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Results for “Genes, Recessive”

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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↗

PubMed1985

Brachygnathia in a herd of Angus cattle.

Seven cases of brachygnathia in a single calf crop (28 calves) were observed in an Angus herd. Two of the affected calves, 1 female and 1 male, were necropsied and anatomically described. Breeding histories and results of pedigree analysis involving the 7 affected calves indicated the cause of the defect to be genetic with the mode of inheritance that of a single autosomal recessive gene.

Animals↗

PubMed1988

A new mutation involving the sublingual gland in NFS/N mice. Partially arrested mucous cell differentiation.

A new mutation in mice affecting the mucous cell differentiation of the sublingual glands is described. The normal mouse sublingual glands are mucus-secreting and virtually all the acinar cells differentiate to mucus-rich cells by the day of birth. In contrast, all endpieces of newborn mutant mice consisted of acini of immature cuboidal cells. However, normal mucous cells, staining intensively with mucin-specific stains such as Alcian blue at pH 2.5 or mucicarmine, appeared in the mutant mice from an early age singly or in groups in a small number of acini, and their number apparently increased with age to occupy over 30% of the total acinar cells. Ultrastructurally, irregular secretion granules of varying electron-density, distinct from ordinary sublingual mucin granules, were frequently observed in the cytoplasm of the immature acinar cells in the mutant phenotype. The genetic analysis showed that a single autosomal recessive gene determined the observed abnormality. This is the first salivary gland mutation and will provide a critical model for the study of salivary mucous cell differentiation.

Aging↗

PubMed1987

Characterization of immunologic and neuropathologic abnormalities in wasted mice.

Mice bearing the autosomal recessive gene "wasted" (wst/wst) have been reported to develop low or absent secretory immune responses, abnormal DNA repair mechanisms, and uncoordinated body movements. We have performed a detailed immunologic and neuropathologic investigation of the disease. Con A and LPS mitogenic responses of splenic lymphocytes as well as total serum Ig levels were equivalent in wst/wst and undiseased control littermates (wst/+ and +/+). Amounts of serum IgM, IgG2a, IgG2b, IgG3, and IgA, however, were reduced in wst/wst animals. FACS analyses of Ig+ and isotype-specific B cell populations revealed similar percentages of Ig+, mu +, gamma +, and alpha + cells in wst/wst and control mice. However, the percentage of "very bright" Ig+ cells as well as "very bright" heavy and light chain-specific B cell subpopulations was increased at least 10-fold in wst/wst B cells as compared with littermate controls. In addition, studies of Ig-specific mRNA accumulation in these animals revealed significant decreases in all isotypes except gamma 3 in spleens of wst/wst mice as compared with littermate controls. Neuropathologic studies in wst/wst mice showed prominent vacuolar degeneration of neurons within anterior horns of the spinal cord and the motor nuclei of the brain stem. No abnormalities were noted in Purkinje cells of the cerebellum nor within myelin sheaths. The abnormalities in the nervous system resembled human motor neuron disease rather than ataxia-telangiectasia as had been reported previously. The immunologic studies suggest that splenic B cells from wst/wst mice have a defect in the ability to "switch" from membrane to secreted Ig. In addition, this mutation provides a mechanism to study regulatory interactions between the immune and nervous systems.

Animals↗

PubMed1986

[Peripheral nerve abnormalities of mutant (PMA) mouse--myelinated fiber counts of sciatic, peroneal, sural and tibial nerves].

A mutant mouse characterized by peroneal muscular atrophy and congenital absence of the peroneal nerve has been described by Esaki et al. and investigated as a possible animal model of Charcot-Marie-Tooth disease or spinal muscular atrophy. However, the nature of the peripheral nerve abnormality of this mutant mouse has not been precisely defined yet. In this study, in addition to the qualitative evaluation of teased fiber and Epon-embedded preparations, the total transverse fascicular area and the total numbers of myelinated fibers per nerve in sciatic, peroneal (proximal and distal), sural (proximal and distal) and tibial (proximal and distal) nerves on both right and left sides were compared between six peroneal muscular atrophy (pma) mice with autosomal recessive gene manifesting mainly the peroneal muscular atrophy and their six control mice to understand and define the peripheral nerve abnormalities. The pma mice showed pes equinovarus bilaterally and their peroneal nerves were absent. No myelinated fibers showing axonal degeneration or segmental demyelination were found on teased fiber preparation. Onion bulb, demyelinated or remyelinated axons and myelin ovoids were not observed in Epon-embedded sections. The mean total transverse fascicular area and mean total number of myelinated fibers per nerve in the sciatic nerve in pma mice was significantly less (p less than 0.02) than that in control mice. On the other hand they were significantly greater (p less than 0.0001) in the sural nerve in pma mice than in control mice.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗

PubMed1986

[Genetic factors in carcinogenesis].

A genetically high risk group for cancer may consist of persons with the following characteristics. Deficient or reduced capacity for repair of DNA damage, mostly occurring in patients with cancer-prone hereditary diseases, and possibly heterozygotes with the autosomal recessive genes of these diseases. The presence of chromosomal diseases with high incidence of cancer (e. g. Down's syndrome). The presence of autosomal dominantly inherited cancer-prone diseases. Efficient capacities for metabolic activation of potential carcinogens or reduced capacities for decomposition of carcinogens. Although the number of persons with a hereditary high risk may be small, heterozygotes of cancer-prone hereditary disease genes may account for a few percent of the general population. Relative risk, however, may be much lower in these heterozygotes than in patients, judging from the epidemiological data for ataxia telangiectasia and xeroderma pigmentosum. Correlation between cancer-proneness in these genetically high-risk groups for cancer and mutability in the cells originating from these persons has not been clearly demonstrated. Family studies and twin studies may provide further aspects for consideration of genetic factors.

DNA Repair↗

PubMed1985

The ML estimation and testing of generalized ABO-like data with no observed double recessives.

The general method of the discrepancy or heterogeneity chi-square is applied to ABO-like data in which there are no observed double blanks in either the disease or the control group. When the recessive gene frequency is assumed zero, this method leads to an approximate chi-square test identical to that suggested by Smouse and Williams (1982, Biometrics 38, 757-768). When this assumption is relaxed, there arise two cases which are determined by whether the maximum likelihood estimate of this frequency is zero or not. It is shown that the value of the simple score statistic of Gart and Nam (1984, Biometrics 40, 887-894) discriminates between the two cases. The various omnibus test statistics for comparing groups are shown to differ little in several practical examples. However, under the more general assumption the appropriate degrees of freedom is one more than the number previously suggested.

ABO Blood-Group System↗

PubMed1977

The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?

Profound iduronate sulfatase deficiency, characteristic of the Hunter syndrome, has been found in cultured fibroblasts, serum, lymphocytes, and tissues of two clinically affected girls. The patients are karyotypically normal and have normal fathers; cloning of the mothers' fibroblasts did not reveal the mosaicism expected of carriers of an X-linked disease. Homozygosity for a previously unsuspected autosomal recessive gene for iduronate sulfatase is considered the most likely explanation, although heterozygosity for the X-linked gene and subsequent selection cannot be completely excluded.

Child↗

PubMed1974

Heredity and human cancer.

The dominantly inherited tumors of man demonstrate that mutation can be a step on the carcinogenetic pathway. Nonhereditary tumors may involve the same mutation in somatic cells rather than germ cells. In neither case is this mutation alone sufficient to produce a tumor, and evidence is presented that a second mutational step is required in the initiation process. Individuals who bear these mutations germinally are extremely susceptible to specific tumors, they may develop more than one tumor, and the average age at onset is earlier than usual. Recessive genes for cancer susceptibility and environmental carcinogens may interact with each other and with these dominant "cancer genes" to increase the probability that cancer mutations will occur.

Age Factors↗

PubMed1979

Three variations of hairlessness associated with albinism in the laboratory rat.

The relationship of three variants of hairlessness, or hypotrichosis, in laboratory rats were examined morphologically, genetically and histologically. The results indicated that the recessive gene causing the fuzzy characteristic in Wistar Furth rats and genes responsible for two other hypotrichotic coat variants in albino rats were the same gene or closely linked genes. The genes were in Linkage Group I of the Norway rat and were closely associated with the albino gene (c), with a recombination percentage of approximately 18%. The hypotrichotic animals had fewer and smaller hair follicles, smaller hair shafts, and a reduction of medullated hair shafts.

Albinism↗

PubMed1971

X-linked cleft palate.

Cleft lip with or without cleft palate is twice as frequent among Indians of British Columbia as among non-Indians, although the reverse is the case whenever we consider isolated cleft palate. A family is described with 12 affected males. Close examination of this family revealed that the most likely explanation for the cleft palate was an X-linked recessive gene. It is concluded that isolated cleft palate among the Indians of British Columbia is an extremely rare anomaly.

Chromosome Aberrations↗

PubMed1971

Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness.

A four-year-old Caucasian male with well-documented renal tubular acidosis, first noted in early infancy, was found to have profound hearing loss causing delayed speech development. The parents were first cousins, and three male half-sibs, each by a different father, were not affected. The findings suggest that the syndrome of renal tubular acidosis with deafness is a distinct nosologic entity that is determined by an autosomal recessive gene.

Acidosis, Renal Tubular↗

PubMed1970

Inheritance of resistance to fenthion in Culex pipiens fatigans Wied.

The insecticide fenthion, which shows great promise for controlling the filariasis vector Culex pipiens fatigans, has been found in the laboratory to induce a certain amount of resistance. As the biochemical nature of fenthion resistance was known to be due to an increase in a particular esterase activity, the inheritance of the character was investigated in the present study. It was found to be mainly due to a single slightly recessive gene associated with linkage-group 2, and the increase in detoxifying esterase activity showed a similar inheritance.

Animals↗

PubMed1977

More evidence for the recessive inheritance of selective adult type lactose malabsorption.

Selective adult type lactose malabsorption appears in childhood or adolescence because of the great decline in jejunal lactase activity. There is strong evidence that this is a genetically determined disorder. Specifically, selective adult type lactose malabsorptions seem to be inherited by a single autosomal recessive gene. In the present prospective study the transition from the state of lactose absorption to that of lactose malabsorption was documented for the first time in two Finnish boys who were at risk for selective adult type lactose malabsorption because the parents of both boys had the disorder. At the age of 14 and 9 years, respectively, the boys had normal lactose absorption. Three years and 7 months and 4 years and 5 months later, respectively, the boys were shown to have lactose malabsorption. The period of documented transition averaged less than 4 years. These manifestations clearly strengthen the genetic model proposed.

Adolescent↗

PubMed1984

[Papillon-Lefèvre syndrome. Presentation of a case].

The authors report a case of hyperkeratosis palmoplantaris with periodontosis (Papillon-Lefèvre syndrome) in a five year old male patient. This patient showed hyperkeratosis over palms, soles, knees and premature periodontoclasia. No other abnormalities were detected on physical examination and the personal and familial antecedents were negative. There is no history of consanguinity of his parents. Roentgenographic examination of his skull did not reveal ectopic calcification of the falk cerebri or tentorium. The skin biopsy of the lesions exhibit marked hyperkeratosis, acantosis and a moderate perivascular infiltrate composed mainly of mononuclears, localized in the upper dermis. The corium showed a mild atrophy. We assumed that this case resulted from homozygosity for autosomal recessive genes. Considering this is the first case detected in Panama with a population near two millions habitant, it supports the low frequency of the disorder, estimated roughly at one to four per million persons in the general population, according Gorlin et al.

Calcinosis↗

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↗

PubMed1983

[Effect of the transfer of F1 plasmids of various lengths on Shigella sonnei virulence].

The influence of F' plasmids of different length, carrying the genetically characterized Escherichia coli K-12 chromosomal regions, on the virulence of S. sonnei has been studied. The study has revealed that in S. sonnei (in contrast to S. flexneri) the chromosome carries a recessive gene located in the area of the lactose operon; this gene is essential for the capacity of bacteria for causing keratoconjunctivitis, which has been proved by the transfer of F' plasmids of different length. The above gene is functionally independent of the influence of the F factor as such, as the transconjugants which receive the so-called "intermediate" plasmids carrying the E. coli K-12 chromosomal genes from lac I to tsx retain their virulence. The above gene (or genes) on the chromosome of S. sonnei has been localized to the left of the gene lac I.

Chromosomes, Bacterial↗

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↗