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PubMed1989

The genetics of Crohn disease: complex segregation analysis of a family study with 265 patients with Crohn disease and 5,387 relatives.

We have analysed the pedigrees of 265 probands with Crohn disease, collected from a specialty clinic at the University of Düsseldorf. Complex segregation analysis suggests the presence of a recessive gene with incomplete penetrance for susceptibility to the disease with no residual causes of family resemblance. However, a proportion of the isolated cases are probably due to phenocopies, this proportion being greatest among cases with an advanced age of onset.

Chromosome Mapping↗

PubMed1989

Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome)

We describe two families (including one previously reported) in which cerebellar or spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy result from abnormal function of an autosomal recessive gene. Review of the literature adds one other family with this disorder. These three examples confirm the existence of this traid as a specific, pleiotropic, single-gene syndrome. Careful ophthalmologic evaluation of patients with ataxia and hypogonadotropic hypogonadism may identify additional cases.

Adult↗

PubMed1990

Dandy-Walker variant malformation, spastic paraplegia, and mental retardation in two sibs.

Two sibs, a boy and a girl, had both hypoplasia of the cerebellar hemispheres and partial agenesis of the cerebellar vermis with normal communication between the fourth ventricle and arachnoid spaces, i.e., the manifestations of the Dandy-Walker variant malformation associated with agenesis of the corpus callosum. Both sibs were mentally retarded and had spastic paraplegia. The occurrence of a distinct and similar pattern of congenital anomalies in sibs born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene. Prenatal ultrasonographic diagnosis is possible at least for the more severe form of the brain anomalies.

Brain↗

PubMed1990

Tetralogy of Fallot in three sibs.

We report on three sibs (2 boys, one girl) with tetralogy of Fallot from non-consanguineous parents. The first child died during corrective surgery in 1972 from irreversible right ventricular failure. Corrective surgery was successful in the 2nd son and the daughter. The occurrence of tetralogy of Fallot in 3 sibs suggests a recessive gene.

Child↗

PubMed1975

The hypothenar radial arch, a genetically determined epidermal ridge configuration.

A radial arch in the hypothenar area of the human palm is an uncommon ridge arrangement. It is associated with an ulnar triradius and no axial triradius is present. The configuration generally occurs on right hands but is sometimes found on both hands. The frequency in the few European populations studied and in one Canadian sample varies from 0.2 per cent to over 2 per cent of persons. Hypothenar radial arches have also been reported in patients with abnormal sex chromosomes but are not specific to any karyotype. Two families are described in which nearly related persons have hypothenar radial arches. They provide the first evidence that the pattern is inherited. In one family three out of six sibs have radial arches in the hypothenar area and so have two out of three children of one of them. In the other family a pair of identical twins and their mother have hypothenar radial arches. It is suggested that, from the information available, inheritance is probably due to a recessive gene.

Canada↗

PubMed1987

Beta-glucuronidase activity is present in the microscopic epididymis of the Tfm/Y mouse.

The sex-linked recessive gene Tfm in the mouse produces a condition of testicular feminization (androgen insensitivity syndrome, AIS) in hemizygotes, comparable to the condition of the same name in humans. The murine mutant was originally believed to have no derivatives of the mesonephric duct system (MDS), and this absence was ascribed to dependence of these derivatives on androgens for survival. However, microscopical epididymides, retia testes, and vasa deferentia were identified in these animals in our laboratory. These micro-organs may play a role in meiosis induction in Tfm/Y animals. The present study was designed to determine whether survival of these organs is due to retention of an ability to respond to androgens, or whether they are unique amongst MDS derivatives in being independent of androgens. Previous studies in our laboratory demonstrated that the enzyme beta-glucuronidase (beta G) is androgen sensitive in the epididymis of the normal mouse. In the present investigation we used this enzyme as a marker to study androgen sensitivity in the microscopical epididymides of Tfm/Y hemizygotes and in the epididymides of control +/Y litter-mate brothers. Both mutant and control animals were studied with and without exogenous androgen stimulation. Tfm/Y hemizygotes demonstrated low levels of diffuse, cytoplasmic beta G activity that appears to be unresponsive to exogenous androgen stimulation. In light of our previous studies, this distribution of beta G reaction products suggests some degree of androgen sensitivity. The survival of these micro-organs and their partial androgen sensitivity may be related to the role of the MDS in inducing meiosis.

Androgen-Insensitivity Syndrome↗

PubMed1986

Studies on an isolated West Indies population: IV. Genetic study of hearing loss.

Hearing troubles were found to be very frequent among inhabitants of French origin in a small Caribbean island. Segregation analysis of hearing loss was performed in 165 complete nuclear families and revealed that familial aggregation could be entirely explained by a single recessive gene with high frequency (0.40). Homozygous individuals for this gene would probably be more susceptible to ototoxic agents than other individuals. High frequency of this gene may be due to a founder effect.

Audiometry↗

PubMed1975

Form and pattern in ciliated protozoa: analysis of a genic mutant with altered cell shape in Tetrahymena pyriformis, Syngen 1.

A single cell isolated from the sexual progeny of mutagenized parents gave rise to a clone of cells with an abnormal, conical shape. Breeding analysis revealed that this shape results from the action of a single recessive gene, co (conical). Homozygous mutant cells are shorter and wider than wild type cells, and have their widest point at a more posterior position. Nonetheless, cortical parameters such as number of ciliary rows, number of ciliary units within these rows, and positions of contractile vacuole pores remain essentially unchanged in conical cells, suggesting a considerable degree of mutual independence of pattern and form. Shape changes prior to cell division bring about some convergence in form of dividing conical and wild type cells. However, in conical cells the new oral apparatus and fission line form well posterior to the cell equator, so the opisthes are invariably smaller than proters. Macronuclei nonetheless undergo constriction at the normal central location, and the characteristic inequality in the DNA content of the two macronuclear division products is not increased by the conical condition. Generation times are, on the average, nearly the same in the two wild type daughter cells and in conical proters, while the small conical opisthes have generation times averaging one-third longer. This prolongation explains why population doubling times are always somewhat longer in cultures of conical cells than in parallel cultures of wild type cells. The unusually long generation times of conical opisthes allows for the compensation of initial size differences. Observations on shape changes in conjugating cells of various genotypic combinations suggest that the wild type gene product is not freely exchangeable across the conjugation bridge. The implications of the conical phenotype for problems of cellular patterning and positioning of organelle systems are considered in the discussion.

Alleles↗

PubMed1978

Nuclear transplantation in Bombina orientalis and utilization of the Pale mutation as a nuclear marker.

The discoglossid frog, Bombina orientalis, displays many characteristics that make it desirable as a laboratory animal. We report here the first successful transplantation of embryonic nuclei into enucleated eggs of this organism. The participation of the grafted nucleus in the development of the transplant embryos was confirmed with the use of a genetic marker, the Pale mutation. Frogs homozygous for this recessive gene are much lighter in appearance than the wild-type animals. The use of this trait in appropriate experiments demonstrated that nuclear transplantation in B. orientalis provides embryos whose nuclei may be reliably interpreted as being derived from the injected nucleus.

Animals↗

PubMed1979

Limbless: a new genetic mutant in the chick.

A mutation in the chicken resulting in total amelia is described. Genetic analysis indicates that the limbless condition is due to an autosomal recessive gene. In the limbless embryos the apical ectodermal ridge is lacking. However both the pectoral and pelvic girdles as well as the respiratory and excretory systems are normal. In the affected embryos usually the upper beak is shorter than the lower beak.

Animals↗

PubMed1976

Morphological and biochemical abnormalities in hearts of cardiac mutant salamanders (Ambystoma mexicanum).

The effect of homozygosity for recessive gene c in Ambystoma mexicanum is the absence of a heartbeat even though initially heart development appears normal. Mutant embryos (c/c) are first distinguishable from their normal siblings (+/+;+/c) at stage 34 (7 days after fertilization) when the normals develop contracting hearts. The mutant hearts at this stage, upon gross examination, appear structurally normal but fail to beat. Nevertheless, the mutants survive through stage 41, which is about 20 days beyond the heartbeat stage, and they exhibit normal swimming movements, indicating that gene c does not affect skeletal muscle. Electron microscopic studies of normal hearts show some myofibrils to be present at stage 34; by stage 41, the normal myocardial cells have become highly differentiated muscle cells. Although some mutant heart cells contain a few thin 60 A and thick 150 A filaments, organized myofibrils are absent. Instead, amorphous proteinaceous collections are prominent. Heavy meromyosin (HMM) binding experiments were performed on mutant hearts to determine whether the myocardial cells contain actin. Mutant myocardial cells that are glycerinated but not treated with HMM contain intact amorphous bodies. After incubation in HMM, the amorphous collections are no longer present and large numbers of decorated actin filaments appear. The.results suggest that the amorphous proteinaceous collections contain actin in a nonfilamentous form, and the addition of HMM induces this actin to polymerize into filaments. SDS-polyacrylamide gel electrophoresis of mutant heart tissue supports this conclusion by showing a prominent 43,000 dalton band suggestive of actin. The electrophoresis experiments also demonstrate a significant reduction of myosin heavy chain (200,000 daltons) in mutant hearts when compared to normal, and this latter observation is confirmed by radioimmunoassay experiments. Muscle tropomyosin (34,000 daltons), prominent in normal hearts, is virtually nonexistent in mutants. Thus, it appears that this single gene mutation affects the accumulation and organization of several different muscle proteins, including actin, myosin, and tropomyosin.

Actins↗

PubMed1975

Teratogenesis of acetazolamide in the CBA/J and SWV strains of mice. II. Genetic control of the teratogenic response.

Three independently segregating loci appear to control the difference in response of CBA and SWV mouse embryos to the ectrodactyly-inducing effect of acetazolamide. Response of the CBA embryo appears to depend on recessive genes for sensitivity being present in the homozygous condition at all 3 loci, and resistance to be conferred by the presence of a dominant allele at any one of the 3 loci. The genetic variability for the ectrodactyly response of the mouse is discussed in the light of the reported physiological factors necessary for acetazolamide-induced ectrodactyly in the rat.

Abnormalities, Drug-Induced↗

PubMed1989

Anatomical features associated with preaxial duplication (pd): a recessive mutation in the rat.

Preaxial polydactyly of the fore- and hindlimbs was found in Wistar-derived rats in 1978. Genetic analysis indicated that the polydactyly was due to the effects of an autosomal recessive gene (gene symbol; pd). Polydactylous homozygous rats had two or three pollices (six or seven digits) in the forelimbs and one to three preaxial extra digits (six to eight digits) in the hindlimbs. Skeletal examination revealed the presence of the extra carpal, metacarpal, and phalangeal bones that seemed to be complete or incomplete duplication of the navicular, greater multangular, first metacarpal, and phalanges of digit I in the forelimbs. In the hindlimbs, extra tarsal, metatarsal, and phalangeal bones were also observed preaxially. These extra elements seemed to be mirror-image duplications of the talus, navicular, second cuneiform, third cuneiform, cuboid, and metatarsals and phalanges of digits II-V with the absence of the first cuneiform, tibiale, first metatarsal, and phalanges of digit I. In addition, morphological changes were observed in the humerus, radius, and ulna in the forelimbs and femur, tibia, and fibula in the hindlimbs. Especially in the radius and tibia, thickening and bifurcation were found, indicating incomplete duplication of these bones. Based on these findings, the limb anomaly was classified as preaxial carpometacarpal/tarsometatarsal-type polydactyly with incomplete duplication of the radius and tibia. The mutant rats had other associated anomalies such as accessory spleens and cryptorchism. The males are sterile, whereas the females breed normally.

Animals↗

PubMed1981

Complex segregation analysis of the locus for beta-aminoisobutyric acid excretion (BAIB).

High excretion of BAIB is determined by an incompletely recessive gene jointly with other familial factors. The parameters estimated from a Japanese sample are: gene frequency = 0.6, displacement between homozygotes = 2.1 sigma, dominance = 0.2, and polygenic heritability = 0.1. Supplementary tests support this mixed model and (unlike classical analysis) give no evidence of segregation disturbance. Complexity of BAIB inheritance should be allowed for in population comparisons and linkage studies, which can be performed reliably under the mixed model.

Aminoisobutyric Acids↗

PubMed1980

X chromosome constitution and the human female phenotype.

The correlations of abnormal X chromosome constitutions and the resulting phenotypes in the human female are reviewed. The following hypotheses put forward to explain these correlations are discussed in detail: (1) The damage is done before X inactivation; (2) An effect is exerted between reactivation of the X chromosome(s) and meiosis in oocytes; (3) A recessive gene(s) in hemizygous condition might be expressed in the cases in which the same X is active in all cells; (4) A change in the number of presumed active regions on the inactive X chromosomes might have an effect; (5) A position effect, in that the region Xq13-q27 has to be intact in both X chromosomes to allow normal development, may be responsible; (6) An effect during the period when cells with different inactivation patterns compete is a probability; (7) The original X inactivation may be neither regular nor random. The conclusion reached is that the phenotypic effects of a specific X chromosome aberration may be simultaneously exerted through different pathways (Tables 1 and 2). Hypotheses (2), (4), (5), and (6) are considered probable. Hypothesis (3) has been discarded, and there is very little evidence for hypotheses (1) and (7).

Adolescent↗

PubMed1989

Segregation frequency in microcephaly.

A total of 118 cases of microcephaly were clinically evaluated under two main groups: primary microcephaly (61 cases) and secondary microcephaly (57 cases). Secondary cases were generally characterized by convulsions, spasticity, and other congenital anomalies. Estimates of segregation frequency obtained separately in primary and secondary cases indicated that the primary consanguineous cases were most probably due to a single recessive gene. The segregation frequency was substantially less in other types, indicating much lower genetic risks in these cases.

Consanguinity↗

PubMed1981

Inbreeding and the genetic control of nondisjunction.

We have studied the frequency of trisomics in newly formed zygotes and the proportion of trisomics, k, coming from consanguineous marriages by assuming that recessive genes at a single locus or multiple loci are responsible for the induction of nondisjunction. For mitotic nondisjunction, the value of k increases as the magnitude of consanguinity of the parents increases, but the opposite relationship holds for meiotic nondisjunction. Therefore, it is important to distinguish mitotic and meiotic types in the genetic study of nondisjunction. This seems to be one of the simplest tests for detecting the genetic control of nondisjunction.

Consanguinity↗

PubMed1982

Family studies in psoriasis. I. Complex segregation analysis.

The genetic background of psoriasis is unknown and its mode of inheritance is still controversial. Family studies in psoriasis were based on complex segregation analysis and a special computer programme was prepared. The results of the analysis in 244 families strongly suggest multifactorial inheritance of psoriasis vulgaris. Among the nine hypotheses of rank 1 and rank 2, the lowest value of chi-square, 72.847, was for recessive inheritance, but for the multifactorial model it was extremely low (chi-square = 35.980). The estimated heritability was 82%. It might be possible that at least two genetically distinct subpopulations of psoriasis vulgaris exist: one with multifactorial inheritance and a second with multigenic determination, if the disease were due to recessive genes and to one or more dominant factors. The theoretical recurrence risk of psoriasis for the multifactorial model was computed for families with normal parents and for families with one affected parent.

Alleles↗