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PubMed1986

Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms.

A search for the defective gene causing torsion dystonia has been carried out in a family manifesting an autosomal dominant mode of inheritance of this movement disorder. Complete neurologic examination and establishment of lymphoblast lines have been carried out for over 50 members. Linkage analysis, using cloned DNA sequences and restriction fragment length polymorphisms, was evaluated by the LOD score method with requisite assumptions for mode of inheritance, age-of-onset and incomplete gene penetrance. Genes for pro-opiomelanocortin and glutamic acid decarboxylase, which have been implicated in the etiology of the disease in rat models, were excluded as being responsible for the disease state in this family. Other regions of the genome were also excluded using DNA probes for other genes and random "unique" sequences.

Adolescent↗
PubMed1996

Inherited breast carcinoma--prospective findings in 1,194 women at risk.

According to preset criteria, 1,194 women at risk for inherited breast carcinoma were selected and subjected to examination. Six hundred and three women were examined once, 591 were followed for a mean of 1.8 years. Twenty infiltrating cancers (median age 49 years) and 16 precancers (median age 44 years) were found, demonstrating that breast carcinoma continued to occur in the selected families as expected under the hypothesis of dominant inheritance. At first round, 14 (1.2%) infiltrating carcinomas and a total of 22 (1.8%) cancers or precancers were found. Incidence rates of 0.58% pr. year for infiltrating cancers, and 1.04% pr. year for cancer or precancer were calculated. This confirms the tentative conclusions that were drawn in our previous report. These are the first prospective reports documenting how to delineate a high risk group for premenopausal breast cancer, and how to diagnose cancer at an early stage. All but two affected women had cancer without lymph node metastasis. Although a longer observation time is needed, we cautiously conclude that the results are in keeping with our aim of providing safety for those at risk. Clinical use of predictive genetic testing may be implemented within these families.

Adult↗
PubMed1989

Strain difference and mode of inheritance of the susceptibility to passive cutaneous anaphylaxis mediated by allogeneic IgE antibody in the mouse.

The strain difference and mode of inheritance of the susceptibility to PCA (passive cutaneous anaphylaxis) were studied in mice. No marked strain differences were found in the susceptibility to PCA mediated by allogeneic IgG1 monoclonal and xenogeneic IgG antibodies, although BALB/c Crj mice were somewhat less susceptible than the other strains. On the other hand, the susceptibility to PCA mediated by allogeneic IgE monoclonal antibodies differed greatly according to the strain; SJL/J, A.SW/J and DS/Shi mice being highly susceptible and C57BL/6JShi, BALB/cCrj, DBA/2Crj, C3H/HeShi and CBA/JNCrj mice insusceptible. Based on the marked difference between DS/Shi and C3H/HeShi strains, the mode of inheritance of the susceptibility to IgE PCA was studied using their F1, F2 and F1 x parent backcross offspring. All the F1 hybrids by reciprocal crosses between these two strains and F1 x DS backcross mice were highly susceptible like DS/Shi mice. Backcross mice between F1 and C3H/HeShi showed approximately 1:1 segregation into the susceptible and insusceptible. Segregation was also observed in the F2 generation; 32% being insusceptible. These results suggest that the high susceptibility is a dominant phenotype controlled mainly by a single gene on an autosomal chromosome; this was statistically supported by tests of the segregation ratios obtained. However, in the PCA-positive recipients of F1 x C3H backcross and F2 generations, dye leakage into the skin was tended to be diffuse and less compact than in DS/Shi, F1 and F1 x DS backcross mice. This suggests the presence of some additional genes which modify the expression of the main gene.

Animals↗
PubMed1987

Rare factor VII variant inherited through genetic variant in proband's mother and another genetic variant in proband's father.

An 11-year-old girl with hereditary factor-VII deficiency and her family have been studied for factor VII coagulation activity (VII:C) and factor VII antigen level (VII:Ag). The proband had 11% VII:C, whereas her VII:Ag was at a level that corresponds to about 50% coagulation activity. Forty-two members of the proband's family were tested. This study disclosed that the proband's factor VII deficiency had been inherited through both her mother and her father. Although her father was dead, testing of her father's family showed a factor VII defect of the type VII+ variant, that is, normal production of VII:Ag but reduced VII:C. The maternal side of her family was found to have reduced but identical levels of VII:C and VII:Ag (variant VIIR). The proband's factor VII deficiency is therefore apparently inherited through two different variants, and that could explain this rare genetic type of factor VII deficiency. To our knowledge no such variant has ever been described.

Antigens↗
PubMed1984

Inherited snowflake cataracts.

The authors report two unusual pedigrees of flake-like cataracts inherited as an isolated mendelian trait, presumably autosomal dominant. The most striking biomicroscopic feature is an accumulation of large white irregular flakes ('type B opacities') scattered throughout the equatorial cortex, with apparently less involvement of the nucleus. Some of these opacities are globular, but most are flattened and have feathery edges. These type B opacities are clinically and microscopically identical in the two families. Type B lesions are characterized histologically by irregular pale-staining areas. Ultrastructurally, these areas show large collections of microglobular degeneration immediately adjacent to normal-appearing lens fibers. Electron probe studies demonstrate normal calcium levels. 'Type A' opacities are biomicroscopically smaller, punctate, and clinically non-specific. Ultrastructurally, type A opacities include clusters of medium sized lenticular globules, each of which is larger than the individual microglobular abnormalities of type B lesions, although the aggregated type B lesion is considerably larger than an individual type A lesion. The microscopic appearance of this inherited cataract appears to be unique.

Adult↗
PubMed1992

Update of sporadic microphthalmos and coloboma. Non-inherited anomalies.

The majority of patients with microphthalmos and colobomas have genetic disorders. This is a survey of non-inherited, sporadic microphthalmos. Such cases may occur in the Goldenhar, CHARGE and VATER associations; it may also be due to teratological agents, for instance maternal ingestion of drugs, maternal infection, fever or irradiation. In these cases it is possible that neural crest cell development is abnormal. Some drugs, for instance retinoic acid are regulators of Hox genes which control an ordered sequence of differentiation; coloboma or microphthalmos may appear if deregulation occurs. Large choristomas of the anterior segment of the eye may be associated with microphthalmos or anophthalmos. Encephaloceles or orbital tumours may deform the growing eye and are another cause of non-inherited microphthalmos.

Abnormalities, Drug-Induced↗
PubMed1996

The problem of overlapping glaucoma families in the Glaucoma Inheritance Study in Tasmania (GIST).

The Glaucoma Inheritance Study in Tasmania (GIST) is a population survey of Australia's island state, Tasmania (population 450,000). Its aim is to find families with autosomal dominant, adult-onset, primary open angle glaucoma (POAG) suitable for genetic linkage analysis. POAG is relatively common, affecting around 3% of the Australian population. By finding the large families with POAG and identifying all the descendants in a captive population, it is possible that there may be overlap of different glaucoma pedigrees. Three of the first thirteen families in the study were composed of overlapping pedigrees. In one GIST family, GTas3, there has been intermarriage with other pedigrees with glaucoma on five occasions. The possibility of multiple genotypes was also reinforced by the inability to determine a single glaucoma phenotype in this family. When finding large families of POAG for linkage analysis, researchers must be aware of the risk of affected individuals inheriting their gene from the alternate parent. Thus, the alternate parents or their families must be examined, especially if the phenotype is atypical for the rest of the family.

Adult↗
PubMed1995

Visualization of inheritance patterns from graphic representation of additive and dominance relationships between animals.

Evaluation of pedigrees of normal and affected individuals help to suggest possible patterns of inheritance. Because large numbers of individuals are involved in studies of genetic disease, classic two-dimensional family tree charts are difficult to draw. Instead, DFA plots of graduated circles, weighted by dominance relationships, inbreeding, and additive relationships between individuals can be plotted above, on, and below the diagonal. Base animals without phenotypic measurements contribute information for computation of approximate dominance relationship, inbreeding, and additive relationships, but are not explicitly in the graph. Plotting only a set of randomly selected animals for each combination of phenotypes improves the visualization effect, especially when pedigrees are large or when computer resources are limited. For deficiency of uridine monophosphate synthase and interdigital hyperplasia, DFA plots showed higher densities of additive and dominance relationships among affected animals. However, DFA plots did not show clear patterns of inheritance for heel erosion, laminitis, or sole ulcers because environmental effects were important for those traits. Grouped graduated circles also improved visualization. The function of DFA plots is comparable with statistical scatter plots that display data to help examine statistical approaches. The DFA plots serve as a first approach to evaluate genetic hypotheses before a more complex model is fit.

Animals↗
PubMed1990

Developmental and maturational aspects of inherited avian myopathies.

Three inherited abnormalities of muscle growth of poultry are an inherited muscular dystrophy of the chicken, deep pectoral myopathy of turkeys and broilers, and focal myopathy of turkeys. The major features of each are described and compared. Cellular and molecular bases of dystrophy of the chicken and treatments to alleviate the disorder are discussed. The pathologic progression and anatomical basis for deep pectoral myopathy are presented. Evidence is given that focal myopathy of the turkey is a growth-dependent disorder. The implications of the idea that such disorders are partly consequences of selection are discussed in the context of the future needs of a poultry industry emphasizing processing of poultry meat.

Animals↗
PubMed2003

Inherited vitamin K deficiency: case report and review of literature.

Vitamin K is the cofactor for the hepatic carboxylation of glutamic acid residues in a number of proteins including the procoagulants factors II, VII, IX, and X. The role of vitamin K in normal bone function is not fully understood. Inherited deficiency of vitamin K dependent coagulation factors is a rare bleeding disorder reported only in a few patients. Here we present an 18-month old child who presented with osteopeni due to inherited vitamin K deficiency. While the patient had high bone specific alkaline phosphatase and parathyroid hormone levels and low osteocalcin and bone mineral density values, with the regular supplementation of vitamin K all the mentioned parameters returned to normal values.

Bone Density↗
PubMed1986

Inheritance of traits associated with sexual maturity when populations of chickens reach 50% lay.

In order to study the mode of inheritance of traits associated with the onset of sexual maturity, data from stocks differing greatly in genetic background were analyzed when populations achieved 50% lay. Chickens used in this experiment consisted of three parental lines and five crosses. Parental lines were White Plymouth Rocks bidirectionally selected for high (HH) and low (LL) 56-day body weight, and a closed population of Jersey Black Giants (JJ). Crosses were produced from reciprocal matings of the White Rock lines (HL and LH), their F2 (HL X HL), and Jersey males mated to weight-line females (JH, JL). When 50% of the pullets within a population had laid, various traits were measured for each individual in that population. Retrospective analyses showed that sexually mature pullets were heavier at 91 and 126 days of age than those which had not commenced lay. Body weight dimorphism between layers and nonlayers was disproportionately greater in LL and F2 pullets than in those of other populations, resulting in a population by physiological stage interaction. Fat depots were heavier and percentages of fat were higher in laying than nonlaying pullets. Evidence was obtained suggesting that an absolute quantity of breast tissue was necessary before lean tissue percentage became meaningful as a threshold trait for the onset of egg production. Modes of inheritance for body weight and compositional characteristics were different in sexually immature and mature pullets, suggesting that muscle functioned as a nutrient reserve in laying pullets and a nutrient store in those that had not reached this physiological stage.

Aging↗
PubMed1992

Inheritance of antibody response to sheep erythrocytes in lines of chickens divergently selected for fifty-six-day body weight and their crosses.

Experiments were conducted to determine the principal mode of inheritance for antibody response to SRBC in selected populations of chickens and their crosses. Additive genetic variation was important in the inheritance of both primary and secondary responses to this antigen. Reciprocal differences and heterosis also influenced the secondary response. Kinetics of primary and secondary antibody responses were evaluated in pairs of lines divergently selected for high (HW) or low (LW) juvenile body weight and high (HA) or low (LA) response to SRBC antigen. Different groups of chickens were sampled on Days 3 to 7, 10, 14, 24, 26, 28, and 31 postprimary inoculation (PPI). Half of the chickens sampled after Day 14 received an additional injection of SRBC antigen. Plasma from each individual was examined for total, mercaptoethanol-resistant, and mercaptoethanol-sensitive titers. Antibody titers PPI to SRBC were consistently highest in Line HA and lowest in Line LA. Lines HW and LW reacted similarly to Line LA early in response, but showed higher levels later. In both primary and secondary responses, the weight lines peaked at similar levels. Thereafter, Line LW maintained a higher antibody titer level to SRBC antigen than Line HW.

Animals↗
PubMed1994

Nucleolar size polymorphisms in commercial layer chickens; determination of incidence, inheritance, and nucleolar sizes.

In the chicken, one chromosome pair encodes the ribosomal (r)RNA genes and two nucleoli are formed in interphase cells. The nucleolus is the site of rRNA synthesis and ribosome biogenesis. Nucleolar size polymorphisms have been detected in research strains of chickens and found to represent heterozygosity for rRNA gene copy number. The objectives of the present study were to determine whether nucleolar size polymorphisms exist in commercial chicken flocks and whether such polymorphisms are under genetic control. The occurrence of nucleolar size polymorphisms was studied in three lines of commercial layer chickens (designated A, B, and C). Nucleolar size polymorphisms were found in all three lines. However, the lines differed in the proportion of individuals exhibiting the polymorphic phenotype of two unequal-sized nucleoli (2P). The 2P phenotype, determined in successive years, was found in 10 to 14% of Line A birds, 18 to 23% of Line B birds, and 41 to 63% of Line C birds. The inheritance pattern of the nucleolar size polymorphism and nucleoli sizes were studied in Line C birds. The 2P phenotype was found to be inherited in Mendelian fashion. The large nucleolus was 1.7x and 1.6x that of the smaller nucleolus in 2P males and females, respectively, and was larger than the nucleoli of 2E birds (2E = nonpolymorphic phenotype of two equal-sized nucleoli). Total nucleolar size was greater in cells of 2P birds than in cells of 2E birds. These data suggest that the genetic basis for the large nucleolus in Line C 2P cells is a "larger than normal" rDNA cluster.

Animals↗
PubMed2026

Inherited Platelet GPIV Deficiency: First Description of a Series of Unrelated Patients with Bleeding Diathesis.

GPIV (CD36) is a multifunctional membrane protein expressed on various cells, including platelets, where it plays a role in adhesion and activation through the interaction with its ligands, including collagen types I and III and thrombospondin 1. Inherited GPIV deficiency, historically recognized in anti-Naka alloimmunized East Asian donors, is considered asymptomatic and associated with normal platelet aggregation, although impaired adhesion under high-flow conditions has been reported. Here, we reconsider the molecular basis, epidemiology and functional consequences of GPIV deficiency and report four unrelated patients in whom heterozygous CD36 variants are associated with markedly reduced platelet GPIV expression and a clinically relevant mucocutaneous bleeding diathesis. Patients suffered lifelong bleeding symptoms despite normal light-transmission aggregometry and platelet granule content and release and displayed decreased GPIV expression. Three of them showed slightly decreased VWF. Platelet adhesion to Type I collagen was reduced at high shear. These cases suggest for the first time an association between CD36 gene variants and bleeding and underscore the importance of including GPIV in the diagnostic workup of inherited platelet disorders, particularly when conventional assays do not reveal abnormalities.

Humans↗
PubMed2000

Genetics beyond Mendel. Understanding nontraditional inheritance patterns.

Many medical conditions that clearly have a strong genetic component are not transmitted in a straightforward dominant, recessive, or X-linked pattern. Recent progress in understanding other modes of inheritance, such as imprinting, trinucleotide repeat expansion, mitochondrial inheritance, and mosaicism, has allowed us to solve many of these hereditary puzzles. Such advances have led to improvements in diagnosis and genetic counseling for patients affected with these disorders and should be valuable in development of effective therapies for some of these disorders in the future.

Angelman Syndrome↗
PubMed1998

The feasibility of replacement therapy for inherited disorder of glycolysis: triosephosphate isomerase deficiency (review).

Triosephosphate isomerase (TPI, EC 5.3.1.1) is an ubiquitously expressed enzyme that catalyses the interconversion of dihydroxyacetone phosphate (DHAP) and glyceraldehyde-3-phosphate in the energy-generating glycolytic pathway. Inherited defects in the TPI gene are characterised biochemically by markedly reduced TPI enzyme activity in all tissues resulting in metabolic block in glycolysis, with accumulating DHAP particularly in red cells. Clinical TPI deficiency is a rare autosomal recessive multi-system disorder characterised by non-spherocytic haemolytic anaemia, recurrent infections, cardiomyopathy, severe and fatal neuromuscular dysfunctions. Reviews of current literature show that after 30 years since TPI deficiency was first described, the disease still remains without effective therapy. However, several potential therapeutic strategies exist for the treatment of inherited metabolic disorders such as TPI deficiency. Development of an effective therapy for TPI deficiency presents a fascinating and formidable challenge for basic laboratory and clinical research. The major aim of this overview is to discuss the current knowledge of TPI deficiency with special emphasis on research efforts directed towards reversing the metabolic effects of the disorder.

Anemia, Hemolytic, Congenital Nonspherocytic↗
PubMedDate not supplied

Peters' anomaly: dominant inheritance in one pedigree and dextrocardia in another.

Two case reports are described to illustrate the unusual occurrence of dominant inheritance of Peters' anomaly and the concomitant occurrence of Peters' anomaly with colobomatous microphthalmos and dextrocardia. Studies of additional families are necessary to determine conclusively the pathogenesis, genetic mode of inheritance, ocular and systemic associated malformations, and proper management of this complex entity.

Abnormalities, Multiple↗
PubMedDate not supplied

Inherited retinal telangiectasia with glial proliferation.

We describe five patients from a family of Pakistani origin with inherited retinal telangiectasia and glial proliferation. Characteristics of this condition include: variable visual loss; peripapillary retinal telangiectasia with vascular incompetence on fluorescein angiography; glial proliferation; cystoid macular edema or altered macular pigment; retinal hemorrhage; and abnormal electroretinopathy. We discuss the similarities with and distinguishing features from other documented conditions and the mode of inheritance.

Adult↗