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At least 1,261 records · Page 70Linked to original sources
PubMed1991

DRB genotyping supports recessive inheritance of DR3-associated susceptibility to insulin-dependent diabetes mellitus.

The mode of inheritance of HLA-associated susceptibility to insulin-dependent diabetes mellitus was investigated by the antigen genotype frequency among patients method in a white Caucasian population and a North Indian Asian population. DR genotypes were determined by DRB/DQB RFLP analysis. In white Caucasians, simple recessive and simple additive inheritance of a single HLA-associated disease susceptibility allele were rejected (P less than .025 and P less than 10(-6), respectively). The data were compatible with a three-allele model of disease susceptibility. In North Indian Asians, simple additive inheritance was rejected (P less than 10(-6)). The observed genotype frequencies were compatible with a single DR3-associated disease susceptibility allele which is inherited recessively. These data show that study of DR genotypes in populations of different ethnic origins may further the understanding of inherited susceptibility to insulin-dependent diabetes mellitus.

Diabetes Mellitus, Type 1↗
PubMed2006

Gingival recession and pathologic migration due to an unusual habit.

Various etiologies are implicated as causes of gingival recession and pathological tooth migration, most prevalent among these being the tissue destruction caused by periodontal pathogens. One of the least documented causes is a parafunctional habit, such as digit-sucking or sucking on objects like pencils, pens or toothpicks, all of which can lead to adverse effects on the dentition and the periodontal tissues resulting in midline diastema, alveolar bone loss, gingival recession, mobility, and ultimately tooth loss. This case report describes the periodontal injury caused by an unusual habit of placing a coin between the mandibular anterior teeth. The potential effects of this habit on the dentition and periodontium are discussed; the preventive measures to be taken and the outline for the management of such cases, to ensure periodontal health of the patient are dealt with in this report.

Adolescent↗
PubMed2006

[Role of recessive and dominant mutations in adaptation of the genus Rana to modern biosphere].

The populations of three anuran amphibian species (Amphibia, Anura) of the genus Rana (R. ridibunda Pall., R. arvalis Nilss. and R. temporaria L.) inhabiting the Yekaterinburg urban agglomeration were examined. The frequencies of two traits, morph striata and iris depigmentation, were estimated in these populations. The former trait, so-called morph striata, is phenotypically expressed as a light dorsomedial stripe. It is controlled by a dominant allele of autosomal diallelic gene striata in some species of Rana genus, exhibiting complete dominance. Striata individuals have a number of physiological features that confer them an advantage under conditions of natural and artificial geochemical anomalies. The second trait, iris depigmentation, is the result of a recessive mutation. The individuals homozygous for this trait have low viability. Thus, the dominant mutations promote rapid adaptation of their carriers. Conversely, the recessive mutations may reduce viability of an individual.

Adaptation, Biological↗
PubMed2006

[Autosomal recessive ethnic diseases of Czech Gypsies].

Roma (Gypsy ethnic) form a genetically isolated ethnical group of the identical origin with the world population of 10 to 14 millions derived from a limited number of so-called founders. Majority (about 8 millions) of Roma ethnic live in Europe, namely at Balkan and in the southwest of Europe. Roma have specific hereditary diseases, namely those caused by recessive genetic mutations. The molecular-genetic mechanism has been recently elucidated and confirmed in several diseases of the Roma population. Owing to the significant proportion of Roma in the population, patients with those diseases are possible to meet also in the Czech Republic. However, the diagnostics of those diseases is frequently difficult and they are often under diagnosed or misdiagnosed. The article gives examples of autosomal recessive diseases, which can be confirmed at the DNA level which occur in Roma population of the Czech Republic: syndrome of congenital cataract, facial dysmorphism and demyelinating neuropathy, non-syndromic prelingual deafness with GJB2 gene impairment and the congenital myastenic syndrome.

Child↗
PubMed1991

[Autosomal recessive oculopharyngeal "muscular dystrophy"--clinical features and association with reduced activity of myophosphorylase].

We reported two cases of brothers demonstrating oculopharyngeal muscular dystrophy (OPMD). The cases had consanguineous parents and five healthy siblings, which suggested the autosomal recessive inheritance. The initial symptom was slowly progressive blepharoptosis with onset in the third decade. On examination, total external ophthalmoplegia was observed in both patients. Additionally, the elder, a 57-year-old man, exhibited dysarthria, dysphagia and muscular weakness with atrophy of the face, bilateral proximal upper limbs and diffuse lower limbs. The younger brother, a 55-year-old man, displayed muscular weakness and atrophy distributed in the face and four limbs. Muscle biopsy of both cases revealed rimmed vacuoles and spheroid bodies in the atrophic and normal-sized fibers. Biochemical study of the biopsy specimens of the elder brother disclosed the myophosphorylase activity reduced to about 40% of the normal value, although in the younger brother, that activity was normal. OPMD is usually inherited in the autosomal dominant mode, and autosomal recessive OPMD is rare. The onset age of our cases was younger than that of the autosomal dominant OPMD. There were some differences in the clinical manifestation between the presented cases, which could be interpreted as phenotypic variation. The elder brother was thought to be associated with McArdle's disease.

Blepharoptosis↗
PubMedDate not supplied

Recessively inherited deficiencies predisposing to cancer.

The genetic factors involved in the multistep process of carcinogenesis can be divided at least into two major categories: 1. Mutated or lost genes, which may directly represent one step in the sequential process (tumour suppressor genes); inheritance of one tumour suppressor gene causes dominant expression of the carcinogenic phenotype (the dominant inheritance is described in the accompanying paper); 2. Other genes, which lead to conditions that favour the development of cancer and generally are inherited in a recessive fashion; they are the subject of this paper. Autosomal recessively inherited diseases, such as xeroderma pigmentosum, ataxia-telangiectasia, Bloom's syndrome and Fanconi's anaemia display increased genome instability (chromosomal fragility and/or DNA-repair deficiencies) and are associated in the homozygote and probably also in the heterozygote state with defined malignancies. Neoplasms particularly of the lymphoreticular system frequently occur in patients with genetically determined immunodeficiencies (e.g. severe combined immune deficiency or Wiskott-Aldrich syndrome). People differ due to their individual genetic constitution in their responses to various classes of carcinogens such as physical and chemical agents, to dietary habits, as well as to viruses. Furthermore, tumours are often found in patients displaying premature aging (e.g. Werner's syndrome). In addition, several metabolic abnormalities such as genetic syndromes featuring chronic liver disease, but also many other inherited metabolic conditions have cancer as a regular or frequent complication.

DNA Repair↗
PubMed1990

[Clinical research on the etiopathology of gingival recession].

Frequency severity of gingival recessions was studied with Stahl and Morris indices. The results showed that the localization of gingival recession was more important on the mandible (37%) than on the maxillary (27.6%) it, also demonstrated the importance of various etiologies and particularly the association of trauma - tooth malposition (81%).

Adult↗
PubMed1990

[Autosomal recessive polycystic kidney].

A case of a 22 years old woman with autosomal-recessive form of kidney polycystosis is presented. The diagnosis was made in early childhood. A combination of renal anomaly and hepatic fibrosis with manifestations of portal hypertension was present. No deviations from the other internal organs were found. At the age of 12 she entered into the stage of chronic renal failure. The last five years she is on dialysis treatment. She had survived several acute bleedings from esophageal varices. The authors are of the opinion that the case is of interest since patients with autosomal-recessive renal polycystosis very rarely reach majority.

Adult↗
PubMed1990

[Squamous cell cancers in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa].

Recessive dystrophic epidermolysis bullosa is one of the most severe hereditary mechano-bullous diseases, characterized by scarring blister formation, nail dystrophy and onycholysis, cutaneous contractures, synechiae, mutilations of the hands and feet and oesophageal stenosis. With increasing age the patients may develop multiple, fast-growing and early-metastasizing squamous cell carcinomas. When epidermolysis is present, precise determination of which of the various forms is concerned is necessary soon after birth, to make it possible to advise parents about the prognosis of the disease and the likelihood of its occurrence in further children. In pregnancies at risk of severe epidermolysis bullosa a prenatal diagnosis should be performed. We present two siblings with recessive dystrophic epidermolysis bullosa, each of whom developed two squamous cell carcinomas.

Adult↗
PubMed1990

[Influence of functional therapy on the gingival recession in patients with wedge shaped defects. A 2.5-year longitudinal study of the etiology of periodontal atrophy].

In 20 patients a free way space of greater than or equal to 1.0 mm and a cuspid protected guidance was formed. A previous study has shown, that prematurity and defective contacts reduce the free way space step by step and induce an artificial clenching. The front teeth was relieved in intercuspal position. The increase sof gingival recessions at the upper jaw was over five times significant slighter in treated patients than one in the 22 men of the control group. There was no significant, differences in the lower jaw. The recessions are represented as a sequence of a chronic biomechanical overloading.

Adult↗
PubMed1990

Simulation of Mendelism revisited: the recessive gene for attending medical school.

Much of the recent confusion concerning studies of complex phenotypes such as neuropsychiatric disorders may derive from the inappropriate assumption of simple Mendelian transmission. This has sometimes led to unrealistic expectations regarding the potential benefits of linkage studies. To investigate how Mendelism may be simulated, we collected data on a common familial behavioral trait, attendance at medical school, among the relatives of 249 preclinical medical students. The "risk" of first-degree relatives going to medical school was approximately 61 times that of the general population. Complex segregation analysis carried out under a unified model provided strong evidence of vertical transmission. The results were compatible with transmission of a major effect, and a recessive model provided as satisfactory a fit as a general single-locus model. Moreover, a commonly applied test, allowing the transmission probability parameter (tau 2) to deviate from its Mendelian value, did not give a significant improvement of fit. Only a more general model where all three transmission probabilities (tau 1, tau 2, and tau 3) were unrestricted resulted in a significantly better fit than did the recessive model.

Education↗
PubMed1990

Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1).

Chronic granulomatous disease (CGD) is a heterogeneous group of inherited disorders of impaired superoxide production in phagocytes. The most common X-linked recessive form involves the CYBB locus in band Xp21.1 that encodes the membrane-bound beta subunit of the cytochrome b558 complex. Two autosomal recessive forms of CGD result from defects in cytosolic components of the phagocyte NADPH oxidase system, p47phox (NCF1) and p67phox (NCF2). By using human cDNA probes we have mapped the genes for these proteins to chromosomal sites. The combined data from Southern analysis of somatic cell hybrid lines and chromosomal in situ hybridization localize NCF1 to 7q11.23 and NCF2 to band 1q25. The NCF1 localization corrects an erroneous preliminary assignment to chromosome 10. In the mouse, the locus corresponding to NCF2 (Ncf-2) was mapped with somatic cell hybrid panels and recombinant inbred strains to mouse chromosome 1 near Xmv-21 within a region of conserved homology with human chromosome 1 region q21-q32. A second site, probably a processed pseudogene, was identified on mouse chromosome 13.

Animals↗
PubMed1989

Recessive inheritance of a relative fat pattern.

We defined a relative-fat-pattern index (RFPI) as the ratio of subscapular skinfold thickness to the sum of subscapular and suprailiac skinfold thicknesses and computed RFPI for 774 adults (age greater than or equal to 25 years) in 59 pedigrees ascertained through cases of cardiovascular disease. Likelihood analysis of RFPI supported recessive inheritance of an allele with a frequency of 46%, which elevated mean RFPI from .412 to .533 when homozygous. The analysis apportioned the variance in RFPI as 42.3% due to the major locus, 9.5% due to polygenic inheritance, and 48.2% due to random environmental effects. Homozygotes for the recessive allele tended to have small suprailiac skinfold thicknesses rather than large subscapular skinfold thicknesses. Homozygotes were more frequent in younger than in older cases of obesity, coronary heart disease, essential hypertension, and diabetes mellitus; the increase was significant for all but diabetes.

Adolescent↗
PubMed1989

[A family of scapula-back type of x-linked recessive muscular dystrophy].

In this paper are described seven men with a scapula-back type of x-linked recessive muscular dystrophy in a family. Onset began in boyhood. The scapula-back muscles were affected, but the calf muscles were normal. All of the patients were able to walk. The oldest patient was thirty-seven years old. Muscular dystrophy was confirmed by electro-myography (EMG), pathologic and CPK examinations. Pedigree analysis indicated x-linked recessive inheritance.

Adult↗
PubMed1989

[X-linked recessively inherited peroneal muscular atrophy].

This article presents a pedigree of 80 members of which there are 13 patients (13 males) with peroneal muscular atrophy. The analysis of this pedigree shows that an affected male married to a normal female will have normal son(s) and carrier-daughter(s). The normal son(s) will have normal offspring, but half the sons of the carrier-daughter(s) will be affected. The pathogenic genes of affected males are transmitted to their daughters, but not to their sons. So this inheritance is of X-linked recessive type. This is the first report of X-linked recessively inherited peroneal muscular atrophy in china.

Adolescent↗
PubMed1989

Non-surgical treatment of pseudo-recession in children and adolescents.

A case of a 7 year-old girl with gingival pseudo-recession at a mandibular permanent central incisor was successfully treated with a non-surgical approach. Patient compliance (oral hygiene), the location of the junctional epithelium in relation to the cemento-enamel junction (pseudo or true recession), the width of the buccal alveolar bone of the affected tooth, the potential for an increase in the width of the attached gingiva and tooth alignment should be taken into account when considering the type of treatment (surgical or not) of uneven buccal gingival margins in children and adolescents.

Child↗
PubMedDate not supplied

[Current therapy of gingival recession].

The muco-gingival surgery represents one of the facet of periodontal surgery. The gingival recessions, characterized by a total attachmentless uncovering the root surface, become an esthetic and painful problem for our patients. The recessions can be treated by different surgical procedures. After a review of the etiologic factors and of the different type of wound healing, the authors describe and illustrate respectively the gingival graft for root coverage and the laterally positioned flap.

Gingiva↗
PubMed1989

[Gingival recession, root caries and its prevalence].

In our study 150 referred patients were assessed for the presence of gingival recession and root caries. The mean age of the patients was 40 +/- 9 years. On average they failed 6.8 teeth. Gingival recession was present in all patients, with mean value of 55.5% denuded dental root surfaces, the most frequently expressed on buccal root surfaces. Number of denuded dental root surfaces increases with patient's age. The root caries lesion was found in 75% of patients. Patients had on average 5.7 treated and untreated caries lesions. The number of root caries lesions increases with age of the patients as well. The mean Index of total root caries was 9.4%. Most frequently root caries of lower molars and premolars was found, mostly on the buccal surfaces, rather than on approximal and lingual surfaces.

Adult↗