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PubMed1984

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: V. Genetic polymorphism of cytosol 31k polypeptide.

Three different electrophoretic types (1-1, 2-1 and 2-2) of a human cellular polypeptide with molecular weight of 31 000 have been identified by the analysis of PHA-stimulated peripheral blood lymphocyte proteins using high resolution two-dimensional gel electrophoresis. Family and population studies indicate that the three phenotypes of the polypeptide are determined by two common alleles at a single autosomal locus. The 31k polypeptide appears to be present as a monomer in the cytosol in a wide range of different cell types, including permanent lymphoblastoid cell lines, fibroblasts and HeLa cells. In an individual with the 31k polypeptide type 2-2, the phenotypes of adenosine deaminase and uridine monophosphate kinase were both type 1. These data indicate that the 31K polypeptide is a new polymorphic protein encoded by a new autosomal locus. It is proposed that the polypeptide and its locus be temporarily designated cytosol 31k polypeptide (C31k polypeptide) and C31P, respectively. In a Japanese population, the gene frequencies of C31P1 and C31P2 were 0.940 and 0.060, respectively. The C31k polypeptide type 2-2 appears to be a molecular weight variant as well as a charge variant.

Blood Proteins↗

PubMed1997

Polymorphic molecular markers from anonymous nuclear DNA for genetic analysis of populations.

A simple method is presented for developing polymorphic, anonymous DNA markers suitable for population genetic studies. Anonymous DNA fragments are screened for sequence variability using a common mutation detection technique (single strand conformation polymorphism analysis; SSCP) and locus-specific PCR primers are designed for polymorphic DNA fragments. Detection of the markers by SSCP analysis coupled with sequence analysis of SSCP variants allows rapid screening while retaining information about the genealogical relationship among alleles. Variability detected for six markers was assessed in rainbow trout Oncorhynchus mykiss and was compared with variability detected by similar analysis of intron loci. Between three and 12 distinct alleles were observed at each marker locus, and average within-population heterozygosity ranged from 0.12 to 0.44. Advantages and limitations of the methodology for population genetic analysis are discussed.

Alleles↗

PubMed2026

Shared Genetic Basis, Biological Function and Causal Relationship Between Sleep Traits and Hypothyroidism: Evidence from a Comprehensive Genetic Analysis.

BACKGROUND: This research attempts to clarify whether there are any genetic similarities between sleep traits and hypothyroidism based on publicly accessible large-scale genomewide association studies. METHODS: The methodology included colocalization analysis, cross-phenotype association analysis, and linkage disequilibrium score regression analysis to find common genetic overlap. Through tissue function specificity and functional mapping, we were able to identify the shared genetic level. Genetic instrumental factors were used for causal inference in two-sample univariate and multivariable Mendelian randomization analyses. RESULTS: A hereditary correlation between hypothyroidism and napping during the day and getting up in the morning (rg= -0.0982, P= 0.0007; rg= -0.101, P= 0.0001). MAGI3, and HLA-DRB1 BX296568.1 may be potential targets for shared treatments. Colocalization and tissue-specific analysis demonstrated that the common genes and SNPs were identified in the thyroid, lung, brain, and lymphatic tissues. Functional analysis emphasized the importance of these common genes in processes like as protein transport, inflammatory response, and MHC class II protein synthesis. Furthermore, an association has been established between hypothyroidism and sleep duration (IVW, OR 1.5208; 95% CI 1.1142-2.0758, P=0.0082) and getting up in the morning (IVW, OR 1.8375; 95%CI: 1.4502-2.3284, P=4.73E-07). Furthermore, the reverse MR analysis revealed no causal connection between aberrant sleep traits and hypothyroidism. The enduring impact of insomnia on hypothyroidism persists despite controlling for alcohol consumption and smoking habits. CONCLUSION: Certain genetic correlations between sleep traits and hypothyroidism have been emphasized. These findings may elucidate the origin of comorbidity and have implications for future clinical trials.

Humans↗

PubMedDate not supplied

[Molecular-genetic analysis of wheat (T. aestivum L.) genome with introgression of Ae. cylindrica Host genetic elements].

Wheat-aegilops hybrid plants Triticum aestivum L. (2n = 42) x Aegilops cylindrica Host (2n = 28) were investigated with using microsatellite markers. In two BC1F9 lines some genome modifications connected with losing DNA fragments of initial variety or appearing of Aegilops genome elements were detected. In some investigated hybrids new amplicons lacking in parental plants were found. Substitution of wheat chromosomes for aegilops chromosomes was not revealed. Analysis of microsatellite loci in BC2F5 plants showed stable introgression of aegilops genetic elements into wheat; elimination of some transferred aegilops DNA fragments in the course of backcrossing; decreasing size of introgressive elements after backcrossing. Introgressive lines were classified according to genome changes.

Alleles↗

PubMed1988

Genetic analysis of larval competition in Drosophila melanogaster.

A chromosome assay was employed to determine the genetic basis of the competitive ability of the larvae of Drosophila melanogaster when competing for a controlled amount of food. The effects of increasing stress due to intra- and inter-genotypic competition were analysed using a yield-density regression analysis producing estimates of the absolute performance at a standard reference density (e-values), the magnitude of intra-genotypic competition and the inter-genotypic competitive effect of one genotype on another. A distinction was made between the Sensitivity and the Pressure components of inter-genotypic competition. The probability of survival and mean adult weight were used as measures of competitive success. The genetic analysis revealed high levels of heterosis for the e-values and inter-genotypic pressure, with correspondingly high inter-chromosomal interactions. Inter-genotypic sensitivity was less consistently heterotic and less epistatic. All dominance was directed towards a competitively superior genotype and both major autosomes were involved in the determination of competitive ability with the greater effect residing on the third chromosome. There was evidence of early non-competitive larval mortality in one of the two sets of substitution lines investigated and the effect of this on the estimation of the genetic parameters is discussed.

Animals↗

PubMed1984

Genetic analysis of nucleoside transport in Leishmania donovani.

Genetic dissection of nucleoside transport in Leishmania donovani indicates that the insect vector form of these parasites possesses two biochemically distinct nucleoside transport systems. The first transports inosine, guanosine, and formycin B, and the second transports pyrimidine nucleosides and the adenosine analogs, formycin A and tubercidin. Adenosine is transported by both systems. A mutant, FBD5, isolated by virtue of its resistance to growth inhibition by 5 microM formycin B, cannot efficiently transport inosine, guanosine, or formycin B. This cell line is also cross-resistant to growth inhibition by a spectrum of cytotoxic analogs of inosine and guanosine. A second parasite mutant, TUBA5, isolated for its resistance to 20 microM tubercidin, cannot take up from the culture medium radiolabeled tubercidin, formycin A, uridine, cytidine, or thymidine. Both the FBD5 and the TUBA5 cell lines have about a 50% reduced capacity to take up adenosine, indicating that adenosine is transported by both systems. A tubercidin-resistant clonal derivative of FBD5, FBD5-TUB, has acquired the combined biochemical phenotype of each single mutant. The wild-type and mutant cell lines transport purine bases and uracil with equal efficiency. Mutational analysis of the relative growth sensitivities to cytotoxic nucleoside analogs and the selective capacities to take up exogenous radiolabeled nucleosides from the culture medium have enabled us to define genetically the multiplicity and substrate specificities of the nucleoside transport systems in L. donovani promastigotes.

Animals↗

PubMed1995

Polygenic mutation in Drosophila melanogaster: genetic analysis of selection lines.

We have conducted genetic analyses of 12 long-term selection lines of Drosophila melanogaster derived from a highly inbred base population, containing new mutations affecting abdominal and sternopleural bristle number. Biometric analysis of the number of effective factors differentiating the selected lines from the base inbred indicated that with the exception of the three lines selected for increased number of abdominal bristles, three or more mutations contributed to the responses of the selection lines. Analysis of the chromosomal distribution of effects revealed that mutations affecting abdominal bristle number occurred on all three major chromosomes. In addition, Y-linked mutations with effects ranging from one to three bristles occurred in all three lines selected for decreased number of abdominal bristles, as well as in one line selected for increased abdominal bristle number. Mutations affecting sternopleural bristle number were mainly on the X and third chromosomes. One abdominal and one sternopleural selection line showed evidence of a segregating lethal with large effects on bristle number. As an indirect test for allelism of mutations occurring in different selection lines, the three lines selected in the same direction for the same trait were crossed in all possible combinations, and selection continued from the F2 hybrids. Responses of the hybrid lines usually did not exceed those of the most extreme parental lines, indicating that the responses of the parental lines may have been partly due to mutations at the same loci, although other interpretations are possible.

Abdomen↗

PubMed1990

[Genetic analysis of the structure of predisposition to diabetes mellitus. IV. Population-genetics study of two types of diabetes mellitus with onset at age 20-40].

It was found that age-specific morbidity risks of type I diabetes mellitus (DM I) increased from the age of 0-4 yrs (0.012-0.013%) to the age of 10-14 yrs (0.04-0.045%) and then slightly decreased to 0.02-0.03%, remaining at this level up to 40 yrs. The "cumulative" morbidity risk of DM I (population risk of development of DM I for each born individual, irrespective of family history) was found to be 0.2% for the age from 0-4 to 40 yrs. Assuming the age-specific morbidity risks of DM I after the age of 40 yrs to be the same as that at 40 yrs (0.02-0.03%), the "cumulative" morbidity risk for this type of DM from birth to 75 yrs old was estimated to be 0.36-0.44%. First incidences of DM II in the population were only observed in 20 yrs olds. The morbidity risk level for DM II at the age 20-24 yrs was found to be lower than that for DM I at this age. The risk was about the same level both for DM I and for DM II at the age 25-34 yrs, the morbidity risk levels for DM II after 35 yrs exceeding that for DM I. The "cumulative" risk of DM II by the age of 40 yrs was 0.1% for men and 0.15% for women. Analysis of familial data revealed statistically significant increase in recurrent morbidity risk in relatives only for the types of DM presented in probands.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed1989

[Genetic analysis of familial polyposis coli. Linkage analysis and loss of heterozygosity in colorectal tumors of FPC by RFLP analysis].

Familial polyposis coli (FPC) is a genetic disorder, transmitted as an autosomal dominant trait, characterized by numerous colorectal adenomas. If untreated, most patients may develop colorectal adenocarcinomas. We investigated linkage between FPC and several DNA markers, and loss of heterozygosity in colorectal tumors by using RFLP analysis. We examined 15 pedigrees for linkage analysis and 31 FPC patients including 16 adenocarcinomas and 43 adenomas and 15 non-polyposis colorectal carcinomas (NPCC) for searching loss of heterozygosity. 1. Significant linkage was not observed with 26 polymorphic DNA probes. Maximum lod score of 0.301 at a recombination fraction of 0.0 was observed with the marker D5S71, which was reported to be tightly linked to the major gene for FPC in Caucasian. 2. Loss of heterozygosity was observed at the loci on 17 chromosomes in colorectal carcinomas from FPC patients, and on 6 chromosomes in NPCC. Thus, chromosomes in FPC patients may be unstable compared with those in patients with NPCC. 3. Frequent loss of heterozygosity in colorectal carcinomas from FPC patients was observed on chromosomes 5 (20%), 14 (22%), 17 (43%) and 22 (38%), and was also observed on chromosomes 5 (33%), 14 (38%), 17 (27%) and 22 (15%) in NPCC. These results suggest that tumor suppression genes may locate on these chromosomes. 4. Tumor suppression genes may play a role by dose dependent way.

Adenocarcinoma↗

PubMed2006

Application of oligonucleotide arrays to high-content genetic analysis.

The scope of single nucleotide polymorphism genotyping for genetic association studies has expanded recently from the use of relatively small numbers of candidate genes and markers, to include hypothesis-free, whole-genome approaches using hundreds of thousands of polymorphisms. The ability to perform such large-scale association studies has been dependant on the development of highly parallel and cost-effective genotyping platforms, of which those based on oligonucleotide arrays have proved to be the most scalable and widely adopted. It is to be expected that the new array-based genotyping methods will not only greatly expand the scope of genetic studies, but, as further content is added to arrays, will also form part of an integrated set of DNA, RNA and proteomic analyses enabling the detailed, multilayered study of complex disease-linked phenotypes.

Base Sequence↗

PubMed1994

Genetic analysis of atopy and asthma as quantitative traits and ordered polychotomies.

Traits related to atopy and asthma were defined in a random cohort of 131 families with three or more children. Correlation analysis provides no evidence of imprinting, maternal effect, or a major role of environment shared by sibs. Commingling analysis favours more than one distribution, the upper one being common for asthma and very common for atopy. Segregation analysis of rank-transformed variables provides only equivocal evidence of major genes against a polygenic background but suggests that such genes (if present) are individually common and not of large effect. Segregation analysis under a two-locus model gives consistent results with minimal distributional assumptions. To enter combined segregation analysis we favour a restricted model in which the major locus is additive on the liability scale and the pseudopolygenic modifier locus accounts for at least half the genetic variance. Total IgE and bronchial reactivity are proposed for meta-analysis of atopy and asthma respectively. Genetic analysis of complex inheritance is discussed and it is shown that allelic association with random loci is not a feasible approach.

Adolescent↗

PubMed1988

Molecular genetic analysis of bacterial plasmid promiscuity.

The molecular genetic basis of the promiscuity of the wide host range conjugative IncP-1 alpha plasmids has been investigated by transposon mutagenesis and by the construction of minireplicons. The former has identified the origin of plasmid vegetative replication, the replication genes needed for initiation of plasmid replication, the DNA primase gene and a gene encoding a polypeptide of 52 kDa and mapping near the origin of plasmid transfer as all contributing to promiscuity. Minireplicon constructions confirm this conclusion but in addition establish that the origins of replication, transfer and other genomic regions produce complex interactions with respect to host range. DNA sequence analysis within the origin of replication show that the first direct repeat of the cluster of five repeats and sequences immediately 5' to it appear to be required in some (Escherichia coli) but not in other (Pseudomonas aeruginosa) hosts for plasmid replication.

Bacteria↗

PubMed1998

Genetic analysis of the G and P genes in ungulate respiratory syncytial viruses by RNase A mismatch cleavage method.

The G and P genes of bovine, ovine and caprine respiratory syncytial (RS) viruses were analyzed by RNase A one-dimensional fingerprinting, using A 51908 as the reference strain. Antisense G or P RNA probes of bovine RS virus strain A 51908 were hybridized to total RNA extracted from bovine turbinate cells infected with bovine, ovine or caprine RS virus strains. The RNA:RNA heteroduplexes were digested with RNase A and the resistant products were analyzed by gel electrophoresis. Comparative analysis of the cleavage patterns revealed heterogeneity among bovine, ovine and caprine RS virus isolates. Ovine RS virus strains generated RNA cleavage patterns more distantly related to the bovine or caprine RS virus strains, particularly in the G gene. Statistical analysis of the results obtained indicated that genetic differences between bovine and ovine viruses were larger, compared with the ones among bovine strains themselves. The same analysis also revealed a close genetic relation among bovine and caprine strains. These results are discussed in terms of ungulate RS virus genetic variation and vaccine development.

Animals↗

PubMed2001

Genetic analysis of synphilin-1 in familial Parkinson's disease.

alpha-Synuclein is present in Lewy bodies of patients with both sporadic and familial Parkinson's disease. However, pathogenic mutations Ala30Pro and Ala53Thr in alpha-synuclein are rare causes of disease. Synphilin-1 has been demonstrated to associate with alpha-synuclein and promote the formation of cytosolic inclusions in vitro. Two-point genetic linkage analysis of a dinucleotide repeat within the synphilin-1 gene initially implicated this locus as a cause of Parkinson's disease in three of nine families. However, subsequent haplotype, sequencing, and association analyses in these three families and an independent case-control series suggest that variability within the locus does not confer susceptibility to Parkinson's disease.

Aged↗

PubMed1982

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 4. Genetic polymorphism of cytosol 100k polypeptide.

We describe a genetic polymorphism of a human cellular polypeptide with mol. wt. 100,000, detected in peripheral blood lymphocytes by high resolution two-dimensional electrophoresis. Three different electrophoretic types (1-1, 2-1, and 2-2) of the polypeptide have been identified. Family and population studies indicate that the three phenotypes of the polypeptide are determined by two common alleles at a single autosomal locus. The polypeptide occurs in the cytosol and is one of the abundant polypeptides of B-lymphoblastoid cells, T-lymphoblastoid cells, fibroblasts, and HeLa cells. The data indicate that the cytosol polypeptide with mol. wt. 100,000 shows a genetic polymorphism determined by a new autosomal locus. It is proposed that the polypeptide and its locus be temporarily designated cytosol 100k polypeptide (C100k polypeptide) and C100P, respectively. In a Japanese population, the gene frequencies of C100P1 and C100P2 were 0.907 and 0.093, respectively.

Alleles↗

PubMed1986

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis. VIII. Genetic polymorphism of cytosol polypeptide with molecular weight of 20,000.

We describe a genetic polymorphism of cytosol polypeptide with mol. wt. of 20,000 detected in lymphocytes and erythrocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, and 2-2) of the polypeptide have been identified in a Japanese population. Family studies indicate that the phenotypes are determined by two common alleles at a single autosomal locus. The polypeptide is present in the cytosol of various kinds of cells and is abundant in erythrocytes. The data on a gel filtration of the erythrocyte cytosol proteins on a Sephadex G-100 column suggest that the polypeptide exists as a dimer in cells. In nine out of 79 individuals, the phenotypes of the polypeptide were different from those of glyoxalase 1 (GLO1) which has similar properties in subunit size, cell distribution, and allele frequencies. These data indicate that the polypeptide with mol. wt. of 20,000 is a new polymorphic cellular polypeptide. We propose that the polypeptide be temporarily designated as cytosol polypeptide with mol. wt. of 20,000 (CP20) and that the gene for CP20 be designated as CP20. The gene frequencies of two common alleles (CP20(1) and CP20(2) are 0.955 and 0.045, respectively, in a Japanese population.

Blood Proteins↗

PubMed1985

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis. VII. Genetic polymorphism of cytosol polypeptide with molecular weight of 38,000.

We describe a genetic polymorphism of cytosol polypeptide with mol. wt. of 38,000 detected in phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, 2-2) of the polypeptide have been identified in a Japanese population. Family and population studies indicate that three phenotypes are determined by two common alleles at a single autosomal locus. Since the polypeptide is mainly present in cytosol of cells, we propose that the polypeptide be temporarily designated as cytosol polypeptide with mol.wt. of 38,000 (CP38) and that the gene for CP38 be designated as CP38. The gene frequencies of two common alleles (CP38(1) and CP38(2)) are 0.899 and 0.101, respectively, in a Japanese population. The data on gel filtration of cytosol proteins on a Sephadex G-100 column suggest that CP38 exists as a dimer in the cytosol. CP38 was observed in the wide range of different cells, including B-lymphoblastoid cells, adult skin fibroblasts, HeLa cells, and erythrocytes. In 11 out of 72 individuals, the phenotypes of CP38 were different from those of adenosine deaminase which is similar to CP38 in subunit size, cell distribution, and allele frequencies. These data indicate that CP38 is a new polymorphic polypeptide encoded by an autosomal locus.

Alleles↗

PubMed1984

Genetic analysis of essential genes in the ftsE region of the Escherichia coli genetic map and identification of a new cell division gene, ftsS.

Several conditional lethal mutants of Escherichia coli have been analysed genetically using generalized transduction and lambda transducing vectors. Three temperature-sensitive ftsE mutants were found as was a cold-sensitive ftsE mutant. A new gene was found which mapped close to ftsE, namely ftsS. Both cell division genes map close to the gene which controls the heat-shock regulon (htpR).

Cell Division↗