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PubMed1989

[Recessive oncogene and loss of heterozygosity].

Recessive oncogene, which has been originally proposed for the retinoblastoma susceptibility gene, is linked to the development of cancer by missing its gene function followed by the loss of normal allele (often observed as a loss of heterozygosity of neighbouring heteromorphic loci). Recent studies on the loss of heterozygosity in cancers indicate that mutations of such genes are relatively common in human cancers, and play a significant role in the dedifferentiation, progression and evolution of cancers as well as the initiative role. Such initiative and cooperative role of recessive oncogene opened a new field relating to the research on the genetic origin of cancer, evolutional implications of cancer development, and molecular diagnosis for cancer prognosis.

Chromosome Deletion↗
PubMed1989

[Gingival recession: what to do?].

The qualitative and quantitative character of the marginal gingiva is not the only cause of root exposure, as mechanical factors can favorize and/or aggravate gingival recession. Suggested therapy is dependent on patient motivation and the evolution of the lesions. Even though there are multiple possibilities for the treatment of gingival recession, one must remain prudent when restoring areas of root exposure, as no protocol exists today which can assure constant success.

Epithelial Attachment↗
PubMed1988

[Medico-genetic study of the Kostroma Region population. VIII. Genetic structure of large subdivided populations and its relation with the incidence of autosomal-recessive pathology].

FST was estimated for 67 communities and 6 small towns of Kostroma province. The mean FST value for rural and urban populations was (0.83 +/- 0.08).10(-3) and (0.29 +/- 0.07).10(-3), respectively. The connection between FST values and the load of autosomal-recessive disorders was established; the coefficient of correlation (by Chuprov) was 0.34 (chi 2 = 8.45; P less than 0.05). The matrices of genetic distances for two groups of districts of Kostroma province, based on surnames frequencies, were calculated. Dendrogramms were constructed using genetic distances, which reflect the degree of genetical similarity of the populations. The conclusion drawn from the analysis of these dendrogramms is that there is distinct isolation by distance in populations of Kostroma province. It is shown that genetical subdivision of populations is dependent on geographical and some other factors and on the load of autosomal-recessive pathology in the population.

Genes, Recessive↗
PubMed1988

[Andrologic studies in patients with X-chromosome recessive ichthyosis].

In the past there have been several reports of testicular abnormalities (hypogonadism, cryptorchidism and so-called atypical germ cells) in patients with recessive X-linked ichthyosis. Anamnestic interviews, clinical as well as chemical investigations in ten patients (aged 25-52 years) with recessive X-linked ichthyosis have been undertaken in order to examine their endocrine and exocrine testicular function. Normal serum levels of gonadotropins were observed in nine of ten patients, while four of ten men had decreased levels of dehydroepiandrosterone. In addition, in eight of these ten patients spermatological alterations were found: two patients suffered from oligozoospermia, while asthenozzospermia occurred in seven patients and teratozoospermia was registered in three men. Although andrological abnormalities were found in five out of ten patients (cryptorchidism, varicocele), the high incidence of spermatological alterations is remarkable. Further investigations will be necessary to clarify whether steroid sulphatase is responsible for some of these alterations, especially for the pronounced asthenozoospermia.

Adult↗
PubMed1986

Bent-limb disease in lambs. Apparent transmission with an autosomal recessive gene linked to the OL-Z minor lymphocyte antigen locus and the I locus involved in the expression of R and O antigens in sheep.

In crossbred Charmois lambs, Bent-limb disease appears to be associated with the phenotype 'z,i' which corresponds to a doubly recessive genotype at the two loci OL-Z (a minor lymphocyte antigen locus independent of OLA, the major histocompatibility complex of the sheep) and I (involved in genetic control of the expression of R and O antigens found in various body fluids and on erythrocytes). The disease seems to be controlled by a single autosomal recessive gene, provisionally named bl (its normal or healthy allele Bl being dominant) which is distinct from, though linked to, the genes at the OL-Z and I loci (observed haplotype: bl,z,i). In the Lacaune breed, besides the already observed bl,z,i haplotype, there is an additional one: bl,z,I. In Vendéen sheep, and in animals which belong to two other breeds, the bl,Z11,I haplotype (bl linked to the two dominant alleles) appears to be relatively frequent. Further studies are needed in order to confirm the genetic hypothesis suggested by the present data.

Alleles↗
PubMed1986

Study of elastase-type activity in blister fluids of recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is characterized clinically by blister formation due to minor trauma and ultrastructurally by a progressive disappearance of anchoring fibrils at the dermoepidermal junction and of the oxytalan-type fibers which belong to the elastic fiber system. In this study, we determined the elastase-type activity in blister fluid obtained from 8 patients suffering from RDEB as compared to the suction fluid of experimental blisters in a healthy person and to the blister fluid of a patient suffering from epidermolysis bullosa simplex. One patient with dominant dystrophic epidermolysis of the albopapuloid type was also studied. Seven of the eight children with RDEB showed highly elevated values. The eighth child, treated with etretinate, as well as the patient suffering from dominant epidermolysis bullosa had moderately increased values. The determination of elastase-type activity in the blister fluid could therefore be useful to establish the differential diagnosis of recessive dystrophic epidermolysis bullosa.

Blister↗
PubMed1986

[Genetic study of eight cases of spondylo-epiphyseal dysplasia tarda and its autosomal recessive transmission].

Spondylo-epiphyseal dysplasia tarda is an hereditary disease of bone first described by Maroteaux in 1957. The disease affects only boys, then is transmitted on X-linked recessive pattern. The authors describe two tunisians families with 8 patients presenting clinical and radiologic symptoms resembling spondylo-epiphyseal dysplasia tarda but affecting both sexes. Autosomal recessive inheritance is probable in these families. Conclusion is that genetic heterogeneity of the disease must be precise.

Adult↗
PubMed1985

A recessive mutation (ter) causing germ cell deficiency and a high incidence of congenital testicular teratomas in 129/Sv-ter mice.

The genetic basis of a germ cell deficiency, accompanied by a high incidence of testicular teratomas, was studied in strain 129/Sv-ter mice (formerly designated "129/terSv"). Germ cell deficiency became more severe with advancing age in males, and they were sterile whether or not they had bilateral teratomas. Germ cell-deficient testes were smaller than normal except when the testes had teratomas. In females the ovaries were smaller than normal, but the germ cell deficiency did not progress and most were fertile. The germ cell deficiency resulted from the homozygous state of a recessive mutant gene designated "teratoma (ter)." Matings between females with small ovaries and homozygous normal males produced no germ cell-deficient offspring. When F1 offspring with normal gonads were mated together, germ cell-deficient F2 animals appeared at a frequency close to 1 in 4. When females with small ovaries (ter/ter) were mated with heterozygous males (ter/+), half of the offspring were germ cell deficient. It was concluded that the genetic factor is a single recessive gene. The incidence of teratomas in +/+ strain 129/Sv-ter males was 1.4% (3/216), and all teratomas were unilateral. Seventeen percent (20/117) of heterozygous males had teratomas, of which 18 were unilateral and 2 were bilateral. Ninety-four percent (167/178) of homozygous ter/ter males had teratomas, of which 75% were bilateral. Introduction of the mutant gene ter onto the C57BL/6 genetic background resulted in germ cell deficiency in homozygotes, but it reduced considerably the teratoma incidence in ter/ter males.

Alleles↗
PubMed1986

Reevaluation of cytochrome b and flavin adenine dinucleotide in neutrophils from patients with chronic granulomatous disease and description of a family with probable autosomal recessive inheritance of cytochrome b deficiency.

Chronic granulomatous disease (CGD) is a genetically heterogeneous syndrome characterized by a microbial killing defect of polymorphonuclear leukocytes (PMNs) due to lack of superoxide O2-. 2 generation. Recent studies indicate that the neutrophil O2-.-generating system consists of at least two components, flavoprotein--flavin adenine dinucleotide (FAD)--and cytochrome b. We evaluate the cytochrome b and FAD content in PMN from 30 CGD patients. The method for quantitating cytochrome b was modified by using PMN sonicates incubated with azide plus hydrogen peroxide. With this approach, several absorption peaks corresponding to myeloperoxidase and eosinophil peroxidase, which overlap with peaks of cytochrome b, were obliterated from reduced-minus-oxidized spectra, whereas the peaks of cytochrome b were not and could be readily quantitated. Cytochrome b was detected in PMNs from all 24 normal adults (47.4 +/- 2.9 pmol/7.5 X 10(6) cells), was absent in PMNs from 11 male CGD patients and one female CGD patient but was present in normal amounts in PMNs from nine male and nine female CGD patients. Stimulated nitroblue tetrazolium (NBT) tests performed on PMNs from mothers of CGD patients indicated that cytochrome b deficiency was associated with X-linked inheritance, except in one case in which probable autosomal recessive inheritance was demonstrated. The PMN NBT test of the mother of another male patient without cytochrome b deficiency suggested an X-linked form of inheritance. In related studies, the FAD content in PMN particulate fractions was reduced in 4 of 28 CGD patients studied. All four CGD patients with reduced FAD lacked cytochrome b. However, three patients with cytochrome b deficiency had normal FAD. Thus, the results indicate that PMN cytochrome b deficiency is observed in most X-linked and in some autosomal recessive CGD, that cytochrome b deficiency may be associated with FAD deficiency, and that cytochrome b and FAD are normal in most patients with non-X-linked CGD.

Adult↗
PubMed1985

[Therapy of esophageal stenoses in recessive epidermolysis bullosa dystrophica].

Stenosis or complete occlusion of the oesophagus are potentially life-threatening complications of recessive dystrophic epidermolysis bullosa. Consequences are malnutrition, growth retardation, aspiration, or cachexia. Total replacement of the oesophagus by colon interposition has been recommended in such patients. We report on successful conservative management. We applied recently developed knowledge concerning the defective collagenase involved in this disorder and oesophageal dilatation. Phenytoin has been shown to reduce the excessive production of collagenase and thereby to diminish blistering of skin and mucous membranes and stricture formation of the oesophagus. Stepwise dilatation of oesophageal strictures instead of bouginage represents a less traumatic way to restore the oesophageal lumen. The lumen can be maintained by soft nasogastric feeding tubes which may be removed later on after successful dilatation. Oesophageal passage has been maintained for up to 4 years. The management of these severe complications of recessive dystrophic epidermolysis bullosa requires interdisciplinary efforts of dermatologists, internists and otorhinolaryngologists.

Child↗
PubMed1984

[Chronic X-linked recessive bulbospinal amyotrophy (Kennedy-Stefanis type). Apropos of a case].

A new observation of chronic X-linked recessive spinal amyotrophy is reported. This series of cases fits the description of Kennedy-Stefanis chronic spinal amyotrophy, whose main characteristics are: sex-linked recessive inheritance, weakness and bulbo-spinal amyotrophy with proximal predominance, facio-lingual fasciculations, areflexia, gynecomastia in half of cases, very slowly progressive course, neurogenic EMG with normal nerve conduction velocities, and neurogenic muscle biopsy.

Biopsy↗
PubMed1978

Cartilage matrix deficiency (cmd): a new autosomal recessive lethal mutation in the mouse.

A new autosomal recessive lethal mutation in the mouse designated cartilage matrix deficiency (cmd) is described. Homozygotes are dwarfed, and have abnormally short trunk, limbs, tail and snout, as well as a protruding tongue and cleft palate. The abdomen is distended because the foreshortened rib cage and spinal column forces the liver ventrad from its normal location. Histological and electron microscopic study reveals a deficiency of cartilage matrix in tracheal cartilage and in all cartilagenous bones examined. The syndrome closely resembles the rare lethal condition achondrogenesis, found in human infants, which is also believed to be due to an autosomal recessive gene.

Animals↗
PubMed1984

A score test for the possible presence of recessive alleles in generalized ABO-like genetic systems.

In generalized ABO-like genetic systems, particularly for certain human leukocyte antigen (HLA) loci, it is quite likely, even for large sample sizes, that no double recessives (or 'double blanks') may be found. It has been suggested that all such data should be analyzed as if the true recessive gene frequency were 0. We derive an easily computed score [or C(alpha)] statistic which tests for the possibility that, in such instances, this frequency may exceed 0. An associated point estimator is suggested. The methods are applied to the data analyzed by Smouse and Williams (1982, Biometrics 38, 757-768).

ABO Blood-Group System↗
PubMed1983

A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission.

A new visceral myopathy family was identified. The disease in this family is transmitted by an autosomal recessive gene. Only 3 patients were identified from approximately 1500 family members. All 3 patients are the products of intermarriage. The patients had gastric atony, dilatation of the entire small bowel, and multiple diverticula throughout. Pathology of the jejunum showed fibrosis and degeneration, mainly of the longitudinal muscle layer, indistinguishable from that of previously reported families. Two of the patients also had ptosis and external ophthalmoplegia. Jejunal manometric studies were performed on the proband's asymptomatic mother and five siblings. All had normal esophageal manometric studies and upper gastrointestinal x-rays. The mother and three siblings had abnormal jejunal manometric studies characterized by the absence of phase 1 in some of the migrating motor complexes and increased motility indices in phase 2. We conclude that familial visceral myopathy can be transmitted by an autosomal recessive gene, and that jejunal manometry is a sensitive technique to identify asymptomatic heterozygotes.

Adult↗
PubMed1981

Genetics of Type I diabetes mellitus: a single, recessive predisposition gene mapping between HLA-B and GLO. With an appendix on the estimation of selection bias.

Three different published sets of HLA-typed families of juvenile diabetes mellitus (JDM) patients have been analyzed. There was no significant genetic heterogeneity between them according to the criterion of Morton, and the total material was analyzed on the assumption of a single recessive (JDM-P) gene with incomplete penetrance. The analysis, carried out with the NYLIP program modified to account for penetrance less than 1 and for selection bias, yields highly significant lod scores for linkage between HLA and JDM-P, with a maximum value of 7.40 at theta = .05 +/- .03. The segregation of HLA and GLO in five affected sib pairs, in which one of the sibs carries an HLA/GLO recombinant, places JDM-P closer to HLA than the GLO locus: four of these five pairs are HLA-identical and GLO-different, in agreement with the conclusions of the formal linkage analysis. The data from these three independent sets of families are therefore consistent with our earlier claim that JDM is inherited as a recessive trait closely linked to HLA with reduced penetrance, and its analysis does not require more complicated genetic models.

Chromosome Mapping↗
PubMed1981

[Congenital recessive moderate sensorineural hearing loss].

A case of familial moderate sensorineural hearing loss without associated abnormalities is described. The audiometric findings suggest a cochlear lesion. the hearing loss is non-progressive. An autosomal recessive inheritance is likely. These findings correlate with a "recessive congenital moderate sensorineural hearing loss" first described by Konigemark et al. (1970).

Adolescent↗
PubMed1995

Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure.

Erythropoietic protoporphyria is caused by inherited deficiency of the haem synthetic enzyme ferrochelatase, and is characterized by lifelong photosensitivity. About 5% of patients also develop rapidly progressive liver failure. Inheritance is considered to be autosomal dominant, with transmission of a single ferrochelatase defect from one parent. We describe a family in which two siblings with protoporphyria suffered from severe photosensitivity and developed hepatic failure requiring liver transplantation. Their asymptomatic parents were heterozygous for distinct ferrochelatase gene mutations (exon 10 donor site a(+3)-->g and 1088T-->G). Both mutations disrupt splicing of the transcript and cause partial deficiency of ferrochelatase. The affected offspring were compound heterozygotes for these mutations. These patients suffered from an autosomal recessive form of protoporphyria characterized by severe photosensitivity and cholestatic liver disease in adolescence. We postulate that hepatic failure in erythropoietic protoporphyria may in some cases represent an autosomal recessive type of ferrochelatase deficiency distinct from the purely dermatological disorder. Studies of disease inheritance in families affected by protoporphyria may help identify those predisposed to develop severe liver complications, a distinction not currently possible.

Adolescent↗