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At least 19 recordsLinked to original sources

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↗

PubMed1998

Genetico-mathematical analysis of the inheritance pattern of ulcer disease. A posteriori methods. The maximum likelihood method.

Inheritance pattern of ulcer disease was analysed genetico-mathematically using one of the a posteriori methods--the method of maximum likelihood. We studied the families of 351 hereditary predisposed probands of whom 57 with type II gastric ulcer disease, 27 with type III gastric ulcer disease and 267 with duodenal ulcer disease. The types of ulcer disease were determined according to H. Johnson. The analysis of the patients with duodenal ulcer also included the types of familial predisposition of the probands. The results yielded by the maximum likelihood method excluded to a great degree the possibility of monogenic transmission of ulcer disease. None to the three types of peptic ulcer showed autosomal recessive pattern of inheritance; it was not found even in the families with phenotypically healthy but hereditary predisposed parents. No evidence was found of autosomal dominant pattern of inheritance of the disease in all studied groups including the families with one sick parent. This is supported by the different values of the segregation coefficients in the families with one sick father and one sick mother. The absence of evidence for monogenic mode of inheritance of the disease indicated by the detailed genetico-mathematical analysis should be further evaluated by the criteria of polygenicity.

Humans↗

PubMed2007

The unusual inheritance pattern of the courtship songs in closely related grasshopper species of the Chorthippus albomarginatus-group (Orthoptera: Gomphocerinae).

Sibling species of the Chorthippus albomarginatus-group are exceptional among all European grasshopper species because they have an extremely elaborate courtship behaviour. Here, we present a genetic analysis of the courtship song differences between two closely related grasshopper species Ch. albomarginatus and Ch. oschei. Measurements of seven courtship song characters and one parameter of courtship visual display were compared among parentals, F(1) and F(2) hybrids, and backcrosses. Variation in one morphological character, the number of stridulatory pegs, was studied as well. The distributions of song phenotypes were more consistent with a type-III genetic architecture, which involves complementary or duplicate pairs of loci. We suggest that this type of architecture may provide the novel elements of the hybrid songs, even more complex than the parental ones, which may offer a new starting point for sexual selection. One parameter of the visual display appeared to be controlled by a single locus, but differences in other characters of visual display could be explained by a more complex inheritance pattern. Inheritance of the peg number differences was consistent with a simple polygenic additive model. Sex linkage and/or maternal effects were not detected for any trait. We found a disproportionate influence of the Ch. albomarginatus parent on most hybrid song characteristics and the visual display, and this may support a previously suggested idea that Ch. albomarginatus is an ancestral form and Ch. oschei is a derived species.

Animal Communication↗

PubMed1975

Cytoplasmic inheritance in Saccharomyces cerevisiae: comparison of first zygotic budsite to mitochondrial inheritance patterns.

Zygotic first budsite in Saccharomyces cerevisiae was studied in relation to defined mitochondrial inheritance systems: both petite and drug resistance. It was hypothesized that a highly asymmetric inheritance pattern would be correlated to a high frequency of first budsites on the petite or drug resistant end of the zygote (i.e., that portion of the zygote which was originally the drug resistant or petite haploid before zygote formation). The data collected did not support the hypothesis. For drug resistance, the budsite pattern is identical for a highly biased and a moderately biased inheritance pattern. In a grande by grande cross there is a high probability of the first bud appearing on the conjugation bridge, with lower but equal probabilities of the first bud appearing on one end or the other of the zygote. A grande by petite cross changes this pattern to a high probability of the first bud appearing on the grade end of the zygote, with a lesser probability of the first bud appearing on the conjugation bridge and virtually no budding of the petite end. This phenomenon is independent of degree of neutrality or suppressiveness of the petite strain used, however. The difference between a grande and a grande by petite pattern may be due to the relative functional ability of the mitochondria in each end of the zygote. Tests using antimitochondrial drugs suggest that selection of first budsite on a zygote is a complex phenomenon, not simply dependent upon mitochondrial phenotype. In conclusion, selection of the first zygotic budsite appears to be independent of mitochondrial inheritance patterns.

Cell Division↗

PubMed2005

Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband.

Beckwith-Wiedemann syndrome (BWS) is congenital disorder whose molecular etiology is related to genetic and epigenetic mutations on 11p15. The majority of cases of BWS are sporadic, but a substantial proportion are familial, with an unknown inheritance pattern, although autosomal dominant and sex-dependent inheritance have been proposed. We tested the hypothesis that in familial BWS, autosomal dominant inheritance is the primary mode of transmission underlying familial instances. Segregation analysis was performed in 291 families ascertained with an affected child. Individuals were considered to have BWS if they had two of five major features: macroglossia, macrosomia, hypoglycemia at birth, abdominal wall defect, and ear pits or creases. Models of inheritance were tested using pedigree analysis package (PAP) parameterized for a discrete trait. A total of 291 families of an affected proband were included in the study. The analysis was based on a revised general model that included a boundary solution. Sporadic and environmental models were rejected. Overall, the results suggested Mendelian inheritance but under recessive or additive mode of inheritance, which fit the data equally well rather than dominant inheritance. However, the presence of families in the cohort consistent with dominant and sex-dependent inheritance suggest familial BWS may be a heterogeneous group comprised of different inheritance patterns. Familial BWS does not appear to be consistent with autosomal dominant transmission, and is likely a complex mixture of different inheritance patterns.

Beckwith-Wiedemann Syndrome↗

PubMed2003

Idiopathic fetal intrauterine growth restriction: a possible inheritance pattern.

OBJECTIVE: This study was conducted to assess if the delivery of a previous growth-retarded (IUGR) fetus increases the risk of having an IUGR fetus in subsequent pregnancies and to explore if a familial pattern of transmission is involved. METHODS: Seventy consecutive multiparous women whose fetus was IUGR (group 1) and 70 controls (group 2) were enrolled in this study. RESULTS: The proportion of women who developed preeclampsia (9 versus 2, p = 0.05) and who had delivered an IUGR fetus in a previous pregnancy (20 versus 4, p < 0.05) were higher in group 1 than in group 2. There was no difference in the incidence of chronic hypertension, diabetes, smoking, substance or alcohol abuse, and HIV infection between the groups. After adjustment for preeclampsia, the delivery of a previous IUGR fetus remained a risk factor for having a subsequent IUGR fetus [Odds ratio = 6.7 (CI 2.15-21.22), p < 0.01]. Pedigree analysis conducted in 15 families revealed a familial cluster of IUGR infants in all families that were investigated. In 9 out of 15 families, a dominant pattern of inheritance of IUGR was observed while the remaining families were more heterogeneous. In one family, a balanced carrier of chromosome 7 inversion generated a malformed fetus and two IUGR infants. CONCLUSIONS: This study clarifies that IUGR may be an inherited genetic condition and emphasizes that a knowledge of the family history and of the parental karyotype may be helpful in the prevention of both fetal malformations and adverse neonatal morbidity in subsequent low birth weight infants.

Adult↗

PubMed1983

X-linked and autosomal inheritance patterns of homologous genes in two species of Tribolium.

The tenebrionid beetles Tribolium castaneum and T. confusum are representative of two distinct species groups within their genus. It has been suggested [Smith, S.G. (1952). J. Morphol. 91:325] that the 8AA + neo-XY karyotype of T. confusum was derived from the ancestral 9AA + XY formula, still present in T. castaneum, via the fusion of one pair of autosomes with the X and Y chromosomes during the early divergence of the confusum and castaneum species groups. In the present paper, electrophoretic variation in malic enzyme and hexokinase-1, detected in laboratory strains in Tribolium, is described. Evidence is presented that the genes encoding variation in both enzymes are autosomal in T. castaneum but are X linked in T. confusum. These species-specific patterns of inheritance of homologous gene loci are consistent with the hypothesized karyotypic history of the genus.

Animals↗

PubMed1997

Application of the a priori methods for genetico-mathematical analysis of the inheritance pattern of ulcer disease.

The a priori methods were used to perform a detailed genetico-mathematical analysis of the pattern ulcer disease is inherited. The study included families of 351 probands. Of these, 267 were with duodenal ulcer, 57 with gastric ulcer type II, and 27 with gastric ulcer type III. The types of gastric ulcer were defined according to the classification proposed by H. Johnson. The cases of duodenal ulcer were also analyzed depending on the type of familial predisposition of the patients. The results from Bernstein's a priori method and Li's a priori correction method exclude autosomal recessive pattern of inheritance of the three types of peptic ulcer, not even in the families with healthy but hereditarily predisposed parents. On the other hand, the difference between the numbers of actually observed and theoretically predicted sick children in all groups studied, including those in the families with one sick parent, found by applying the Hogben modification of Bernstein's a priori method, is not consistent with an autosomal dominant pattern of inheritance. Nor is this inheritance pattern consistent with the finding that there are no essential differences between the quantitative parameters of the families with one or two sick parents. It is, therefore, concluded that this disease is not possible to be passed down in generations in a monogenic mode.

Duodenal Ulcer↗

PubMed1996

Prolactinomas in a large kindred with multiple endocrine neoplasia type 1: clinical features and inheritance pattern.

Multiple endocrine neoplasia type 1 (MEN 1) is associated with neoplasia and hyperfunction of the parathyroid and pituitary glands, pancreatic islet cells, and neuroendocrine cells of the gut. The inheritance pattern is autosomal dominant, and the underlying genetic defect is situated at chromosome 11q13. The MEN 1 gene behaves as a defective copy of a normally constitutive tumor suppressor gene. Development of the MEN 1 phenotype, however, is a multistep and multifactorial process. The Tasman 1 genealogy is the largest MEN 1 pedigree detected to date. Thus far, 90 related members with MEN 1 have been screened for evidence of prolactinoma. Prolactinomas were found in 18 patients (20%). Prolactinomas were not evenly distributed in the genealogy; in 2 branches of the overall genealogy prolactinomas were present in 50% or more of MEN 1-affected members. The familial distribution of prolactinomas in these branches was consistent with an autosomal dominant mode of inheritance. In the remainder of the pedigree, prolactinomas were uncommon and did not display this inheritance pattern. This pedigree represents one of the largest published MEN 1 genealogies in which the risk of developing prolactinoma follows an autosomal dominant pattern of transmission. It is the first to demonstrate an inheritance pattern for prolactinomas acting in addition to, yet distinct from, the inheritance of the underlying MEN 1 gene defect. These findings are consistent with the existence of an undefined second genetic defect involved in the pathogenesis of prolactinoma in MEN 1.

Adult↗

PubMed2003

Chloroplast inheritance patterns in Actinidia hybrids determined by single stranded conformation polymorphism analysis.

The inheritance patterns of the chloroplast genomes of the Actinidia hybrids A. eriantha (male parent) x A. chinensis (female parent) and A. chinensis (male parent) x A. melanandra (female parent) were analyzed using single-strand conformation polymorphism (SSCP) analysis of the trnL-trnF and psbA-trnH intergenic spacers. This showed that the artificial hybrids between A. eriantha and A. chinensis all had the haplotype of their male parent. Alignment of the sequences of A. eriantha and A. chinensis revealed four substitutions and one insertion (GATTC) in trnL-trnF and two substitutions in psbA-trnH. In contrast, the haplotypes of the artificial hybrids between A. chinensis and A. melanandra had the same patterns as their female parent. Alignment of the entire region of A. chinensis and A. melanandra revealed 12 substitutions: 1 in trnL-trnF and 11 in psbA-trnH. However, no sequence variation in the trnL-trnF and psbA-trnH intergenic spacers was found. We have developed a simple screening method for detecting the inheritance patterns of Actinidia chloroplast DNA haplotypes using SSCP analysis of the trnL-trnF and psbA-trnH intergenic spacers. Our findings indicate that the inheritance of the chloroplast genome in Actinidia hybrids differs according to the species selected.

Actinidia↗

PubMed1996

Unusual inheritance patterns due to dynamic mutation in fragile X syndrome.

Fragile X syndrome is the most common form of familial mental retardation and is one of the world's most common genetic diseases. The inheritance patterns of the disease have many unusual features. It is an X-linked disorder yet there are asymptomatic carrier males. The disease is expressed only when the gene is inherited from the mother. The risk of a carrier woman having a child with the syndrome depends upon her position in the pedigree (the Sherman paradox) and her own intellectual status. The discovery that the disease is due to dynamic mutation (which is a multistage process) that inactivates FMR1 has provided an explanation for the unusual inheritance patterns. The finding of linkage disequilibrium between the fragile X mutations and closely linked DNA markers (haplotype) has required a reinterpretation of this phenomenon for dynamic mutations. Only a small number of normal alleles at the fragile X locus have long stretches of perfect repeat (2% with more than 24 copies) and these form a reservoir of alleles that can increase in length into the premutation range. Dynamic mutation is, so far, an exclusively human phenomenon, but this is probably because it has yet to be discovered in other species. Unusual inheritance patterns are a hallmark of dynamic mutation diseases.

Alleles↗

PubMed1981

Inheritance patterns of idiotype expression: maternal-fetal immune regulatory networks.

The production of Id-1, a cross-reactive idiotype associated with rat anti-group. A streptococcal carbohydrate antibodies, by 11 strains of rats indicates that genes coding for Id-1 are in the germline. Its expression, however, follows a complex inheritance pattern. It was our intent in these studies to determine if immune responsiveness of streptococcus (GASV) immunized females could alter Id-1 expression of GASV-immunized progeny, and, in turn, introduce complications in Id-1 inheritance patterns. - We observed that Id-1-specific immune reactivity of GASV-immunized females could induce significant alterations in Id-1 production by progeny. The relationship between maternal and progeny Id-1 was complex, reflecting the complexity of autologous regulation of Id-1 production, and could be the opposite of what one would predict based upon parental transfer of Id-1 regulatory genes. The nongenetic nature of the maternal regulatory influence was confirmed by foster-mother studies. - We conclude that antigen-induced maternal immune responsiveness can exert a permanent regulatory influence on idiotype expression by progeny and consequently introduce error in to the interpretations of idiotype inheritance patterns. The recognition of this maternal regulatory influence also lends further support to Jerne's hypothesis that idiotype-specific immune networks play a significant role in the regulation of immune responsiveness in vivo.

Animals↗

PubMed1986

Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis.

To determine how various inheritance patterns and responses to splenectomy relate to erythrocyte spectrin deficiencies in hereditary spherocytosis, we measured the spectrin content of erythrocytes by radioimmunoassay in 33 patients with this disease. Patients with the dominant form of hereditary spherocytosis generally had mild anemia, with spectrin at 63 to 81 percent of normal levels. Patients with the nondominant form of the disease had anemia ranging from severe to mild, with corresponding spectrin levels of 30 to 74 percent; their siblings were affected similarly. Distantly related homozygotes had different clinical severities with correspondingly different spectrin levels. The parents and offspring of patients with the nondominant form were clinically normal but consistently had subtle erythrocyte abnormalities. Spectrin levels in all patients were inversely related to osmotic fragility (P less than 0.0001), and they were also correlated with the clinical response to splenectomy: patients with spectrin levels above 70 percent achieved normal blood counts, those with levels of 40 to 70 percent had compensated hemolysis, and those with levels below 40 percent improved but remained anemic (P less than 0.0001). We conclude that the inheritance pattern and response to splenectomy in hereditary spherocytosis reflect erythrocyte spectrin deficiencies as determined by radioimmunoassay.

Anemia, Hemolytic, Congenital↗

PubMed2002

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Retinitis pigmentosa (RP) and allied diseases are heterogeneous clinically and genetically. Here we summarize the retinal cell types involved in these diseases, the large number of genes that cause them, and the variety of inheritance patterns that the affected families display. Special consideration is given to unusual inheritance patterns. The aggregate carrier frequency for recessive RP alleles may be as high as 10%.

Alleles↗

PubMed1993

The inheritance pattern of dysplastic naevi in families of dysplastic naevus patients.

Dysplastic naevi (DN) are the major precursor lesions of malignant melanoma, yet the presumed mode of inheritance or genetic aetiology of DN remains controversial. The inheritance pattern of DN in families from a randomly selected population of 26 dysplastic naevus patients was investigated by estimating the segregation ratio in families ascertained through an offspring with DN (incomplete ascertainment). For families ascertained through a parent with DN (complete ascertainment) the transmission pattern was examined by comparing the observed number of affected offspring to the expected number using a chi 2 goodness-of-fit test. Results from the chi 2 tests and the estimated segregation ratio of 0.52 (95% confidence interval: 0.31, 0.73) suggest that the inheritance pattern for dysplastic naevi in these families is consistent with autosomal dominant transmission, although the present study was limited because of a small sample size. The findings, therefore, need to be confirmed by a much larger study that is able to test more rigorously specific genetic hypotheses.

Dysplastic Nevus Syndrome↗

PubMed2002

Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns.

To investigate the genetic basis of constitutional delay of growth and maturation (CD), 41 families of CD probands underwent interviews regarding pubertal timing, and 12 additional families had history data analyzed from medical records. The family histories of the 53 probands (40 boys and 13 girls) were assessed for pubertal delay using both strict criteria (pubertal delay >or=2 SD beyond the mean) and relaxed criteria (pubertal delay >or=1 SD beyond the mean). These pedigrees were compared with 25 control pedigrees. Mean age of menarche was 14.3 +/- 1.4 yr for mothers of CD probands vs. 12.7 +/- 1.4 yr for mothers of controls (P < 0.0001). Thirty-eight percent of CD mothers met the strict 2 SD criteria, and an additional 29% met the relaxed 1 SD criteria for pubertal delay. By contrast, among the control mothers, 12% met the strict and an additional 8% met the relaxed criteria (P < 0.0001 for comparison with CD mothers). CD fathers were also more likely than the control fathers to have a history of pubertal delay. For first-degree relatives, the estimated relative risk of meeting the 2 SD and 1 SD criteria for delay in CD vs. control pedigrees were 4.8 and 4.9, respectively; estimated relative risk for second-degree relatives were 3.2 and 4.4, respectively. Inheritance patterns varied, but many families showed an apparent autosomal dominant pattern, with or without incomplete penetrance. Although many genes may underlie CD, the inheritance patterns suggest that there are also single genes with major effects whose penetrance is likely affected by genetic or environmental modifiers. The future identification of these major and modifying genes is an exciting prospect that would improve our understanding of the factors that regulate human pubertal timing and modulate the human reproductive endocrine axis.

Adolescent↗

PubMed1994

Craniofacial structure related to inheritance pattern in amelogenesis imperfecta.

The aim of this study was to investigate the craniofacial structure in 66 children and adolescents, 34 girls and 32 boys, with known clinical manifestations and inheritance patterns for amelogenesis imperfecta (AI), and to compare the results with those obtained in a control group of age and sex matched persons with normal occlusion. The ages ranged from 6.8 to 21.2 years. Clinically, AI was divided into cases characterized by either hypoplasia or hypomineralization of the enamel. In a further subgrouping, eight clinical variants were diagnosed. Measurements of 12 angular and 15 linear, parameters on lateral cephalometric radiographs were included in comparisons between the AI and the control group. Compared with the control group, the AI group displayed statistically significant differences indicating a skeletal open bite. In the analysis of inheritance patterns and clinical manifestations, a skeletal open bite was associated with autosomal dominant (AD) and X-linked inheritance, and in the AD group with hypomineralization. When all cases except those with X-linked inheritance were pooled, deviations indicating a skeletal open bite were found in the subgroups "rough hypoplastic AI" and "hypomineralization AI." Since a skeletal open bite was found both with X-linked inheritance and in some of the subgroups connected with autosomal inheritance, the hypothesis of a pleiotropic gene effect as the cause of the simultaneous occurrence can be ruled out. The influence of modifying genes or environmental factors is suggested.

Adolescent↗

PubMed2000

Retinitis pigmentosa: distribution of inheritance patterns in a VA blind rehabilitation center population.

Objectives: This purpose of this study was to characterize retinitis pigmentosa (RP) patients at the Southeastern Blind Rehabilitation Center (SBRC) by inheritance pattern, and compare the results with similar studies. Study Design: Records of all RP patients who were in the blind rehabilitation program at the SBRC between 1989 and 1993 were reviewed (n=50). Patients were included in the study who could be personally contacted and whose records were complete (n=43). Pedigrees were obtained through review of records and patient interviews. Results: The analysis showed 24 patients (55.8%) were simplex (no family history of RP), 8 patients (18.6%) were autosomal dominant, 4 patients (9.3%) were probable autosomal dominant, 4 patients (9.3%) were autosomal recessive, 2 patients (4.7%) were probable autosomal recessive and 1 patient (2.3%) was X-linked recessive. Conclusions: Unique trends were apparent in the distribution of inheritance patterns. Clinicians should be aware of the large number of simplex patients found in this and the majority of similar studies.

Journal Article↗