Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.

Loss of heterozygosity for 11p markers and preferential loss of maternal alleles have been described in Wilms tumor. In this report we describe the molecular characterization of the constitutional and somatic 11p rearrangements in a del(11p13) WAGR patient with Wilms tumor. Both rearrangements led to loss of maternal alleles for two different regions of 11p, namely, 11p13 and 11p14----p15.

Parental origin of de novo constitutional deletions of chromosomal band 11p13.

One-half of all cases of Wilms tumor (WT), a childhood kidney tumor, show loss of heterozygosity at chromosomal band 11p13 loci, suggesting that mutation of one allele and subsequent mutation or loss of the homologous allele are important events in the development of these tumors. The previously reported nonrandom loss of maternal alleles in these tumors implied that the primary mutation occurred on the paternally derived chromosome and that it was "unmasked" by loss of the normal maternal allele. This, in turn, suggests that the paternally derived allele is more mutable than the maternal one.

Clinical and laboratory evaluation of patients exposed to neurotoxicants.

For clinicians, toxicologists, and behavioral scientists, the steady contamination of the environment poses dynamic challenges for accurate diagnosis and evaluation of toxic exposure. The purpose of the neurotoxic evaluation is to determine the level of damage a toxic substance has caused to the biochemistry, physiology, and morphology of the central, peripheral, and autonomic nervous systems. A complete clinical neurotoxicologic assessment hinges on a thorough medical and occupational history, physical examination findings, and specific neurologic and neuropsychologic tests as well as laboratory evaluation.

Diel nitrogen fixation by cyanobacterial surface blooms in sanctuary lake, pennsylvania.

Diel nitrogen fixation studies were conducted with assemblages of cyanobacteria sampled from surface blooms on Sanctuary Lake, Pa. The studies were conducted between July and September of 1982 to 1985 by using the acetylene reduction technique. Assemblages with the lowest cell concentrations (0.

Definition of the limits of the Wilms tumor locus on human chromosome 11p13.

In a previous report, we described a contiguous restriction map of chromosome band 11p13 that localized the Wilms tumor locus to a small group of NotI fragments. In an effort to identify and isolate the 11p13-associated sporadic Wilms tumor locus, we developed a panel of NotI fragment-specific DNA probes. These probes were selected from genomic libraries constructed using the Chinese hamster ovary-human somatic cell hybrid carrying only human 11p.

A panel of restriction fragment length polymorphisms for chromosomal band 11p13.

A panel of seven chromosome 11p13 restriction fragment length polymorphisms (RFLPs) detected by five DNA probes is described. Two alleles were identified for each polymorphism, and Mendelian segregation of alleles was observed. Allele frequencies range from 0.

Flow cytometric competitive binding assay for determination of actinomycin-D concentrations.

A single step, separation free competitive binding reaction between the fluorescent antibiotic mithramycin and actinomycin-D for common binding sites on DNA coated 10 microns diameter microspheres is described. The fluorescence of the microspheres is measured with a flowcytometer. In the presence of a constant amount of mithramycin, the microsphere fluorescence is inversely proportional to actinomycin-D concentration.

Nucleotide sequence of a transcriptional enhancer located 2.2 kb 3' of a human placental lactogen-encoding gene.

The nucleotide sequence of the human placental lactogen-encoding gene enhancer was determined. This tissue-specific enhancer is contained in a region flanked by a 284-bp Alu repeat.

Twenty-four hour urinary protein loss in healthy cats and the urinary protein-creatinine ratio as an estimate.

Urinary protein loss was determined in 12 healthy cats. Voided urine was collected and protein quantitated by the Coomassie blue method. Mean protein loss for all cats was 12.

Expression of the trpC gene from Penicillium chrysogenum in Aspergillus nidulans.

The heterologous expression in Aspergillus nidulans of a gene involved in tryptophan biosynthesis from Penicillium chrysogenum is described. With the chimeric plasmid pPC-31, which carries the cloned trpC gene, approximately 10-40 "stable" transformants per microgram of DNA were obtained, with selection for complementation of the mutant allele. This frequency was increased 10-fold by the insertion of the ans1 fragment into the transformation vector.

Transformation of Penicillium chrysogenum with selection for increased resistance to benomyl.

Incubation of protoplasts of Penicillium chrysogenum with the plasmid pBT-3 permitted selection of transformants on the basis of increased resistance to the anti-fungal agent benomyl. Transformants were obtained at a frequency of 1-2 per microgram of DNA. Southern analysis revealed that transformation had occurred by integration of vector sequences into the host genome.

Mitosis-specific monoclonal antibody MPM-2 inhibits Xenopus oocyte maturation and depletes maturation-promoting activity.

MPM-2, a monoclonal antibody specific for cells in mitosis, recognizes a family of proteins that share a common phosphorylated epitope. In this study we have shown that during the maturation of Xenopus laevis oocytes induced by progesterone, phosphorylation of MPM-2 antigens coincided with the appearance of MPF activity. When MPM-2 (0.

Distal deletion of chromosome Ip in ductal carcinoma of the breast.

By use of recombinant DNA probes that correspond to genetic loci residing on human chromosome 1, DNA samples from 37 ductal breast carcinomas and constitutional DNA from the same individuals were tested for loss of heterozygosity. A high frequency (41%) of reduction to homozygosity was detected with the probe p1-79, which recognizes the highly polymorphic locus D1Z2, localized on 1p36. Loss of heterozygosity at other chromosome 1 loci was much less common, not exceeding a frequency of 10%, and was never observed in the absence of the D1Z2 loss.

The clinical assessment of obscure auditory dysfunction--1. Auditory and psychological factors.

We define obscure auditory dysfunction (OAD) as the clinical presentation of reported difficulty understanding speech in the presence of noise accompanied by clinically "normal" hearing thresholds, and no other obvious cause. The term deliberately avoids particular pathophysiological connotations. A detailed characterization of such patients was undertaken as the basis for future diagnosis and management of OAD by clinicians.

Arteriosclerosis in a rabbit.

Extensive mineralization of the aorta, brachiocephalic trunk, and the left subclavian, both iliac, common carotid, and renal arteries were found at necropsy in a 3-year-old French Lop rabbit. The rabbit had been examined previously for seizures, at which time abdominal radiography revealed calcification of the abdominal aorta and external iliac arteries. Treatment was not initiated, and the rabbit died 4 months later of bacterial pneumonia.

Neuronal-visceral GM1 gangliosidosis in Portuguese water dogs.

Three female siblings in a litter of seven Portuguese Water dogs (PWDs) showed clinical signs of ataxia and/or lameness at 5 months of age. Signs of cerebellar dysfunction (intention tremors, ataxia, widebased stance, dysmetria, and/or nystagmus) and mild limb weakness developed rapidly. Results of hemograms (three dogs), blood chemistry profiles (two dogs), urinalyses (two dogs), electroencephalograms (two dogs), and radiographs of the limbs or pelvis (three dogs), vertebrae (two dogs), and skull (one dog) were unremarkable except for an absolute lymphocytosis in one dog.

Long range physical map of the Wilms' tumor-aniridia region on human chromosome 11.

The relationship between genetic alterations at chromosomal band 11p13 and the WAGR (Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is not clearly understood. To aid our understanding of this relationship, we have constructed a physical map of this region of the genome using pulsed field gel electrophoresis. Fifteen newly identified 11p13-specific probes and four previously reported probes were used to subdivide 11p13 into five intervals defined by overlapping constitutional deletions from several WAGR patients.

Lack of linkage of familial Wilms' tumour to chromosomal band 11p13.

Wilms' tumour (WT), a paediatric renal neoplasm, affect approximately 1 in 10,000 children. One or both kidneys can be affected and 5-10% of tumours are bilateral. Most tumours occur sporadically; however, around 1% of the cases are familial, with siblings or cousins most often being affected.

A histopathologic study of the effects of gossypol on the female rat.

The purpose of this study was to examine the tissues of female rats treated with gossypol acetic acid for morphologic evidence of an underlying mechanism of infertility. The number of estrous cycles, and body and adrenal weights were also compared. The number of estrous cycles decreased in rats treated with 60 mg/kg gossypol acetic acid for 30 days.