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At least 631 records · Page 35Linked to original sources
PubMed2004

[Genetic analysis of a heading-delayed mutant by T-DNA insertion in rice (Oryza sativa L.)].

Transposon tagging was used to isolate genes in higher plant. In this study, a delayed heading mutant caused by T-DNA insertion in rice was identified. Genetic analysis of the mutant showed that the three types of phenotype, normal heading, delayed heading and overly delayed heading in the segregating populations derived from the T-DNA heterozygotes fit the ratio of 1:2:1. Test for Basta resistance showed the delayed heading plants were all resistant while the normal heading plants were susceptible, and the ratio of resistant and susceptible plants was 3:1, which indicated that the delayed heading mutant was co-segregated with Basta resistance. The delayed heading mutant caused by T-DNA insertion was confirmed by T-DNA detection using PCR method. This delayed heading mutant will be used for isolation of the tagged gene in rice.

DNA Transposable Elements↗
PubMed1990

Molecular genetic analysis of cytoskeletal proteins in development and implications for the membrane skeleton.

The membrane skeleton of nonerythroid cells may be involved in a variety of processes, including the formation and maintenance of specific membrane-cytoskeletal domains. Although much has been learned about the ultrastructure and protein chemistry of the membrane skeleton, there are few direct tests of the in vivo functions of the constituent proteins of the membrane skeleton. Recent advances in molecular genetic analysis provide techniques for studying the membrane skeleton and its components in vivo. Considered here in brief detail are a variety of genetic techniques that have already been used to study cytoskeletal proteins. These techniques should also prove useful for future study of the membrane skeleton.

Animals↗
PubMed2001

[Sensitivity, specificity and predictive value of the genetic analysis of SLC3A1 gene variants used for the diagnosis of cystinuria among the spanish population].

OBJECTIVE: To test the clinical usefulness of the analysis of point mutations R452W, M467T, 114C > A, 231T > A, 1136 + 3delT and 1332 + 7T > C in the gene SLC3A1 as well as their possible haplotypes used for the diagnosis of cystinuria in the mediterranean spanish population. MATERIAL AND METHODS: A total of 48 patients with cystinuria, 44 relatives without cystinuria, and 81 healthy controls were studied. A genetic analysis was conducted in order to identify variants in the gene SLC3A1. The sensitivity, specificity, and predictive value for each genetic variant and for the possible haplotypes were calculated. RESULTS: The specificity of mutations M467T, R452W, and 231T > A used for the diagnosis of cystinuria in the general population or for the different subtypes of cystinuria in involved families, was higher than 90%; nevertheless, none of the analysed variants reached a sensitivity higher than 80%. In the study of haplotypes, the highest sensitivity was obtained with the haplotype CTTT (83.8%); however, its specificity and predictive value were low (20.6% and 53.4%, respectively). CONCLUSIONS: The studied genetic variants did not show enough clinical usefulness.

Amino Acid Transport Systems, Basic↗
PubMed2006

Inferring population history from fine-scale spatial genetic analysis in Oryza rufipogon (Poaceae).

Determining the genetic structure of an in situ conserved population can provide insight into the dynamics of population genetic processes associated with successful plant conservation. We used 21 microsatellite loci to analyse the genetic relationships among individuals (n = 813) collected from a small Oryza rufipogon population conserved since 1993 in Hunan Province of China. The analysis revealed four distinct genetic subpopulations (F(ST) = 0.145) without geographic isolation. One subpopulation was composed of possible introgressed individuals, two subpopulations were composed of seed recruits and their descendants, and the fourth subpopulation consisted of reintroduced individuals, seed recruits and their descendants. Positive spatial genetic structures were detected by spatial autocorrelation statistics at the population (c. 63 m) and subpopulation levels (11-30 m), but the degree of autocorrelation was stronger at the population level. These results showed that prejudging the cryptic structure is important before autocorrelation analysis for the entire population. Our study suggests that population history can be a significant determinant on population structure for plant restoration projects.

China↗
PubMed1990

[Genetic analysis of Spanish families with myotonic dystrophy].

Myotonic dystrophy (MD) is the most common form of muscular dystrophy in adult life, with a clinical prevalence of 5.5/100,000, being the gene prevalence of 13.5. The disease is autosomal dominant with variable expressivity, existing a congenital form with a severe prognosis. Recent genetic studies revealed that the DM gene is localized in the chromosome's 19 proximal long arm and with recombinant DNA techniques, several polymorphic markers have been isolated near the gene, the closet being Apo-CII, LDR 152 and p 4.1. We have studied clinically, electrophysiologically and by genetic analysis 6 families with 32 individuals. We have diagnosed the disease in 16 individuals and after the molecular analysis, the DM gene was totally excluded in 6 clinically healthy individuals. In our preliminary study, the use of Msp I/p 4.1, Bgl II/LDR 152 y Ban I, Bgl I, Taq I/Apo-CII c-DNA and genomic was found the most informative combination. These molecular analysis seem to be very useful as a complement to the diagnosis of myotonic dystrophy.

Adolescent↗
PubMed1988

Classical genetic analysis of GABA-related seizures.

Differences in resistance to 3-mercaptopropionic acid (MP)-induced seizures exist between DBA/2Ibg and C57BL/6Ibg inbred strains of mice; C57BL/6Ibg mice are more resistant to MP-induced seizures. To determine the mode of inheritance for seizure resistance, a classical genetic analysis was conducted using these two parental strains, their F1, F2, and backcross generations. Latencies to seizure onset and tonus after intraperitoneal (IP) injections of MP (25-40 mg/kg) were quantified. For all populations mean latencies to onset and tonus decreased in a dose dependent manner with the hybrid generations exhibiting a seizure resistant phenotype resembling the C57BL/6Ibg strain. In general, female mice were less resistant to MP-induced seizures than males; however, a significant degree of resistance was retained by the C57BL/6Ibg females and their female progeny. A quantitative assessment of the pattern of inheritance for seizure resistance using a weighted least-squares regression approach indicated that an additive-dominance model explained latency to seizure onset data at 25, 35 and 40 mg/kg. However, at 30 mg/kg, the model required the addition of an epistatic parameter to best describe mean scores at this dose. The results of these analyses suggest that resistance to MP-induced seizures is transmitted in a dominant manner.

3-Mercaptopropionic Acid↗
PubMed2003

Familial aggregation of components of the multiple metabolic syndrome in the Framingham Heart and Offspring Cohorts: Genetic Analysis Workshop Problem 1.

BACKGROUND: The multiple metabolic syndrome is defined by a clustering of risk factors for cardiovascular disease. We sought to evaluate the familial correlations of the components of the syndrome using data from the Framingham Heart Study original and offspring cohorts as provided for the Genetic Analysis Workshop 13. Measures of plasma cholesterol (total and HDL), body mass index (BMI), and systolic blood pressure were used from selected calendar years of exams. Familial correlations were calculated using FCOR in S.A.G.E. RESULTS: The sibling correlations were relatively high for all measures and exams, from 0.17 for systolic blood pressure to 0.27 for HDL cholesterol. The parent-child correlations were very similar, except for systolic blood pressure. The avuncular correlations were much smaller and the cousin correlations were even smaller. For HDL cholesterol the avuncular correlation was half the sibling correlation and the cousin correlation was half that again. Spousal correlations ranged from 0.07 for systolic blood pressure to 0.34 for BMI. Correlations were somewhat lower from 1984 to 1987 examinations than from 1971 to 1975 examinations, except for spousal correlations for systolic blood pressure and BMI. CONCLUSION: The results of the family pair correlations are suggestive of genetic determinants of lipid levels and BMI. These components have been shown to be predictive of cardiovascular disease as well as diabetes. Genes in common with each of the components might also influence development of cardiovascular disease and diabetes, both complex diseases.

Adult↗
PubMed1997

[Evaluation of cancer risk through genetic analysis?].

BACKGROUND: The recent literature of familial cancer, specifically related to germline mutations of RB1, p53, NF1, ATM, BRCA1, Mismatch repair genes and APC is reviewed. RESULTS AND CONCLUSIONS: Germline mutations do not relate to an increased tumor risk of any single tissue, but instead to spectra of neoplastic diseases. The genetic background plays a major role in modifying the cancer risk. Therefore, mass screening for mutations of single genes seems to be without practical value. Only in combination with an adequate and informative family history can molecular genetic analysis significantly support the care for the individual. Comparison of the data of patients inheriting germline mutations and the experience from the corresponding "knockout" mouse demonstrate that only the p53 and APC knockout mice are useful models of human disease.

Animals↗
PubMed1977

Behavior-genetic analysis of Phormia regina: conditioning, reliable individual differences, and selection.

Using proboscis extension (unconditioned response) to sucrose (unconditioned stimulus), individual blowflies (Phormia regina) were classically conditioned to saline and to water (conditioned stimuli) with sensitization controls, thus providing unique, independently replicated evidence both of learning in Diptera and of reliably measured individual differences. Directional and stabilizing selection have bred high and low performance lines markedly different from an unselected control line as a step in the analysis of behavior-genetic correlates. This replicates and extends previous selection analysis with improved conditioning technique. Also, some unwarranted claims of learning in Diptera are discussed.

Animals↗
PubMed2005

A genetic analysis of mancozeb resistance in Typhlodromus pyri (Acari: Phytoseiidae).

A field population of Typhlodromus pyri (Acari: Phytoseiidae) tolerant to mancozeb was selected in the laboratory. After 10 mancozeb selections the LC50 value for mancozeb was 73 times higher in the selected-10 strain compared to the standard susceptible strain. A genetic analysis using reciprocal crosses and backcrosses of female F1 progeny found no maternal effect. Resistance in the selected-10 strain was codominant in expression, dominance value was about -0.1. Backcrosses between F1 females and the susceptible strain indicate that the resistance to mancozeb could be principally conferred by a predominant gene, but additional factors would also be involved.

Animals↗
PubMed1995

[Genetic analysis and elaboration of principles for predicting malignant tumors in families of patients with stomach cancer and primary multiple malignant neoplasms].

The results of familial population analysis of stomach cancer and multiple primary malignant tumors (MPMTs) are presented. The data obtained provide evidence for the multifactorial nature of stomach cancer. Hereditary factors accounted for 32% of the general predisposition of individuals to stomach cancer. The age-related character of stomach cancer was established. Genetic heterogeneity of this tumor is suggested by the data obtained. Significant genetic commonness in the inheritance of stomach, colon, Genetic Analysis and Prognosis for Malignant Tumors in breast, endometrial, and ovarian cancer in families of MPMT patients was demonstrated on the basis of the obtained genetic correlations between tumor types in MPMT patients and solitary tumors in members of their families. The greatest genetic load was shown for families of MPMT patients, as compared with families of patients with solitary tumors, the coefficient of MPMT inheritance being equal to 77.4%. The data on the genetic character of stomach cancer and MPMT formed the basis for the identification of criteria for developing methodological approaches to the screening of individuals from risk groups to facilitate early diagnosis and prevention of cancer.

Age Distribution↗
PubMed1992

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.

Cystic fibrosis is the most common autosomal disorder in the Caucasian population. Since the description of the major mutation of this disease in 1989, over 150 of additional mutations have been identified in the CFTR gene. This update summarizes the different mutations identified and reported before March 15 by members of the international Cystic Fibrosis Genetic Analysis Consortium. The report includes information on DNA sequence variations found in the gene.

Amino Acid Sequence↗
PubMed2001

Clinical and genetic analysis of Staphylococcus aureus nasal colonisation and exit-site infection in patients undergoing peritoneal dialysis.

Few data exist regarding the clonal identity of Staphylococcus aureus (SA) that colonises the nostrils and causes exit-site infections in peritoneal dialysis patients. Nasal and exit-site swabs were taken monthly from 41 patients undergoing peritoneal dialysis, and a genetic analysis of SA isolates was performed by pulsed-field-gel electrophoresis. When SA was identified at the exit-site, the clonal identity of nasal and exit-site isolates was demonstrated. In 50% of the SA carriers, nasal isolates were genetically constant over time; in the other 50% a change of colonising SA strains was observed. The risk of exit-site infection was identical in both groups.

Adult↗
PubMed2004

Population genetic analysis of ascertained SNP data.

The large single nucleotide polymorphism (SNP) typing projects have provided an invaluable data resource for human population geneticists. Almost all of the available SNP loci, however, have been identified through a SNP discovery protocol that will influence the allelic distributions in the sampled loci. Standard methods for population genetic analysis based on the available SNP data will, therefore, be biased. This paper discusses the effect of this ascertainment bias on allelic distributions and on methods for quantifying linkage disequilibrium and estimating demographic parameters. Several recently developed methods for correcting for the ascertainment bias will also be discussed.

Bias↗
PubMed1975

Parasexual genetic analysis of aggregation-deficient mutants of Dictyostelium discoideum.

One hundred and thirty-nine independent, nitrosoguanidine-induced mutants blocked early in development were isolated in two haploid strains of D. discoideum. Forty of these developmental mutants were completely aggregation-deficient on bacterial lawns (Class I mutants) and these mutants were selected for parasexual genetic analysis. By fusing the Class I mutants with developmentally-competent strains the developmental mutations in 39 of these mutants were shown to be recessive; the remaining mutation appeared to be partially dominant. Complementation analysis of the developmental mutations in the Class I strains identified 5 complementation groups. Statistical analysis of the complementation data suggests that there are approximately 40 genes in this organism which will completely block aggregation when mutated and perhaps as many as 150 genes involved in some aspect of the aggregation process. Linkage analysis of 18 Class I developmental mutations revealed that 10 of these mutations map in linkage group II at a minimum of 5 loci.

Cell Aggregation↗
PubMed2001

Adenocarcinoma arising in gastric heterotopic pancreas: clinicopathological and immunohistochemical study with genetic analysis of a case.

Heterotopic pancreas in the stomach is a relatively common congenital condition, but the risk of malignant transformation is extremely low. In this study, we describe a case of adenocarcinoma arising from a gastric heterotopic pancreas and we consider its morphological and immunohistochemical features and genetic analysis, in order to examine its histogenesis. This unusual sequela was seen in a 57-year-old woman. Image studies showed a protruding lesion with a central ulcer located in the lesser curvature from the angle to the body of the stomach. A biopsy specimen confirmed this lesion as adenocarcinoma before total gastrectomy. The tumor showed mixed patterns of solid neoplastic-cell proliferation and moderately differentiated glandular structures, and also showed transitional lesions to obvious malignancy, that is, dysplasia, or adenocarcinoma in situ. Neoplastic cells had positive immunoreactivity for carbohydrate antigen (CA) 19-9, mucin (MUC) 1, and insulin, and the mutant allele-specific amplification method revealed a point mutation at K-ras codon 12 (GGT [Gly]-->GAT [Asp]), which is the most common mutational change observed in patients with pancreatic carcinoma. The features of the present case provide clear evidence that this tumor originated from heterotopic pancreatic tissue rather than from gastric epithelium.

Adenocarcinoma↗
PubMed2001

[A case of familial hypokalemic periodic paralysis with hyperuricemia during paralytic attack and genetic analysis of the pedigree].

We reported a 13-year-old boy and his family with hypokalemic periodic paralysis. He showed marked hyperuricemia during his paralytic attack, although neither ischemic forearm exercise test nor bicycle-ergometer exercise test revealed myogenic hyperuricemia when he was free from paralysis. Genetic analysis was performed to the proband and his affected elder brother, mother, and, maternal grand mother. We found the Arg528His mutation of CACNL1A3 gene in all the patients examined. The severity of the attacks and the age of onset did not vary in the different generations, and male predominancy was not evident in this family.

Adolescent↗
PubMed2005

Histologic and genetic analysis of the gallbladder in patients with occult pancreatobiliary reflux.

Recent studies have suggested that pancreatobiliary reflux occurs not only in patients with pancreaticobiliary maljunction (PBM), but also in patients without PBM and thereby possibly causes biliary tract disease. In this study, we examined prospectively histological findings and genetic analysis in the non-cancerous epithelium of the gallbladder in patients with high biliary amylase levels and a normal pancreaticobiliary junction. Ki-67 L.I of non-cancerous epithelium was 14.4 and 3.5% in the high biliary amylase levels (HBA) group and the low biliary amylase levels (LBA) group, respectively (p<0.01). There was no case showing p53 overexpression regardless of amylase levels of bile. COX-2 expression was detected in the cytoplasm of non-cancerous epithelium in 9 cases in the HBA group and 5 cases in the LBA group. The positive rate of COX-2 overexpression was significantly higher in the HBA group than in the LBA group (p<0.05). COX-2 overexpression cases showed higher Ki-67 L.I than COX-2 non-overexpression cases (21.2 vs. 7.9%, p<0.05). Mutations of the K-ras gene were detected in non-cancerous gallbladder epithelium in 3 cases, only in the HBA group. Patterns of K-ras mutation at codon 12 were GAT in two cases and GTT in one case. Three cases showing COX-2 overexpression also showed K-ras mutation. These three cases showing K-ras mutation had comparatively high cellular proliferative activity (28, 26 and 14%). In conclusion, our data suggest that occult pancreaticobiliary reflux, especially with high biliary amylase levels, represents an important risk factor for the development of gallbladder carcinoma as well as PBM, and it may be possible to detect patients with such high biliary amylase levels by ERCP.

Adult↗