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At least 19 recordsLinked to original sources
PubMed1986

[Medico-genetical study of the Uzbekistan population. IX. Variability of hereditary pathology, territorial distribution of hereditary diseases and hereditary disease load in the population of the Urgut district of the Samarkand region].

Medical-genetic study was carried out in the population of Samarkand province (the population size about 150 000). Hereditary pathology was ascertained among families with two or more affected members with chronic diseases. 110 families with 210 patients were registered. The most frequent were autosomal-recessive disorders (42 nozological forms). 15 nozological forms are probably "new" conditions in this province, because they were absent in our previous medical-genetic study of this province. A tendency to local accumulation of families with the same disorder in small populations was observed. The load of autosomal-recessive disorders comprised 2.2 X 10(-3) affected, that of autosomal-dominant disorders being 0.51 X 10(-3) and of X-linked disorders being 0.25 X 10(-3) males. The importance of assortative maitings in manifestation of rare autosomal-recessive genes in Uzbek population is discussed.

Female↗
PubMed1989

Genetic correction of hereditary disease.

Several hereditary disorders may be potentially correctable by the introduction and incorporation of the normal gene into human tissues using a variety of systems. Although technical issues surrounding integration, stable expression and potential insertional mutagenesis to the treated cells has not yet been fully resolved, enough scientific progress has already been made to consider somatic cell gene therapy acceptable from both the scientific and ethical viewpoints. Tissue-specific stem cell and embryonic stem cell transplantation will allow therapy earlier in the developing embryo. As technical problems are eliminated, these procedures will become morally permissible, as they will allow the correction of devastating hereditary disease.

Ethics, Medical↗
PubMed1988

[Lipoidosis of the glomerular mesangium with accumulation of cholesterol. A novel hereditary disease].

A new hereditary disease, transmitted autosomal-dominant, which affects the kidneys has been observed in four members of the same family, three males and a woman. No specific clinical manifestations of the disease have been established. A slight proteinuria was first revealed at the age of 17 years. After about twenty years of moderate proteinuria and microscopic hematuria terminal renal failure and severe arterial hypertension occur. Specific for the disease is the storage of lipids, mainly cholesterol and phospholipids in the glomerular mesangium. No lipid storage in other renal structures or other organs could be established. As no changes of cholesterol and triglycerides in the serum have been recorded a general disturbance in their turnover may be excluded. The storage of cholesterol in the mesangial matrix in form of crystals in vitro is specific for the reported hereditary disease and distinguishes it from other diseases in which a glomerular storage of cholesterol is well known.

Adult↗
PubMed1997

[Diabetes mellitus in connection with a hereditary disease].

Diabetes mellitus is usually subdivided into type I (insulin-dependent) and type II (relative insulin shortage and reduced sensitivity to insulin). Diabetes may also be related to pregnancy, malnutrition, pancreatic disease, pharmaceuticals, endocrine diseases and hereditary disorders. The hereditary diseases which may be associated with diabetes mellitus or impaired glucose tolerance can be subdivided into syndromes (such as maternally inherited diabetes and deafness, Down, Turner and Klinefelter syndrome), metabolic diseases (like cystic fibrosis and haemochromatosis) and endocrine diseases (like polyglandular autoimmune insufficiency syndrome and familial phaeochromocytoma). Although diabetes mellitus as part of a hereditary disorder is infrequent, the possibility should be kept in mind with a view to a correct diagnosis. In patients with diabetes mellitus a hereditary disorder may be involved, while patients with a hereditary disorder run a higher risk of developing diabetes mellitus.

Cystic Fibrosis↗
PubMed2005

[Strengthen the scientific research on oral hereditary diseases].

There are many kinds of oral hereditary diseases. Although some attempts have been tried to find the genetics of those diseases, still fewer information are available than the other hereditary diseases at present. Much is needed to do in the future. This article reviewed some cutting-edge findings on the genetics of several oral hereditary diseases including hereditary diseases involving the teeth, periodontal tissues, soft and hard tissues of the oral and maxillofacial region, as well as cleft lip and palate.

Cleft Lip↗
PubMed1995

[Leber's optic nerve atrophy; a mitochondrial hereditary disease].

Leber hereditary optic neuropathy (LHON) is a heritable disorder, clinically characterized by rapidly progressive loss of central vision due to severe bilateral optic atrophy. The disease predominantly occurs in men. The clinical picture shows marked interpersonal variation. Recently it has been established that LHON is associated with at least three specific mutations in the mitochondrial DNA, which explains the non-Mendelian, strictly maternal inheritance. The presence of different mutations implies that there is not only clinical but also genetical heterogeneity. Since all matrilinear family members carry the mtDNA mutation involved, but only 30-50% of males and 5-15% of the females develop LHON, other etiological factors, hereditary or exogenous, remain to be discovered. Identification of these factors is of major importance to understand the pathogenesis and to explore the possibilities for therapy and prevention of LHON.

Adult↗
PubMed1991

DNA typing in hereditary disease.

An increasing number of hereditary diseases are becoming amenable to diagnosis by analysis of DNA as the responsible genes are located and identified. Gel electrophoresis of DNA fragments plays a central role in the diagnosis of hereditary disease. Electrophoretic separation of differently sized fragments enables the characterization or typing of normal variants which are known to be genetically linked to disease genes. For some diseases it is possible to directly detect mutations by DNA electrophoresis. Deletion mutants may be detected by a restriction fragment of altered size or by a failure to amplify a coding region with the polymerase chain reaction. Carriers of small deletions, involving a few base pairs, may be identified by DNA amplification which produces heteroduplexes that show characteristic, anomalous electrophoretic migration. Mutations that alter restriction sites also alter the sizes of restriction fragments. Common disease mutations that alter a single base pair may be detected using a pair of reactions with normal and mutant oligonucleotides under conditions where a perfect match is necessary for hybridization, amplification or ligation. Alternatively a mismatched oligonucleotide primer may be designed to generate a restriction site with either the normal or mutant allele, following DNA amplification. Finally a number of techniques are available that are useful as screening tools for novel mutations.

Base Sequence↗
PubMed2001

[Quality control of DNA testing in hereditary diseases].

The laboratories performing diagnostic studies regarding hereditary diseases and the specialists providing hereditary counselling are housed in clinical genetic centres. The laboratories are subject to the Special Medical Performances Act and have had licenses from the Ministry. The DNA diagnostic laboratories united in the National Committee on DNA Diagnostics, engaged among other things in quality control. The large number of tests requested and the dramatic consequences for the patient and his relatives necessitate high quality standards. The laboratories made a division of labour for analysis of most disorders, in order to acquire and maintain expertise in spite of rarity of most hereditary diseases. For adequate handling of requests for DNA diagnostic tests, it is important that the patient material be sent directly to the laboratory specialized in the disorders in question, for the request form to be filled out completely and for the patient data to be stated on the blood tube. A regularly updated review of the DNA diagnostics in the Netherlands can be found on the website: http://www.unimaas.nl/ approximately LOD/lod.htm. This list indications per centre and information such as required material and maximal results deadlines.

Genetic Diseases, Inborn↗
PubMedDate not supplied

[Effect of genetic structure on hereditary diseases in Russian populations].

Several characteristics of the lead of hereditary diseases can be distinguished. These include: the mean values of a prevalent autosomal dominant; autosomal recessive and X-linked recessive disorders in a population; the spatial distribution of families with hereditary diseases, especially those with autosomal recessive disorders in a population; and diverse hereditary pathologies in the population. All these characteristics are shown to be influenced by the genetic pattern of Russian populations, namely by random inbreeding which varies significantly in northern rural populations, but which is virtually equal to 0 in northern urban and southern Russian populations. The rate of migration is another factor of the genetic pattern which also affects the load of hereditary diseases.

Genes, Dominant↗
PubMed1981

[Quantitative evaluation of the T- and B-systems of immunity in various hereditary diseases of the nervous system].

In 37 patients with some hereditary diseases of the nervous system (deforming muscular dystonia, hepatocerebral dystrophy, essential tremor, etc.), as well as in 22 healthy subjects (donors), the percentage and the absolute content of the T- and B-lymphocytes in the blood were determined. Use was made of the reactions of spontaneous, active, and complementary rosette formation and determination of the B-cells from superficial immunoglobulins. In all the hereditary diseases listed a drop of the content of thymus-dependent lymphocytes and an increase of the capacity of lymphocytes for complementary rosette formation were revealed. The data obtained can be, probably, interpreted as evidences of a secondary immunodeficient state, possibly, caused by metabolic disturbances which are known to play an essential role in the pathogenesis of hereditary diseases of the nervous system.

Adult↗
PubMed1997

Evaluation of a project to enhance knowledge of hereditary diseases and management.

During 1992 and 1993, in a designated suburban area of Perth, Western Australia, information on hereditary disease was provided for health professionals and the general community. This information was in the form of posters, pamphlets, postal flyers and return letter cards, a static display, newspaper articles, advertisements and radio broadcasts, and professional seminars. The aim of this project was to evaluate the effectiveness of combined strategies to convey practical information about hereditary disease to the community and health professionals. Multiple measures of response evaluation were used, which included structured questionnaire surveys of health professionals and members of the community before and after the project. In the community surveys, respondents who were female, married, middle aged, and parents, and had a higher level of education or were born in Australia, New Zealand, or the United Kingdom were generally better informed about hereditary diseases. This intervention resulted in only meagre changes in community knowledge about hereditary disease, even though promotional materials were shown to be appropriate. General Practitioners (GPs) and Child Health Nurses (CHNs) were supportive of clinical genetic services and recognised a need for continuation of education in this field. There is a rapidly increasing need for community and health professional comprehension of the applications of the new genetic technology. This project indicates that routine educational and health promotion strategies will not be enough to achieve desired levels of knowledge and attitude change.

Adult↗
PubMed1995

[Meniere disease as an autosome dominant hereditary disease].

Within one year (1993) we found a positive family history in five out of forty-eight new patients with Menière's disease, corresponding to a frequency of 10.4%. We found between two and seven cases in each of five families. The disease followed a dominant autosomal hereditary pattern over two to four generations. Audiometric and vestibulometric examination confirmed the diagnosis. Clinical emphasis was placed on trigger factors such as infections, physical and psychological stress, the autonomic system, and metabolic and endocrinological disorders. There was no evidence of a significantly high incidence of any single trigger factor. The most important result of this study, which also included human leucocyte antigen (HLA) typing, is the fact that HLA A2 was represented in 90% of patients with positive family history of Menière's disease and in 75% of patients with solitary Menière's disease in contrast to only 28.9% in the average European population. The frequency of HLA B44 was 70% in family-linked Menière's disease and 37.5% in single Menière's disease. The frequency in the average European population is 12.3%. What is even more striking is the combination HLA A2 B44, occurring with respective frequencies of 60%, 37%, and 5%. These results suggest a multi-factor etiology of Menière's disease combined with a genetic predisposition, which might be caused by mutations on the short arm of chromosome 6.

Adult↗
PubMed1992

[Effects of consanguineous marriages on hereditary diseases: a study of the Han ethnic group in different geographic districts of Zhejiang Province].

The frequency and effects of hereditary diseases of consanguineous marriage (CM) in 210 965 Han nationality people in different districts of Zhejiang province were investigated. Of 44342 couples in three different regions, 951 (2.14%) were proved to be of CM. The frequency of CM was 3.02% in Mi as against 1.13% in Pi and 2.50% in Ii. There were 19 types and 81.07% of CM occurred in the first cousins, of which 0.95% occurred in semisiblings. The frequency of hereditary disease and the mortality before the age of 20 in the offsprings of CM were significantly higher than those of non-CM (P < 0.01). 104 types of hereditary disease and congenital malformation were found. The frequency of mental retardation was 2/1000. There were 197 high risk families which contained 19-types of hereditary disease.

China↗