt in some T2 progeny of SG-15 was not associated with hpt methylation probably.

Biolistics↗
PubMed2000

Accuracy and implications of a reported family history of glaucoma: experience from the Glaucoma Inheritance Study in Tasmania.

OBJECTIVES: To ascertain the prevalence of previously undiagnosed primary open-angle glaucoma (POAG) within 5 large POAG pedigrees and to evaluate the reliability of a reported family history of glaucoma within these pedigrees. METHODS: The Glaucoma Inheritance Study in Tasmania (GIST) identified several large adult POAG pedigrees. Intraocular pressure (IOP), optic disc stereophotography, and automated perimetry were performed on all adult pedigree members. Participants were classified as normal (IOP <22 mm Hg and normal optic disc and field); glaucoma suspect (normal field, but an IOP >/=22 mm Hg and/or suspicious optic disc); or POAG (field defect and glaucomatous optic disc). Some individuals with POAG had been previously diagnosed by their local ophthalmologist; others were diagnosed as a result of the GIST project. Family members with a prior diagnosis of POAG were asked to report if they were aware of any relatives with POAG. This reported family history was then directly compared with the actual pedigree (before the diagnosis of new cases) to calculate agreement. MAIN OUTCOME MEASURE: The rate of glaucoma in pedigrees and percentage of previously diagnosed glaucoma cases who were aware of the positive family history of POAG. RESULTS: Four hundred forty-two subjects (mean age, 54 years [range, 13-97 years]) from 5 pedigrees were examined: 316 subjects (71%) were normal, 47 (11%) were previously diagnosed with POAG, and 8 (2%) were previously diagnosed glaucoma suspects; 30 cases (7%) of POAG and 41 suspects (9%) were newly diagnosed as a direct result of the GIST examination. Of the 47 previously diagnosed POAG cases, 41 were questioned about their prior knowledge of any family history and 11 (27%) were unaware of their family history of POAG. CONCLUSIONS: Examination of all adult subjects from POAG families yields new cases. Even in large POAG pedigrees, 27% of previously diagnosed POAG patients were unaware of their positive family history. These findings suggest that a higher percentage of adult POAG may be inherited than hitherto reported. Arch Ophthalmol. 2000;118:900-904

Adolescent↗
PubMed2000

[A study on the inheritance of dried tofu output of soybean].

The P1, P2, F1, F2 and F2:3 in plant generation of three crosses of Liuhexiaoyeqing x Xinyixiaohedou, Shangraoganbusi x Huaiyinqiuhedou and Liuhexiaoyeqing x Nannong 73-935 were used to study the inheritance of dried tofu output. The results of the joint analyses of multiple plant generations showed a consistant one major gene plus polygene mixed inheritance model. The heritability values for dried tofu output were as high as 87.84%-99.98%. In plant generation F2:3 of these crosses, the heritabilities of major gene were 51.80%-61.85%, and those of polygene were 36.12%-48.03%. Therefore, both major gene and polygene effects were important and should be utilized in breeding program.

Glycine max↗
PubMed2000

A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient.

A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient: We describe a patient suffering from encephalomyopathy with overlapping symptoms, including MELAS and Kearn-Sayre syndrome features. Mutations in tRNA LEU (UUR) were not found in mtDNA of blood cells, suggesting a different genetic defect. Cytogenetic studies revealed a paternal inherited pericentric inversion of chromosome 10 (p13;q22) pat. Although the presence of the same inversion in the father and in the apparently asymptomatic sister does rather suggest that the concurrence of the mitochondrial disease in the patient was due to chance, some alternative explanations to associate both events might be proposed.

Adult↗
PubMed2000

Molecular genetics of inherited peripheral neuropathies: who are the actors?

Charcot-Marie-Tooth disease, the most common variant of the inherited peripheral neuropathies, has a prevalence of 1/2500. Clinical, electrophysiological, neuropathological and molecular genetic studies have demonstrated extensive heterogeneity. Currently, 30 genetic loci are known for distinct CMT types and related inherited peripheral neuropathies, while many other types have been excluded for linkage to these loci. Recent molecular genetic studies have demonstrated the involvement of 8 genes that encode proteins with very diverse functions. These include a structural protein confined to the compact myelin, a cytoskeletal protein, an adhesion molecule, a gap-junction protein, a transcription factor, a receptor for a neurotrophic factor, a phosphatase and a protein involved in signal transduction and cell cycle regulation.

Animals↗
PubMed2000

[Asymptomatic familial basal ganglia calcification with autosomal dominant inheritance: a family report].

We report here a pedigree of basal ganglia calcification with autosomal dominant inheritance. Following a traffic accident, the proband, a seven-year-old boy, was incidentally noted by cranial computed tomography to have calcification of the bilateral basal ganglia. Six affected members spanning three generations, aged from 5 to 57 years, also had calcification in various degree. None of them had clinical symptoms. There were neither abnormal data nor any characteristic physical symptoms associated with parathyroid disorders. There was no consanguinity. Both sexes were affected and the sex ratio was 0.5. Male-to-male transmission was documented. These findings suggested an autosomal dominant trait. The clinico-radiological findings in our pedigree were different from those of the previously reported cases of familial basal ganglia calcification, that infants were affected and that clinical symptoms were absent in elderly patients. These facts suggest our pedigree is a new type of familial basal ganglia calcification with autosomal dominant inheritance.

Basal Ganglia Diseases↗
PubMed1998

Predisposition testing for inherited breast cancer.

Predisposition testing (i.e., genetic testing that provides information about a person's susceptibility to disease) is now available for several inherited forms of cancer. Individuals who are found to have an altered gene (e.g., a germ-line mutation in a cancer susceptibility gene) have a higher risk of developing cancer than those who do not carry an altered gene. Therefore, predisposition testing can be a powerful clinical tool for assessing a person's risk for developing cancer. All health care providers, particularly cancer care providers, should be knowledgeable about cancer predisposition testing options. This article provides an overview of predisposition testing for inherited breast cancer, including general facts about testing, potential risks and benefits, specific genetic counseling issues, and molecular details of known breast cancer susceptibility genes.

Adult↗
PubMed2001

Pseudohyperkalaemia and pseudomacrocytosis caused by inherited red-cell disorders of the 'hereditary stomatocytosis' group.

Unusual dominantly inherited conditions of the red cell, collected under the generic title 'hereditary stomatocytosis and allied disorders', exist, in which the red cell 'leaks' the univalent cations sodium (Na+) and potassium (K+). In some kindreds with these disorders, bizarre temperature effects can occur that have profound effects on the way in which the cells behave when removed from the body and cooled to either room or refrigerator temperatures. In some types, the cells lose K+ at room temperature, giving rise to pseudohyperkalaemia; in others, this occurs in concert with swelling of the red cell and pseudomacrocytosis. In some of these conditions, a red-cell abnormality is clearly demonstrated by the presence of haemolytic anaemia; however, routine haematology can be virtually normal in the milder versions. All are inherited as dominants, although new mutations can be seen.

Anemia↗
PubMed2001

Maternal inheritance of plastids in Encephalartos Lehm. (Zamiaceae, Cycadales).

The mode of inheritance of chloroplast DNA has been determined in Encephalartos by employing a restriction fragment length polymorphism analysis of chloroplast DNA. Artificial F1 hybrids were produced between a female specimen of E. natalensis and a male specimen of E. woodii. The hybridization patterns of all hybrids correspond, in all cases, with that of E. natalensis, and are different from that of E. woodii, thus indicating the maternal inheritance of cpDNA in cycads.

Chloroplasts↗

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