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At least 937 records · Page 52Linked to original sources
PubMed1982

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 2. Genetic polymorphism of lymphocyte cytosol 64K polypeptide.

We describe a genetic polymorphism of human lymphocyte cytosol major polypeptide with mol. wt. 64,000, detected in peripheral blood lymphocytes by high resolution two-dimensional electrophoresis. Three different electrophoretic types (1-1, 2-1, 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 predominant in peripheral blood lymphocytes, B-lymphoblastoid cells, T-lymphoblastoid cells, lymph node, and spleen. The polypeptide has not been detected HeLa cells, fibroblasts, erythrocytes, serum, and cerebrum. Traces of the polypeptide exist in liver, kidney, and skeletal muscle. It is proposed that the polypeptide and its locus be temporarily designated lymphocyte cytosol 64K polypeptide (LC64K polypeptide) and LC64P, respectively. In a Japanese population, the gene frequencies of LC64P1 and LC64P2 were 0.936 and 0.064, respectively. The data suggest that LC64P is a new locus, product of which shows genetic polymorphism and is associated with the function and/or the structure of lymphocytes.

Alleles↗
PubMed1994

Genetic analysis of HIV-1 isolates from Brazil reveals presence of two distinct genetic subtypes.

The spread of the human immunodeficiency virus type 1 (HIV-1) is by now virtually worldwide. An understanding of the genetic, biological, and immunological differences among isolates collected in different geographic locales is crucial for the development of globally effective vaccines. Here we report the genetic characteristics of 21 HIV-1 isolates from Brazil. The isolates were initially characterized using a heteroduplex mobility assay. The majority (17 of 21) were related to North American/European reference isolates of genetic subtype B. Four isolates belonged to a more recently identified genotype, termed subtype F. The subtype F sequences from Brazil are distinguishable in both gag and env from five other genetic subtypes of HIV-1 currently recognized. Like many locales, Brazil harbors more than one HIV-1 subtype.

AIDS Vaccines↗
PubMed1999

[Genetic analysis of familial prostatic cancer: localization of a gene predisposing to prostatic cancer (PCaP) on chromosome 1q 42.2-43].

OBJECTIVES: To conduct genetic linkage analysis in order to localize predisposition genes for hereditary prostate cancer (CaP), as various epidemiological studies have demonstrated a family aggregation in 15 to 25% of cases, and the development of hereditary forms in 5 to 10% of cases of CaP. MATERIAL AND METHODS: A genetic study on 47 French and German families included 122 patients and 72 subjects considered to be healthy after PSA assay. This study was conducted by linkage analysis of 364 microsatellite markers distributed throughout the genome (on average every 10 cM). RESULTS: Parametric and nonparametric linkage analysis identified a locus on chromosome 1q 42.2-43, which could be with a gene predisposing to CaP (called PCaP). The primary site was confirmed by several markers, using 3 different genetic models. The maximum LOD score (probability of linkage between the locus and the disease) on two-point analysis was 2.7 for the D1S2785 marker. Parametric and nonparametric multipoint analysis provided an HLOD score and an NPL score of 2.2 and 3.1, respectively (with P = 0.001). Heterogeneity analysis with calculations of LOD scores by multipoint analysis estimated that up to 50% of hereditary CaPs were related to this locus, with a heterogeneity probability of 157/1. Analysis of a subgroup of 9/47 families characterized by early onset CaP (before the age of 60 years) confirmed the very high probability of localization of a predisposition gene at locus 1q42.2-43 for these families (multipoint LOD score and NPL score of 3.31 and 3.32, respectively; with P = 0.001). CONCLUSION: The identification of predisposition genes will eventually allow identification within certain families of those subjects who have inherited the genetic abnormality and who therefore present a high risk of CaP. It will then be possible to perform targeted screening of CaP in order to diagnose CaP as early as possible.

Adult↗
PubMed2005

[Genetic analysis of hematopoietic neoplasms].

Now dozens of genetic abnormalities have been identified in leukemias and lymphomas mainly through breakpoint analyses of the chromosome translocations recurrently observed in these tumors. After analyses on most of the major chromosome translocations have been completed, the current interests of genetic researches on hematopoietic tumors are unbalanced chromosome abnormalities that accompany gene deletions and amplifications among a variety of genetic mutations. In this regard, array based comparative genomic hybridization (CGH) and related techniques provide robust measures that enable high throughput genome-wide estimations of copy number changes for a large number of tumor samples. With these and other innovative techniques, identification of relevant genes for leukemogenesis and lymphomagenesis is being accelerated to provide more comprehensive understandings on development of these hematopoietic neoplasms.

Humans↗
PubMed1982

A genetical analysis of diversity and asymmetry in finger ridge counts.

The genetics of asymmetry and diversity of finger ridge counts in man has been examined by jointly regressing the individual counts of each hand on to the mean values summed over left and right hands in a sample of twins. The resulting asymmetry terms are largely under environmental control but with a small significant genetic component. The diversity items show a larger degree of genetic control with a suggestion of dominance or additive X additive epistasis.

Dermatoglyphics↗
PubMedDate not supplied

Familial Wilms' tumor with neural elements: characterization by histology, immunohistochemistry, and genetic analysis.

Wilms' tumor (WT) is the most common renal malignancy of children. While most occur sporadically, a small percentage are familial or occur as part of a developmental syndrome. Classic WTs exhibit a triphasic histologic pattern composed of blastema, epithelium, and stroma. Occasionally, heterologous elements may also be observed. In this study we investigated a series of four WTs that occurred within a single familial aggregate and contained focal areas of neural differentiation. The tumors were evaluated histologically for the presence of neural elements and immunohistochemically for expression of neural-related markers. Genetic linkage analysis was performed on 3 of the 4 WTs. In addition to the classic triphasic histology, the WTs contained tumor rosettes (4/4), ganglion cells (2/4), foci of ganglioneuromatous differentiation (2/4), and anaplasia (1/4). Staining for chromogranin, S-100, synaptophysin, vimentin, and neuron-specific enolase was positive in all 4 tumors within the areas of neural differentiation whereas staining for CD99 (013) and glial fibrillary acidic protein was negative. Linkage analysis studies suggest that the familial predisposition gene segregating in this family is at 19q13.4. To our knowledge, this is the first reported series of WTs with neural differentiation that occurred within a single family aggregate. Genetic linkage analysis of this family is consistent with linkage to the FWT2 WT predisposition gene at 19q13.4. We propose that these tumors may represent a unique manifestation of tumor susceptibility in this family.

Biomarkers, Tumor↗
PubMed2003

Genetic analysis of radiation-associated rectal cancer.

Genetic aberrations in radiation-associated colorectal cancer have not been studied in detail. We analyzed genetic aberrations in five rectal cancers that developed long after radiotherapy had been performed for cervical cancer. Microsatellite instability (MSI) in tumors was examined at five loci: D2S123, D3S966, TP53, DCC, and BAT26. Mutation of simple repeat sequences within the hMSH3, BAX, and transforming growth factor Beta type II receptor ( TGFBetaRII) genes was examined by polymerase chain reaction and single-strand conformation polymorphism (PCR-SSCP). Mutation of p53 exons 5-8 was examined by PCR-SSP and direct sequencing. Mutations of the K- ras gene were analyzed by two-step PCR. No MSI was found in tumor specimens at any of the loci examined, and no mutations in the target genes were observed. K- ras mutation was detected in two carcinomas, but not in their irradiated normal mucosa, while p53 mutation was observed in another two carcinomas, but not in their irradiated normal mucosa. Our results suggest that the radiation-associated rectal carcinomas examined in this study did not develop through the mutator phenotype pathway; rather, tumorigenesis was probably mediated through the multistep carcinogenesis pathway.

Aged↗
PubMed1983

Genetic analysis of protein export in Escherichia coli.

Genetic studies on the secretion process in gram-negative bacteria have made considerable progress. Within the near future, such studies should lead to a detailed understanding of the important features of signal sequences and how they function. The cloning of the structural gene for an enzyme that cleaves signal sequences from precursors of secreted proteins will allow the genetic characterization of this locus and its function. Finally, the isolation and characterization of mutants that affect components of the cell's secretory apparatus are also under way. These mutants permit the detection of genes and their products that are involved in secretion. A combination of the genetic approaches and in vitro studies should lead to a picture of the details of passage of proteins through a membrane.

Bacterial Proteins↗
PubMed1992

Genetic analysis of picornaviruses.

During the past year, genetic studies of picornaviruses, vastly facilitated by the application of infectious picornaviral cDNAs and RNAs, have contributed to our understanding of the function of individual picornavirus polypeptides and to the genetic processes that operate in these small RNA viruses. Especially notable were the demonstrations that the RNA-dependent RNA polymerase may have a function in RNA synthesis as an uncleaved precursor polypeptide, and that a mutation in the polymerase can be complemented in trans, in contrast to data obtained from previously studied polymerase mutants. A new in vitro system, in which positive-strand synthesis, negative-strand synthesis and RNA packaging were all observed, will facilitate further studies into the mechanism of these processes.

Cell-Free System↗
PubMed1995

Alcohol and drug problems: a multivariate behavioural genetic analysis of co-morbidity.

Multivariate biometrical genetic analyses of self-report questionnaire items assessing problem alcohol and drug use were performed on data obtained from a sample of 438 volunteer twin pairs (236 monozygotic twin pairs, 247 dizygotic twin pairs). Additive genetic influences were moderate for all alcohol abuse items (21-46%), frequency of drug use (32%) and illicit drug use (32%). Prescribed drug use and debilitating drug use were largely environmentally determined (86% and 94%, respectively). The influence of environmental factors that influence all members of a family to the same degree (shared family environment) on each item was generally small (0-20%), whereas the influence of environmental factors unique to each family member (non-shared environment) comprised over half of the total variance on all items. Genetic factor analyses identified three uncorrelated common genetic factors. The first genetic factor appears to represent problems associated with alcohol and drug use, such as the inability to fulfil obligations at home, work or school. The second genetic factor is more specific to drug use and represents a general liability towards drug use, illicit or otherwise. The third genetic factor is specific to the alcohol use items only. The observed co-morbidity of alcohol and drug misuse can be attributed largely to a non-shared environmental factor common to both domains. Genetic co-morbidity appears to be limited to alcohol and substance misuse behaviours that interfere with normal daily functioning.

Adolescent↗
PubMed1986

Molecular genetic analysis of cAMP-dependent protein kinase.

Genetic evidence has been obtained indicating that the responsiveness of CHO cells to cAMP requires an intact cADepPK system. DNA carrying mutant RI and C subunit genes has been transferred to wild-type cells. Recipient cells carrying the DNA have been detected by selecting for expression of the phenotype for cAMP resistance. We are in the process of cloning a functional mutant RI subunit to use as a moveable genetic element that can confer cAMP resistance on recipient cells. This cloned gene should allow us to test hypotheses concerning the mechanism of cAMP regulation of transcription in mammalian cells.

Animals↗
PubMed1991

Genetic analysis of photosynthesis in Rhodospirillum centenum.

A genetic system has been developed for studying bacterial photosynthesis in the recently described nonsulfur purple photosynthetic bacterium Rhodospirillum centenum. Nonphotosynthetic mutants of R. centenum were obtained by enrichment for spontaneous mutations, by ethyl methanesulfonate mutagenesis coupled to penicillin selection on solid medium, and by Tn5 transposition mutagenesis with an IncP plasmid vector containing a temperature-sensitive origin of replication. In vivo and in vitro characterization of individual strains demonstrated that 38 strains contained mutations that blocked bacteriochlorophyll a biosynthesis at defined steps of the biosynthetic pathway. Collectively, these mutations were shown to block seven of eight steps of the pathway leading from protoporphyrin IX to bacteriochlorophyll a. Three mutants were isolated in which carotenoid biosynthesis was blocked early in the biosynthetic pathway; the mutants also exhibited pleiotropic effects on stability or assembly of the photosynthetic apparatus. Five mutants failed to assemble a functional reaction center complex, and seven mutants contained defects in electron transport as shown by an alteration in cytochromes. In addition, several regulatory mutants were isolated that acquired enhanced repression of bacteriochlorophyll in response to the presence of molecular oxygen. The phenotypes of these mutants are discussed in relation to those of similar mutants of Rhodobacter and other Rhodospirillum species of purple photosynthetic bacteria.

Bacteriochlorophylls↗
PubMed2000

Genetic analysis of bacteriophage-encoded cochaperonins.

Early genetic studies identified the Escherichia coli groES and groEL genes because mutations in them blocked the growth of bacteriophages lambda and T4. Subsequent genetic and biochemical analyses have shown that GroES and GroEL constitute a chaperonin machine, absolutely essential for E. coli growth, because it is needed for the correct folding of many of its proteins. In spite of very little sequence identity to GroES, the bacteriophage T4-encoded Gp31 protein and the bacteriophage RB49-encoded CocO protein are bona fide GroEL cochaperonins, even capable of substituting for GroES in E. coli growth. A major functional distinction is that only Gp31 and CocO can assist GroEL in the correct folding of Gp23, the major bacteriophage capsid protein. Conserved structural features between CocO and Gp31, which are absent from GroES, highlight their potential importance in specific cochaperonin function.

Bacterial Proteins↗
PubMed1998

Genetic analysis of three South African horse breeds.

Genetic variability at 7 blood-group and 10 biochemical genetic loci was examined in 3 South African horse breeds, the Nooitgedacht, Boerperd and Basuto Pony. Observed heterozygosity for these breeds was intermediate for domestic horses, with the highest heterozygosity in the Boerperd and the lowest in the Basuto Pony. The 3 breeds show greater genetic similarity to each other than to other domestic horse breeds. Compared to other breeds, the South African breeds show greater genetic similarity to breeds such as the Thoroughbred, Holstein, Trakehner and Hanovarian and also to North American breeds such as the Saddlebred, Standardbred and Morgan Horse.

Alleles↗
PubMed1978

NZB/WF1 hybrid autoimmune disease: a genetic analysis.

This study analyzes the role of genetic and/or viral factors as etiologic agents in systemic lupus erythematosus in NZB/NZW F1 hybrid mouse, first by a backcross within the NZ strains. A separate study involved an outcross, production of an F2 generation, and then backcross to both NZ parents. The results were assayed by histologic evaluation of renal disease. Assay techniques for anti-DNA and proteinuria showed no evidence for segregation and were not useful. Histology of the kidney showed distinct segregation patterns consistent with the interpretation of the etiology as co-dominant genetic factors. While the virus[es] was not considered etiologic, mechanisms for relating activity to the pathogenesis were discussed.

Animals↗