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At least 811 records · Page 45Linked to original sources
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↗
PubMed2003

Molecular diagnosis of dysmorphic syndromes and inherited metabolic disorders in Thailand.

While dysmorphic syndromes and inherited metabolic disorders are individually rare, they collectively account for a significant proportion of illnesses, especially in children. They present clinically in a wide variety of ways, involving virtually any organ or tissue of the body making them relatively difficult to diagnose. However, reaching an accurate diagnosis for children with dysmorphic features and suspected inherited metabolic disorders is important to them and their families both for treatment and for the prevention of disease in other family members. It also makes all the accumulated knowledge available about the relevant condition. Molecular techniques have kindled a revolution in the diagnosis of genetic disorders, including dysmorphic syndromes and inherited metabolic disorders. Molecular methods essentially avoid problems of other techniques. This review exemplifies some of the diseases that can be diagnosed by molecular tools available in Thailand and illustrates some of their benefits.

Genetic Diseases, Inborn↗
PubMed1965

STUDIES ON THE INHERITANCE OF CARBAMATE-RESISTANCE IN THE HOUSEFLY (MUSCA DOMESTICA L.).

In view of the increasing importance of carbamic acid esters in insect control, the authors have conducted studies on the inheritance of carbamate-resistance in the housefly Resistance to Isolan (1-isopropyl-3-methyl-5-pyrazolyl dimethylcarbamate) in carbamate-selected strains is inherited as a partially dominant major single factor, without sex linkage or appreciable cytoplasmic influence. Inclusion of piperonyl butoxide as a synergist with Sevin (1-naphthyl methylcarbamate), Zectran (4-dimethylamino-3,5-xylyl methylcarbamate), or m-isopropylphenyl methylcarbamate also produced evidence of monofactorial inheritance.In contrast, resistance to Isolan and to a combination of Sevin and piperonyl butoxide in a ronnel-selected strain is inherited in a pattern suggestive of a polygenic system.The results obtained are discussed in the light of previously established data on the rate of development, stability and regression of carbamate-resistance.

Animals↗
PubMed2003

[Genetic analysis of a Chinese family with inherited afibrinogenemia].

OBJECTIVE: To identify the mutations of fibrinogen genes in a Chinese family with inherited afibrinogenemia. METHODS: Samples of peripheral blood were collected from 17 members of 3 generations in a Chinese family with inherited afibrinogenemia, including the proband, female, aged 8. All the exons and exon-intron boundaries of the three fibrinogen genes were analyzed by direct sequencing. RESULTS: The sequencing results of the proband revealed compound 2 heterozygous mutations in fibrinogen FGA gene, one being a splice mutation (g.1892-1899delAGTAorGTAA) in the boundary between exon3 and intron3 of the FGA gene and traced back to her patriline and the other being a 1,238 bp large deletion (g.1978-3215) in the same gene and originating from her matriline. CONCLUSION: Inherited afibrinogenemia is caused by the compound heterozygous deletion in the fibrinogen FGA gene.

Child↗
PubMed1992

Markers of procoagulant imbalance in patients with inherited thrombophilic syndromes.

In 107 asymptomatic and untreated patients with inherited syndromes associated with thrombophilia (antithrombin III, protein C and protein S deficiencies), we compared in parallel two plasma peptides which reflect activation of the common coagulation pathway: the prothrombin fragment 1 + 2 (F1 + 2) and fibrinopeptide A (FPA). Both F1 + 2 and FPA were measured with simple, commercially available ELISA methods. High levels of F1 + 2 or FPA were found in about one fourth of the patients as a whole. When patients were divided according to the type of inherited thrombophilic syndrome, it appeared that F1 + 2 was more frequently elevated in protein C and protein S deficiencies than in antithrombin deficiency; and that, in general, it was no more frequently elevated than FPA. Although our data confirm the existence of a procoagulant imbalance in inherited thrombophilic syndromes due to defects of natural anticoagulant proteins, they do not confirm that such imbalance can be more frequently diagnosed by measuring F1 + 2 levels, particularly in patients with antithrombin deficiency.

Adolescent↗
PubMed2004

[Genetic analysis in a Chinese deaf-mute family with X linked recessive inheritance].

In studying genetic factors in hearing loss among Chinese hearing-impaired population, a Chinese family with deaf-mute that had been reversion inherited through five generations was found (named pedigree L021). X linked recessive inheritance was hypothesized to be the transmission in this family. A total of 64 members in this family were investigated. Of these, audiometric evaluation was performed on 31 members, including 8 males with deaf-mute. Most affected individuals showed deafness or profound sensorineural hearing loss. Blood samples were obtained from 31 consented individuals in this family. Pedigree analysis indicates a X-linked recessive inheritance pattern in pedigree L021. The pedigree described herein provides an excellent model for further study on the molecular mechanism of congenital deaf-mute.

Adult↗
PubMed2004

[Inherited dystonia update].

Among idiopathic dystonia, inherited dystonia whose causative gene or linkage has been clarified are named as DYT1 to DYT15. The causative genes of DYT1, 5 and 11 were identified as genes of Torsin A, GTP cyclohydrolase I, and epsilon-sarcoglycan, respectively. All three are inherited dominantly. DYT1, and DYT5 which is known as Segawa disease, are dystonia with onset in childhood. After identification of the causative gene, each disorder was found to show the various phenotypes. In both DYT1 and Segawa disease, early onset develops generalized dystonia, and later onset focal or segmental dystonia. Deep brain stimulation of globus pallidus internal segment shows remarkable effect on DYT1. Segawa disease responds markedly to L-dopa without any side effect lifelong. The pathophysiology of Segawa disease is that partial deficiency of BH4 resulted from GCH I deficiency, rate limiting enzyme of synthesis of BH4, affects the TH activity at terminal of nigrostriatal dopamine neuron. The role of Torsin A in the pathogenesis of DYT1 is unknown. For a certain neuron or neuronal system to manifest a clinical symptom, it should reach to a certain maturational level. The symptoms of inherited dystonia are influenced by the developmental level of responsible neuron or neuronal circuit.

Dystonia↗
PubMed2005

[Inherited disorders of bilirubin metabolism].

Jaundice in an infant or older child may reflect accumulation of either unconjugated or conjugated bilirubin and could be related to inherited bilirubin disorders. Three grades of inherited unconjugated hyperbilirubinemia are recognised in humans. This spectrum of disorders is distinguished primarily on the basis of the plasma bilirubin level, the response to phenobarbital administration, and the presence or absence of bilirubin glucoronides in bile. The enzyme responsible for the conjugation of bilirubin is the bilirubin uridine-diphosphate-glucuronosyltransferase (UGT). Mutations in the gene encoding bilirubin-UGT (UGT1A1), lead to complete or partial inactivation of the enzyme causing the rare autosomal recessively inherited conditions, Crigler-Najjar syndrome type 1 (CN-1) and type 2 (CN-2). Gilbert syndrome (GS) is due to an insertional mutation at homozygous state of the TATAA element (seven TA repeats) of UGT1A1 producing a reduced level of expression of the gene. The association of GS with haemolytic anemias, e.g., Hereditary Spherocytosis (HS) or Congenital Dyserythropoietic Anemia type 2 (CDA 2), increase the hyperbilirubinemia level and the risk of cholelithiasis. Forms of chronic conjugated hyperbilirubinemia are Dubin-Johnson syndrome, Rotor syndrome, Alagille syndrome or arteriohepatic dysplasia, Wilson disease or hepatolenticular degeneration. Liver or liver cell transplantation is the therapy in some cases.

Bilirubin↗
PubMed2005

Inherited antithrombin deficiency and end stage renal disease.

Antithrombin is a potent inhibitor of the coagulant effect of thrombin. In the latter half of 20th century, many families have been described in which an autosomaly dominant inherited antithrombin deficiency has caused severe venous thromboembolic disease in successive generations. The important complication is severe venoocclusive disease by deep venous thrombus. Some inherited antithrombin deficient patients developed renal failure because of fibrin deposition in the kidney glomeruli or renal vein thrombus, and therefore the need for replacement therapy for end stage renal disease (ESRD). Although an inherited antithrombin deficiency with renal failure is rare, prevention against renal failure in such patients, and their renal replacement therapy for ESRD are important. Proteinuria decreases plasma antithrombin level leading to more severe hyper-coagulation state. Therefore early in renal disease, it may be prudent for adaptation of anti-coagulation therapy even if recurrent thrombosis has not occurred. All replacement therapy (hemodialysis, transplantation or peritoneal dialysis) for ESRD are available for such thrombophilic disorders. Anticoagulation agents working without aggravation of antithrombin effects (Argatroban, Nafamostat mesilate etc.) are useful for hemodialysis. The renal allograft recipients with thrombophilia seem to be at risk of developing an acute rejection or other vascular event. Peritoneal dialysis is potentially a good adaptation for such thrombophilic disorders. However which therapy has the best mortality and morbidity outcomes is not clear. Physicians and Surgeons must pay attention to the coagulation state and thrombophilia in ESRD patients, give strong consideration for adequate anti-coagulation therapy and review the best renal replacement modality for each patient.

Animals↗
PubMed1992

Inheritance of susceptibility: Lamarckism revisited.

The familial nature of susceptibility to rheumatic fever has been known for nearly three quarters of a century but even after massive ascertainments of affected families in 5 major cities, viz Toronto, Belfast, London, Glasgow and New York, a consensus on the exact mode of inheritance could not be reached. Reduced penetrance was suggested 40 years ago and still cited today even though the fit is poor. However with the sampling bias of the observed data resolved in the recently formulated geometric continuum v(affected-1) x P(sibship) (where O less than v----infinity) all those published ascertainments clearly show a unilocal Mendelian recessive mode of inheritance. Since rheumatic fever is clearly associated with streptococcal sore throat, I have therefore demonstrated the inheritance of an acquired trait. This Larmarckian concept is explained using simple numerical examples.

Genetic Predisposition to Disease↗
PubMed1991

Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.

The identification of defects in the prion protein (PrP) gene in families with inherited Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome allows presymptomatic diagnosis or exclusion of these disorders in subjects at risk. After counseling, PrP gene analysis was performed in three such individuals: two from families with a 144-bp insert and one with a point mutation at codon 102 in the PrP gene. The presence of a PrP gene defect was confirmed in one and excluded in two. Despite the potential problems of using PrP gene analysis in genetic prediction - specifically, uncertainty about penetrance and, generally, problems of presymptomatic testing in any inherited late-onset neurodegenerative disorder - we conclude that it has a role to play in improved genetic counseling for families with inherited prion diseases.

Adult↗
PubMed2006

[Mating types in the ciliate Dileptus anser. Inheritance and genetic determination].

Hybridological analysis of mating types (MTs) has been first made for the lower ciliate Dileptus anser. Clones of an initially unknown genotype belonging to three MTs (MT I, MT II and MT III), characteristic of D. anser, were isolated from natural reservoirs and further used for crosses. In one group crosses, synclonal inheritance and typical Mendelian behaviour of the character were observed over sexual generations of ciliates. The results suggest that MTs in D. anser may be directly controlled by a single mat locus with three alleles showing peck-order dominance (mat1 > mat2 > mat3). In other words, cells with mat1/mat1, mat1/mat2 and mat1/mat3 genotypes belong to MT I, those with mat2/mat2 and mat2/mat3, and the mat3/mat3 belong to MT II and MT III, respectively. Sexually mature exconjugant clones stably retain their MTs corresponding to their genotypes on vegetative reproduction. The progeny of other group crosses showed various deviations from typical Mendelian behaviour of the character. In some cases, standard Mendelian ratios were more or less violated. Most typical was instability of differentiation for MT in maturing exconjugant clones. Shortly after their maturation, the majority of clones change their MT, rather frequently more than once, although the finally established MT is stably inherited afterwards, during vegetative reproduction. When unstable, exconjugant clones can successively express two or even three MTs characteristic of this species, including MTs that should not have been expected on the basis of parental genotypes available in a given cross. It looks likely that the mat locus in D. anser is complex and multipotential; it is inherited as a whole providing for expression of any MT characteristic of the species (in this respect bearing similarity with Tetrahymena thermophila). Other mechanisms, epigenetic in particular (Nanney, 1958), determine the final expression of one of the three MT potentialities by a given exconjugant clone. Stable, persistent functioning of these mechanisms ensures a stable differentiation for MT and Mendelian behaviour of the character in sexual generations and in crosses. Any disturbances in differentiation control may trigger MT instability in maturing exconjugant clones and violation of regular Mendelian behaviour.

Animals↗
PubMed1999

Inherited metabolic disease.

Our understanding of the pathophysiology and of new treatments for inherited metabolic diseases that affect the liver continues to grow through the study of gene mutations and their functional effect on the proteins they encode. For genetic hemochromatosis and Wilson's disease, studies focused on the function of their respective gene products provide new insights into metal metabolism. For Crigler-Najjar syndrome, an inherited disorder that results in failure of proper bilirubin glucuronidation, the once futuristic idea of treatment by transplantation of donor hepatocytes has now proven successful in a human recipient. With continued study and experimentation, our diagnostic and therapeutic capabilities will continue to expand for these and other inherited metabolic disorders. Although this increase in new information has sparked numerous reviews of these subjects, the following are highlights from the past year that include information relative to disease diagnosis and treatment, as well as new insights into pathogenesis.

Journal Article↗
PubMedDate not supplied

[Genomic imprinting: a case of inherited hematocrit, radiosensitivity, and antioxidant status in human being, as well as weight of newborn mammals].

Epigenetic hypothesis of dynamic genomic parental imprinting, explaining the mechanisms of formation and inheritance of quantitative characters in multicellular organisms, is proposed. Method for analyzing the compliance of quantitative characters of organisms with the hypothesis of dynamic genomic parental imprinting is developed. Examples of human characters and characters of other mammals inherited in accordance with the proposed model are given. It is concluded that the hypothesis can be used for studying ontogeny and explaining the mechanisms of inheritance of the morphoses providing the stability and evolution of species. Possible ways of further experimental verification of the hypothesis and areas of its practical application are discussed.

Animals↗
PubMed1991

Inherited factors in diffuse bronchiectasis in the adult: a prospective study.

To evaluate the prevalence of inherited respiratory ciliary structure and underlying mucus abnormalities in the diffuse bronchiectasis syndrome, we investigated 53 subjects comprising 38 patients with diffuse bronchiectasis confirmed by high-resolution thoracic computed tomography, ten with chronic bronchitis and no diffuse bronchiectasis and five healthy nonsmoking control subjects. The clinical history was determined by means of a standardized questionnaire. Axonemal abnormalities of respiratory cilia were evaluated on bronchial or nasal mucosa samples by transmission electron microscopy (structure) and stroboscopic observation (function). Cystic fibrosis (CF) and Young's syndrome were detected by means of the sweat test and semen analysis when male infertility was suspected. Among the 38 patients with diffuse bronchiectasis, a primary ciliary dyskinesia (PCD) was detected in five (13%) with a high proportion (range: 55-100%) of cilia showing axonemal ultrastructural abnormalities always involving the dynein arms. The prevalence of this inherited condition was higher in North African (36%) than in European patients (4%) (p less than 0.01). After exclusion of the five patients with PCD, the patients with diffuse bronchiectasis showed axonemal ultrastructural abnormalities similar to those with chronic bronchitis. The diagnosis of underlying mucus disorders was based on two types of criterion, i.e. for CF, sweat chloride levels greater than 80 mmol.l-1, or the combination of diagnostic criteria proposed by Stern et al. Respectively, five (three Young's syndrome and two CF) and seven (one Young's syndrome and six CF) cases of inherited mucus disorders were suspected. Our results showed that PCD was highly prevalent among the adult North African patients with diffuse bronchiectasis but relatively rare in the Europeans.

Adult↗
PubMed1991

[Brain adrenoreceptors in rats with inherited arterial hypertension due to emotional stress].

For the study of genetic and physiological mechanisms of inherited stress-sensitive arterial hypertension, specific binding of ligands of alpha 1-, alpha 2- and beta-adrenoceptors was measured in 2 strains of rats: Wistar normotensive and ISSAH rats (rats with inherited stress-sensitive arterial hypertension). The maximal binding sites (Bmax) and apparent dissociation constants (Kd) were studied with the alpha 1-adrenergic antagonist 3H-prazosin, alpha 2-adrenergic agonist 3H-clonidine and 3H-dihydroalprenolol, a beta 1-receptor antagonist. Four brain regions were investigated: frontal cortex, hypothalamus, pons and medulla oblongata. In comparison with normotensive controls, hypertensive rats had significantly greater density of the alpha 1-adrenoceptors in the medulla oblongata. However, the number of hypothalamic alpha 1-adrenoceptors was significantly reduced in these animals. The same significantly lower alpha 2-adrenoreceptor density was found in the hypothalamus and the pons, and lower, beta-adrenoceptors density in the medulla oblongata. It was concluded that brain adrenoceptors are involved in the mechanisms of development of inherited stress-sensitive hypertensive syndrome.

Animals↗
PubMed1990

The contribution of inherited predisposition to cancer incidence.

Only a small proportion of cancers, arising in inherited syndromes such as polyposis coli, have an unequivocally inherited basis. Nevertheless, most common cancers show familial clustering, much of which may be due to inherited predisposition. If so, there may be wide variation in genetic susceptibility to common cancers. The precise models of susceptibility are unclear, but for ovarian cancer and breast cancer there is some evidence that a small proportion of cases result from highly penetrant dominant genes. This has been confirmed recently for breast cancer by genetic linkage studies. Clear evidence for genetic susceptibility has been obtained for Hodgkin's disease and nasopharyngeal carcinoma, where the existence of susceptibility genes at the HLA locus has been demonstrated by linkage analysis. These genes could account for the majority of cases of these cancers. Identification of other cancer susceptibility genes should be possible, either directly using linkage analysis, or through identification of constitutional phenotypes related to cancer risk.

Disease Susceptibility↗
PubMed1990

A study of the inheritance of susceptibility to bovine spongiform encephalopathy.

A genetic study of 75 cases of bovine spongiform encephalopathy (BSE) of which 51 were confirmed by histopathology in 29 pedigree and seven non-pedigree herds of Holstein Friesian cattle revealed that 73 per cent of 60 BSE cases had first or second degree relatives also affected. All the 44 cases assigned to families could be traced back in the previous three generations to one cow and 11 bulls, which were of Canadian Holstein or Dutch Friesian heredity. No single common ancestor could be identified in the parentage of BSE-affected animals in pedigree studies up to six or more generations. The number of common ancestors and the degree of relatedness of the affected animals in a multiple-case herd was no more than would be expected from the breeding structure of the herd. The segregation ratio of affected cows in the proband generation within sire and maternal grandsire sibships in 12 pedigree herds was not inconsistent with Mendelian expectation for autosomal recessive inheritance with complete penetrance. The data analysed shows that the disease itself is not simply inherited. However, there remains a real possibility that the susceptibility of individual animals to BSE is inherited. This should be taken into account in current and future research on the aetiology and control of the disease.

Animals↗