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Results for “Genes, Recessive”

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PubMed1981

The indicence of severe pre-eclampsia amongst mothers and mothers-in-law of pre-eclamptics and controls.

In order to distinguish between a maternal, fetal or maternal and fetal genetic predisposition towards severe pre-eclampsia, the first pregnancies of 158 mothers and 160 mothers-in-law of pre-eclamptic women and of matched controls were analysed. Fourteen per cent of mothers of pre-eclamptics were found to have had severe pre-eclampsia, confirming previous suggestions that the condition "runs in families', in contrast to only a 3% incidence amongst mothers of controls. The incidence in mothers-in-law of both pre-eclamptics and controls was 4%, in full agreement with a maternal genotype hypothesis and suggesting that the fetal genotype plays, at most, only a minor role in the aetiology of severe pre-eclampsia. The data are in agreement with the hypothesis that a single recessive gene acting in the mother could be responsible for severe pre-eclampsia, but multifactorial inheritance is not ruled out. Mild pre-eclampsia showed no such familial tendency, indicating that the mild and severe forms of pre-eclampsia may represent separate pathological entities.

Female↗

PubMed1998

NER rat strain: a new type of genetic model in epilepsy research.

PURPOSE: We characterized and evaluated as an animal model of epilepsy NER, a new epileptic rat strain, which was developed by inbreeding rats with spontaneous tonic-clonic seizures in a stock of Crj:Wistar. METHODS: Animals were monitored through the inbreeding course, and video-EEGs were recorded selectively. External seizure-provoking stimuli were applied to NER and to a control parental strain. F1, F2, and backcross progenies were produced between NER and a nonepileptic unrelated strain. Pathologic study included hematoxylin-and-eosin (HE), Klüver-Barrera's, modified Bodian silver, and neo-Timm's staining. RESULTS: After the F9 generation, 94%-98% of NER exhibited spontaneous tonic-clonic convulsions, beginning with neck and forelimb clonus, wild jumping/running, opisthotonic posturing, and evolving to tonic, then clonic convulsion, followed by postictal flaccidity. Most seizure onsets occurred between 2-4 months of age, and the incidence was 0.45 +/- 0.21 seizures in 12 h. Ictal cortical and hippocampal EEGs were characterized by high-voltage spikes followed by diffuse spike-and-wave or polyspike-and-wave complexes. NER revealed seizure susceptibility to pentylenetetrazol, tossing, and transcorneal electroshock, but not to tactile, photic, or acoustic stimuli, or to transauricular electroshock. Mating experiments revealed that 0% (0/46) of the animals in F1, 25.5% (13/51) in F2, and 63.6% (56/88) in backcross progenies exhibited spontaneous tonic-clonic convulsions without sex difference. For all these epileptic traits, no pathologic changes were demonstrated in the CNS. CONCLUSIONS: NER frequently exhibited spontaneous convulsions, controlled by a major autosomal recessive gene for epilepsy, that are comparable to generalized tonic-clonic seizures in humans. This can serve as a new genetic model in epilepsy research.

Animals↗

PubMedDate not supplied

Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity?

Instability of the centromeric region of chromosome 1, and multibranched configurations formed by the short and long arms were seen in a brother and sister with facial dysmorphism, mental retardation and recurrent infections. No chromosomal abnormalities were seen in the parents, who were first cousins. The fragility of chromosome 1 was identified in amniotic fluid cells of the sister. A combined immunodeficiency characterized by a lack of immunoglobulin production, low numbers of T cells and a lack of cells with NK cell markers was diagnosed. This is the first report of familial occurrence of this unique chromosomal aberration. The cause may be an autosomal recessive gene defect.

Centromere↗

PubMed2003

Defective balancing ability and hyperactivity in the CLX (circling behavior linked to the X-chromosome) mutant rat.

We have reported that the recently described circling behavior rat (CLX) is a hereditary mutant controlled by a single sex-linked recessive gene (gene symbol: clx). This mutant shows intermittent circle walking and/or running and head tossing with the neck twisted. The abnormal behavior begins to appear around weaning and continues throughout life. In the present study, behavioral tests were performed during the suckling and post-weaning periods and when the rats reached maturity, and the following peculiar abnormalities were revealed: (1) in the righting reflex test, the CLX young show a tendency to take a longer time to revert to normal posture; (2) in the negative geotaxis test, they had difficulty moving upward at 12 days of age; (3) in the air righting reflex test, they frequently fell on their backs or shoulders even after weaning; (4) almost none of the CLX rats showed nystagmus, which is invariably observed in normal rats after rotating stimulation, at 20 weeks of age; and (5) they showed hyperactivity in the open field test at the age of 5 or 6 weeks and a higher degree of locomotor activity in the home cage at the age of 7 and 15 weeks. These results suggest that CLX mutant rats may have some defect in vestibular function (balance sense) or abnormalities in an area of the central nervous system responsible for posture control, e.g., in the dopaminergic or GABAergic neurons.

Animals↗

PubMed1975

Cerebellar hypoplasia of genetic origin in calves.

Within 2 years, following the introduction of 2 Shorthorn bulls from the same stud into an Australian Illawarra Shorthorn (AIS) herd, 16 calves were born with cerebellar hypoplasia. All affected calves were the progeny of one bull mated to the daughters of the other. All other progeny of these bulls, most of which were from AIS dams, were normal. Affected calves exhibited severe ataxia, consistent head movement and abduction of the forelimbs. Microscopic changes in the cerebellum included sparsity of cells of the granular layer, loss of Purkinje cells and narrowing of the molecular layer. Observations on the frequencies of normal and abnormal calves are consistent with the hypothesis that the condition is caused by an autosomal recessive gene for which affected calves were homozygous and which was introduced into the herd in heterozygous condition by both of the Shorthorn bulls. Evidence is given for an unusually high frequency of the gene in the stud of origin of the Shorthorn bulls and a procedure for reducing its frequency is outlined. The possibility of a viral or toxic aetiology is discussed but is considered to be an unlikely explanation for the condition in this herd.

Animals↗

PubMed1980

Arthrogryposis: an inherited defect in newborn calves.

Arthrogryposis, frequently associated with cleft palate, scoliosis and kyphosis, has been investigated in pure and crossbred Charolais calves. During a 3-year study, a total of 76 congenitally malformed arthrogrypotic calves from 41 purebred and commercial Charolais herds was investigated. Investigations of the management, feeds, water and poisonous pasture plants in 6 herds reporting deformed calves did not reveal any factors which could be associated with the appearance of the defect. Analysis of pedigrees and matings which produced arthrogrypotic calves revealed that the arthrogryposis syndrome in the Charolais breed and its crosses in Canada is genetic in origin and caused by an autosomal recessive gene with complete penetrance in the homozygous state.

Animals↗

PubMed1967

Biochemical genetics of oxidative phosphorylation.

The usefulness of mutants in the unraveling of complex, highly organized, membrane-bound processes such as oxidative phosphorylation is illustrated by a study of a single recessive gene mutation in yeast, designated op(1), which has abolished the efficiency in vivo and in vitro of oxidative phosphorylation without impairing the electron transfer.

Adenosine Triphosphatases↗

PubMed1984

Autoimmunity and increased c-myb transcription.

A single recessive gene, lpr, induces an autoimmune-lymphoproliferative syndrome in several strains of mice. The lymphoid organs of lpr/lpr mice contained cells with increased amounts of myb RNA, which codes for a protein found in the nucleus. A similar human lymphoproliferative disorder also had an increase in c-myb expression. Mouse T cells induced by mitogens to proliferate did not express large amounts of myb RNA, indicating that marked myb expression is not a general feature of lymphocyte activation and proliferation.

Animals↗

PubMed1967

Two loci controlling genetic cellular resistance to avian leukosis-sarcoma viruses.

Female chickens known to be heterozygous for resistance to subgroups A and B of the avian leukosis-sarcoma viruses were mated to males known to be homozygously resistant to both. The progeny were assayed both on the chorioallantoic membrane (CAM) and in tissue culture for resistance to representative viruses of the A, B, and tentatively defined C subgroups. Segregation ratios of resistance to A and B subgroup viruses agreed with the previously suggested hypothesis of single-autosomal-recessive genes controlling resistance to each subgroup. Mixed infection on the CAM and replicate plate infection in tissue culture with subgroup A and B viruses showed that resistance to the A and B subgroups was inherited independently. Assays with viruses tentatively classified as subgroup C indicated that they were largely composed of a mixture of subgroup A and B viruses or of particles possessing the host range specificity of both. However, virus stocks of the subgroup C category, as well as some stocks classified as subgroup B, produced small numbers of pocks or foci on individuals known to be resistant to subgroup A and B viruses. It is suggested that these Rous sarcoma virus stocks carry between 1 and 10% of a true subgroup C virus.

Alpharetrovirus↗

PubMed1996

Suppression of long-distance movement of tobacco etch virus in a nonsusceptible host.

To investigate host functions involved in the tobacco etch potyvirus (TEV) infection process, a tobacco line (V20) with a strain-specific defect in supporting systemic infection was analyzed. Using a modified TEV encoding a reporter protein, beta-glucuronidase (GUS), genome amplification, cell-to-cell movement, and long-distance movement were measured in V20 and a susceptible line, Havana425. Comparable levels of TEV-GUS genome amplification were measured in inoculated protoplasts from both tobacco lines. The rates of cell-to-cell movement of virus in inoculated leaves were nearly identical in V20 and Havana425 between 48 and 72 h postinoculation. In contrast, long-distance movement from leaf to leaf was markedly restricted in V20 relative to Havana425. In situ histochemical analysis of inoculated leaves revealed that infection foci expanded radially over time, providing the potential for contact of virus with veins. Immunocytochemical analysis of V20 tissue from infection foci indicated that TEV-GUS entered the phloem parenchyma or companion cells adjacent to the sieve elements, suggesting that the block in long-distance movement was associated with entry into, or exit from, sieve elements. The genetic basis for the V20 restriction was characterized in a segregation analysis of a cross between V20 and Havana425. The heterozygous F1 progeny displayed the susceptible phenotype, indicating that the V20 restriction was a recessive trait. Segregation in the F2 progeny indicated that the restriction was likely due to the interaction of recessive genes at two nonlinked loci. These data support the hypothesis that long-distance movement requires a set of host functions that are distinct from those involved in cell-to-cell movement.

Genes, Plant↗

PubMed1975

Prenatal diagnosis of a neural tube defect: Meckel syndrome.

A severe neural tube defect diagnosed in a 191/2-week-old "at risk" fetus on the evidence of a markedly elevated alpha-fetoprotein level in the amniotic fluid, turned out to be an occipital myelocoele. However, the fetus also had polycystic kidneys and postaxial hexadactyly on all extremities. The karyotype was normal. These are the features of the rare Meckel syndrome, caused by a pleiotropic, autosomal, recessive gene, and one and possibly two other sibs were also affected.

Abnormalities, Multiple↗

PubMed1984

Orofaciodigital syndrome with mesomelic limb shortening.

Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia. Homozygosity for a recessive gene defect is probable. The phenotype resembles, but is distinct from, the orofaciodigital syndromes delineated to date. We suggest that this condition be labelled OFD IV.

Abnormalities, Multiple↗

PubMed1987

Ectrodactyly in sisters and half sisters.

An extended family is described in which four sisters and half sisters presented with ectrodactyly. Two of the sisters had associated agenesis of the tibiae. The paper describes the malformations and discusses the management and possible genetic inheritance involved. An autosomal recessive gene seems likely to be the mode of inheritance.

Abnormalities, Multiple↗

PubMed1988

Oculotrichodysplasia (OTD): a new probably autosomal recessive condition.

A brother and sister, the offspring of first cousins, are described with retinitis pigmentosa, trichodysplasia (hypotrichosis and structural changes), dental anomalies, and onychodysplasia. This is a pure ectodermal dysplasia of the tricho-odonto-onychial subgroup, probably due to an autosomal recessive gene.

Adolescent↗

PubMed1992

Effects of genetic screening on perceptions of health: a pilot study.

The aim of the current study was to determine how carriers of a recessive gene, which confers no risk to their own health, perceive their health, relative to non-carriers. Perceptions of health in three groups were compared: those screened and found to carry the gene for Tay-Sachs disease, those screened and not found to carry the gene for Tay-Sachs disease, and a community based sample who, it was presumed, had not undergone screening. The groups did not differ in their perceptions of their current health or their past health. Carriers, however, viewed their future health with less optimism than the other two groups. The causes and consequences of this altered perception need to be explored in future studies. With the advent of population based screening for cystic fibrosis carrier status, these results highlight the importance of assessing in detail people's experiences of screening before the introduction of any mass genetic screening programmes.

Adult↗

PubMed1996

Odontomicronychial ectodermal dysplasia.

This paper describes odontomicronychial dysplasia, a pure ectodermal dysplasia of the 2-3 subgroup of group A. It is characterised by precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. This condition probably results from an autosomal recessive gene.

Adult↗

PubMed1992

Inheritance of 'overshot' malocclusion in German shorthaired pointers.

An abnormality of jaw development in the German shorthaired pointer which results in severe overshot is described. Its frequency of occurrence in a kennel where only phenotypically normal breeding stock were used was six/100 pups alive at three weeks. The abnormality was inherited in a manner consistent with the influence of a single autosomal recessive gene. The penetrance of the gene could possibly be masked in populations in which undershot jaw occurs.

Animals↗

PubMed1996

Canine epilepsy: a genetic counselling programme for keeshonds.

The predisposition of keeshonds (Dutch barge dogs) to an idiopathic epilepsy appears to be determined by a single autosomal recessive gene. The pedigrees of 15 litters which included animals diagnosed as epileptic ('fitters') were compared with those of 34 contemporary, normal animals. The pedigrees of all the fitters traced back, on both the paternal and maternal sides, to a common ancestor. Subsequently, further pedigrees and details of litters were gathered. If both parents of a fitter were heterozygous ('carriers'), the progeny (120 in number) of all known carrier x carrier matings would be expected to have a ratio of three phenotypically normal animals to one fitter, that is, 90:30. The ratio observed (91:29) was not significantly different. The Keeshond Club has published a list from which the identities of carriers can be inferred, with the intention that known carriers should be excluded from breeding. A genetic counselling programme has been in operation since 1989, which is based on advising breeders on the probability that the offspring of proposed matings would be fitters or carriers; advice has been given on 77 proposed matings. The mean probability that the proposed matings would result in carriers has declined significantly, and this is consistent with a decline in the frequency of the gene for this form of epilepsy in the breed.

Animals↗