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PubMed1998

Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes.

Despite significant advances in understanding the genetic background in Hirschsprung's disease (HD), the majority of cases are believed to be multigenic and multifactorial. Conditions associated with an increased risk of HD suggest some common inherited factor and include Down's syndrome, Waardenburg syndrome (WS), dominant sensorineural deafness, neurofibromatosis, neuroblastoma, phaechromocytoma, the MEN type 2B syndrome, and other abnormalities. The reported incidence of Down's syndrome in HD is approximately 2%, but the range varies from 2% to 15%. WS, on the other hand, is one of a number of uncommon human conditions in which pigmentary disturbances are associated with sensorineural deafness. HD mutations have been mapped to a number of genes, i.e., RET proto-oncogene, at 10q11.2; the recessive EDNRB gene, located at 13q22; its ligand endothelin 3 (EDN3); and the glial cell line-derived neurotrophic factor (GDNF) in humans. Mutations of known genes appear to account for only a relatively small number of HD cases (20% in the case of RET). GDNF may modulate the disease phenotype by interacting with other susceptibility loci (e.g., RET). The genetic aspects of HD occurring in association with trisomy 21 and WS are reviewed. Clinical presentation, diagnosis, treatment and long-term outcome in this patient group are evaluated. Additional data are presented on 12 children with Down's syndrome out of 408 surgically treated HD patients. The role of associated anomalies is evaluated, and an increased susceptibility to severe enterocolitis associated with a high mortality rate is reported. Surgical correction can be achieved, but patients may require some form of ongoing help to facilitate acceptable bowel function. The decision as to the nature and timing of the surgical correction must be individualized.

Down Syndrome↗

PubMed1997

Genes and inheritance.

The information gained from the Human Genome Project and related genetic research will undoubtedly create significant changes in health care practice. It is becoming increasing clear that nurses in all areas of clinical practice will require a fundamental understanding of basic genetics. This self-learning module provides the oncology nurse with an overview of basic genetic concepts including inheritance patterns of single gene conditions, pedigree construction, chromosome aberrations, and the multifactorial basis underlying many common diseases of adulthood. Normal gene structure and function will be introduced and the biochemistry of genetic errors will be described.

Chromosome Aberrations↗

PubMed2001

Genes and inheritance.

The information gained from the Human Genome Project and related genetic research will undoubtedly create significant changes in healthcare practice. It is becoming increasingly clear that nurses in all areas of clinical practice will require a fundamental understanding of basic genetics. This article provides the oncology nurse with an overview of basic genetic concepts, including inheritance patterns of single gene conditions, pedigree construction, chromosome aberrations, and the multifactorial basis underlying the common diseases of adulthood. Normal gene structure and function are introduced and the biochemistry of genetic errors is described.

Chromosome Aberrations↗

PubMed1985

Pulmonary hydrogen and methane excretion following ingestion of an unabsorbable carbohydrate: a study of twins.

Pulmonary excretion of hydrogen and methane after administration of an unabsorbable disaccharide (lactulose) was determined in 228 adult Hungarian twins, 60 monozygous (MZ) and 54 dizygous (DZ) pairs. More than 98% of the subjects (224 of 228) excreted large amounts of hydrogen between 90 and 180 min after lactulose administration. Methane excretion in the fasting state was observed in 124 of 228 of the probands (54.4%), and 68 of 228 (29.8%) produced additional methane in response to lactulose ingestion. In contrast to hydrogen production, both methane excretion and production were significantly more frequent in females than in males. In the total group, and more distinctly in females, the correlation between peak hydrogen and methane concentrations was negative. Twin concordance of fasting methane excretion and lactulose-induced methane production was near 70% in both MZ and DZ pairs. Heritability estimates of methane excretion and production based on intrapair correlation and variance were smaller than unity, and intrapair correlation coefficients were larger in twin pairs living apart than in those living in the same household. Methane excretion is comparatively frequent in the Hungarian population, and a substantial proportion of fasting methane excreters (55%) produce additional methane from lactulose. The sex difference of methane excretion appears to be characteristic of European populations. The twin data disprove regular Mendelian inheritance of methane production and are suggestive of genetic effects in a multifactorial system.

Adult↗

PubMedDate not supplied

Defective vision among Kuwaiti students.

A study, which was intended to find out the main causes of defective vision among Kuwaiti students, yielded the following results: The percentage of defective vision among 139,769 Kuwaiti students is 0.099%. Hereditary and genetic causes are responsible for 75.5% of the cases. Recessive inheritance account for 36.2% Autosomal dominant account for 34.3% Sex linked 9.5% Multifactorial 20.0% Forty-nine cases (of the total number of hereditary and genetic cases), i.e., 46.7% are the product of consanguineous marriages. Inflammatory causes account for 20.9%. The most common cause is neglected cases of muco-purulent and purulent conjunctivitis, becoming corneal ulcers and ensuing complications. This accounts for 62.1% of the total number of inflammatory causes. Traumatic, metabolic, and neoplastic causes account for 3.6%. Comparative data between England and Wales, Australia, Cyprus and Lebanon together with recommendations for improvement are discussed.

Adolescent↗

PubMed1988

The role of genetic factors in bladder cancer.

The etiology of bladder cancer with regard to environmental factors is well known, but little attention has been focused on the role of genetic factors. The international variation in bladder cancer rates leaves open the question of whether this can be accounted for solely as the result of the differential distribution of environmental factors. In this review, the diverse literature on the potential role of genetic factors in bladder cancer is summarized in four categories: 1) familial aggregation, 2) genetic polymorphisms, 3) the N-acetyltransferase phenotype, and 4) activated oncogenes and chromosomal changes. The role of genetic factors has not been conclusively ascertained, but it appears that two different patterns of genetic involvement can be identified: a Mendelian pattern of autosomal dominant inheritance that accounts for a very small number of cases, and a multifactorial, probably polygenic, pattern involving genetic and environmental interaction. More research is needed to corroborate these findings and assess their significance.

Acetyltransferases↗

PubMed1993

Nonsyndromic cleft lip with or without cleft palate in west Bengal, India: evidence for an autosomal major locus.

Ninety extended families having one or more individuals affected with nonsyndromic cleft lip (CL) with or without cleft palate (CL/P) were ascertained in rural West Bengal, India. These families included 138 affected people, 64% of whom had CL alone and 66% of whom were male. Multiple-affected-member ("multiplex") pedigrees were less common than single-affected-member ("simplex") pedigrees, composing 34% of all extended pedigrees. There was no difference between multiplex and simplex pedigrees in the frequency of affected persons with CL alone, but multiplex pedigrees had a lower frequency of affected males (58%) than did simplex pedigrees (76%; P = .02). Complex segregation analysis using the POINTER computer program rejected both the hypothesis of no familial transmission (P < .0001) and the hypothesis that familiarity could be explained solely by a multifactorial/threshold model (P < .05). The hypothesis of major-locus inheritance alone could not be rejected. Among major-locus models examined, strictly recessive inheritance was rejected (P < .0001), but codominant and dominant models were not. Neither the addition of a multifactorial component nor the addition of a proportion of sporadic cases to the major-locus model improved the fit of the data. In conclusion, the results of complex segregation analysis were consistent with a dominant or codominant major-locus mode of inheritance of CL/P in these families.

Adult↗

PubMed1995

Familial subarachnoid hemorrhage: distinctive features and patterns of inheritance.

To delineate the distinctive features of familial subarachnoid hemorrhage, we compared gender and age at the time of subarachnoid hemorrhage, as well as site and number of aneurysms, in patients with familial subarachnoid hemorrhage (at least 1 first-degree relative with subarachnoid hemorrhage) and patients with sporadic subarachnoid hemorrhage (no subarachnoid hemorrhage in first- or second-degree relatives), in a prospective, hospital-based series of patients. In addition we studied the pattern of inheritance in 17 families with familial subarachnoid hemorrhage. Mean age at the time of hemorrhage in patients with the familial form was 6.8 years lower than that in those with the sporadic form, and middle cerebral artery aneurysms occurred more often in patients with familial disease. Sex distribution and number of aneurysms were similar in the two groups. Inheritance was compatible with autosomal dominant transmission in some families, and with autosomal recessive or multifactorial transmission in others. In our 5 families as well as in all 18 previously reported families with two affected generations, the age at the time of subarachnoid hemorrhage was invariably lower in later generations, which is suggestive of anticipation. We conclude that familial subarachnoid hemorrhage is a separate entity with occurrence at a young age, predilection for aneurysms of the middle cerebral artery, and variable modes of inheritance, including autosomal dominant inheritance with possible anticipation.

Adult↗

PubMedDate not supplied

Peptic ulcer inheritance in patients with elevated serum pepsinogen group A levels and without infection of Helicobacter pylori.

BACKGROUND: Peptic ulcer has multifactorial aetiology, including genetic factors. We have identified a family with pepsinogen Group A levels higher than normal, with a high prevalence of ulcer disease and a low prevalence of Helicobacter pylori infection. AIMS: Performing linkage analysis in the identified family PATIENTS AND METHODS: We examined the segregation of pepsinogens with microsatellite dinucleotide repeat DNA markers along chromosome 11 (D11S480, PYGM) for pepsinogen Group A and along chromosome 6 [D6S105, D6S 1610, TRMI) for pepsinogen Group C. RESULTS: In markers examined along chromosome 11, linkage analysis provided no evidence for significant causal mutation but, controlling for some risk factors we observed that the probability of falling ill, increases. The linkage analysis along chromosome 6 for pepsinogen Group C did not show a uniform genetic profile. CONCLUSIONS: This study evaluates the hypothesis of peptic ulcer inheritance at least in a small group of patients without the common risk factors.

Antibodies, Bacterial↗

PubMed1975

Genetic aspects of orthopedic conditions.

Genetic conditions seen by orthopedists may be divided into Mendelian disorders, chromosome abnormalities and multifactorial conditions. Mendelian disorders involve the abnormality of a single gene and obey the rules of Mendelian inheritance. Chromosome abnormalities are caused by the absence or duplication of a sufficient number of genes to allow this abnormality to be detected by chromosome studies. Chromosome studies are used to confirm the diagnosis of well described syndromes of deletion or trisomy. These studies are also necessary to determine whether mongolism has been caused by non-disjunction or translocation, so that proper genetic counseling can be carried out in these conditions. Multifactorial conditions are determined by several genes or more commonly, by a combination of genetic and environmental factors. These conditions recur in families in a greater incidence than one would expect in the general population but do not obey the rules of Mendelian inheritance. Genetic counseling cannot be performed without an absolute diagnosis, an absolute knowledge of the patterns of inheritance and a well documented family pedigree. The basic principles of genetics covered in this article should allow the orthopedist to understand when genetic counseling is indicated for his patients.

Bone Diseases↗

PubMed1975

Three familial midline malformtion syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis.

Three syndromes are presented in which major midline malformations of the central nervous system were associated with characteristic somatic and neurologic features in 2 or more sibs. The malformations may be suspected on clinical grouds but require confirmation by pneumoencephalography. In 3 French-Canadian sibships from the Saguenay-Lac St. Jean area of Quebec, patients with areflexia, muscular wasting and slowly progressive weakness in a paraparetic distribution were proved to have agenesis of the corpus callosum and anterior horn-cell disease, a syndrome not previously described. In another family, mental retardation, ataxia and episodic hyperpnea were associated with agenesis of the cerebellar vermis in 4 sibs. In yet another French-Canadian family, atrophy of the cerebellar vermis was associated with mental retardation, ataxia and a mild pyramidal syndrome. Because malformations of this nature are usually considered sporadic or multifactorial in origin, recognition of these specific clinical syndromes with probable autosomal recessive inheritance is important from the point of view of genetic counseling and prevention.

Agenesis of Corpus Callosum↗

PubMed1991

[Various genetic models in Crohn disease].

Crohn's disease has a genetic predisposition. In the light of epidemiological data, especially the type of familial clustering, simple modes of inheritance can be excluded. At the first glance, our results implied a polygenic multifactorial basis. Further processing of our data by the "mixed model" of Morton revealed a higher probability for a recessive gene with low penetrance. However, the differences in fit between the various models are relatively slight. Also considering ascertainment problems, a definite decision concerning an appropriate model must be deferred until sure genetic markers have been identified. Nevertheless, only a certain number of manifestations may be ascribed to a genetic predisposition, others have to be catagorized as phenocopies.

Adolescent↗

PubMed1986

[The main etiologic groups of congenital developmental defects and the problems of diagnosis and thanatogenesis].

The proportion of congenital developmental defects (CDD) in children decreased in perinatal or early age is increasing. According to national and foreign data this figure is in the range of 21-41%. The etiologic structure of CDD for the last 5 years (1980-1984) basing on the data from the Minsk Teratologic Center has not practically changed. As in the previous 5 years, 50.8% of CDD belong to multifactorial ones, 14.3% are due to single gene mutations (8.4% of them are inherited according to dominant type and 5.9%--according to recessive type). Chromosome and gene mutations caused 7.9% of CDD. About 2% of CDD are induced by the effect of environmental factors on the embryo (less frequently on the fetus). Etiology of 25.1% of CDD is not clear.

Congenital Abnormalities↗

PubMed1988

The molecular genetics of complex inherited diseases.

The majority of inherited diseases are due to unknown biochemical defects, or are either polygenetic or multifactorial. Due to advances in molecular genetics, it is now possible to study these conditions, either by reverse genetics (using cloning techniques to move from linkage to gene, and then determining the protein involved) or by dissecting a complex disease into a set of monogenic paradigms.

Chromosome Mapping↗

PubMedDate not supplied

[Evaluation of hemostasis in venous thromboembolism pathology].

Thromboembolic disease results from an hypercoagulable state and multifactorial causes may lead to hypercoagulability. Thrombogenic risk factors can be acquired and/or inherited. For each thrombophilic patient, the main clinical features retained are: the patient age, the familial history, the recurrence of thromboembolic events, an unusual site of thrombosis. Anti-phospholipid antibodies, which are considered as acquired thrombogenic risk factors, can be detected with coagulation tests and/or Elisa methods. The association of antiphospholipid antibodies with thrombosis is defined as the anti-phospholipid syndrome. Last decades, genetic risk factors were identified. First of all, antithrombin, protein C and protein S deficiencies were described. These deficiencies are involved in about 10% of patients who develop thrombosis before the age of 50. In 1993, a new genetic risk factor was discovered: activated protein C resistance which is due to the Q506 mutation in factor V. This defect represents the most prevalent abnormality of inherited thrombophilia, affecting 20 to 40% of thrombophilic patients. Interestingly, hyperhomocysteinemia, known as potentially predisposing to arterial disease, was also recognized as a risk factor for venous occlusive disease. Several genes encoding homocystein metabolism enzymes, such as cystathionine beta-synthase or methylenetetrahydrofolate reductase are concerned. Establishment of a causal association between the presence of a biological abnormality and the occurrence of thrombosis may lead to an adapted prophylaxis whatever the risk situation.

Antiphospholipid Syndrome↗

PubMed1998

Segregation analysis of epithelial ovarian cancer in Finland.

Epithelial ovarian cancer is known to aggregate in families. The dominantly inherited ovarian cancer predisposing genes, BRCA1, BRCA2 and genes involved in the hereditary non-polyposis colorectal cancer (HNPCC) syndrome, have recently been identified. However, in the majority of families with more than one case of ovarian cancer, dominant inheritance cannot be recognized. We investigated familial clustering of epithelial ovarian cancer in a population-based sample of 663 Finnish ovarian cancer patients. A segregation analysis with the POINTER software was conducted on the 937 nuclear families from these 663 pedigrees. The major gene model was favoured, and the sporadic and multifactorial models were strongly rejected. In the studied population, the best fitting model was a recessive mode of inheritance, and 8% of ovarian cancer patients were estimated to be homozygous for the deleterious genotype. This evidence for recessively inherited ovarian cancer predisposition should be interpreted cautiously, as the analysis is subject to certain errors, which are discussed in the article. Results of this analysis, however, strongly emphasize the role of genetic factors in all familial aggregation of epithelial ovarian cancer.

Adult↗

PubMed2002

Mode of inheritance of hand osteoarthritis in ethnically homogeneous pedigrees.

The aim of the present study was to investigate the extent and mode of inheritance of hand osteoarthritis (OA) using a large sample of ethnically homogeneous pedigrees. Two types of segregation analysis (SA) models were examined. Type I models used the data adjusted for potential significant covariates, particularly age and sex, prior to genetic analysis. Type 11 models incorporated effects of the potential covariates into major gene penetrance functions, permitting an account of the genotype covariate-specific effect on study variables. The results of this study strongly supported the hypothesis of a major gene effect and additional multifactorial component. The best-fitting model was the Mendelian one with an additive type of inheritance. The estimates obtained using the standard three-factor variance decomposition analysis suggest that age (72.8%) and major gene (14.5%) are the main sources of interindividual differences in the development of hand OA. The contribution of the putative major gene on age- and sex-adjusted OA phenotype variation was 55% in the present study.

Adult↗

PubMed1972

A genetic study of infantile and juvenile myasthenia gravis.

From the present study, and from reports in the literature, two forms of childhood myasthenia emerge. There is an early-onset form (with onset of symptoms under 2 years of age) where the illness is milder but more persistent, and where there is frequent occurrence of myasthenia in sibs. Such cases are likely to be inherited as an autosomal recessive, although it is possible that they represent the extreme edge of a multifactorial distribution of combined genetic and environmental aetiology. The second group (with onset of symptoms between the age of 2 and 20 years) clinically resembles adult myasthenia, which is associated with autoimmunity and an increased incidence of thyroid dysfunction. Some genetic contribution occurs in this form but it is less marked than with the early-onset cases and there is no recognizable pattern of inheritance. As secondary cases are even less common among the families of adult myasthenics, it is likely that individuals with most genetic predisposition to myasthenia tend to develop symptoms early, and that non-genetic factors are relatively more important for the development of myasthenia in adults.

Adolescent↗