Localization of the human phosphotyrosine phosphatase-related genes (h-PRL-1) to chromosome bands 1p35-p34, 17q12-q21, 11q24-q25 and 12q24

The h-PRL-1 gene codes for a new phosphotyrosine phosphatase that may play an important role in the control of basic cellular processes such as cell growth and proliferation. Using the cDNA of the h-PRL-1 gene as a probe, we examined a somatic mouse and hamster x human hybrid panel and found that chromosomes 1, 17 and 11 harbor sequences homologous to h-PRL-1. By in situ hybridization of metaphase spreads, subchromosomal localizations were determined at bands 1p35-p34, 17q12-q21 and 11q24-q25; in addition, a faint signal was detected at 12q24. The chromosomal assignment of the genes homologous to h-PRL-1 will help the investigation of its possible involvement in human diseases involving genetic alteration at these chromosomal regions.     

Localization of human transcription factor TEF-4 and TEF-5 (TEAD2, TEAD3) genes to chromosomes 19q13.3 and 6p21.2 using fluorescence in situ hybridization and radiation hybrid analysis

The tetrapeptide Ala-lle-Gly-Met bound to a Wang resin via the methionine residue was studied by NMR under MAS conditions and compared to the same peptide in solution. The bound peptide exhibits average linewidths superior to those observed for the peptide in solution. The origin of the residual NMR linewidth observed for the bound form was investigated. The dynamics of the peptide is shown to be only marginally responsible for the increased linewidth; the major cause of the line broadening appears to be nonaveraged magnetic susceptibility differences.     

P450RAI (CYP26A1) maps to human chromosome 10q23-q24 and mouse chromosome 19C2-3

STUDY DESIGN: A case report. OBJECTIVES: To document a fracture of the 11th thoracic vertebra after spine fusion for adult idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: Three cases of vertebral fractures associated with spine fusion for scoliosis were found in the literature. METHODS: Medical and radiologic records and related literature were reviewed. RESULTS: A 30-year-old woman had undergone anterior and posterior fusion with Cotrel-Dubousset instrumentation for progressive idiopathic scoliosis. Two years after surgery, she was in a car accident. A radiographic study and computer tomographic scanning depicted a fracture of T11 and bending of the rods. Observation was instituted and symptoms resolved. CONCLUSIONS: Fracture of a vertebra within an extensive spine fusion for scoliosis is rare. The 360 degrees solid fusion together with strong posterior instrumentation may have had some protective effect in this patient.     

Localization of the human NMDAR2D receptor subunit gene (GRIN2D) to 19q13.1-qter, the NMDAR2A subunit gene to 16p13.2 (GRIN2A), and the NMDAR2C subunit gene (GRIN2C) to 17q24-q25 using somatic cell hybrid and radiation hybrid mapping panels

1. Three hundred 4-week-old commercial Hibrow broiler chicks were fed ad libitum, 85% and 70% of ad libitum or ad libitum for 5 d per week with 3rd and 5th days of food withdrawal for 28 d to examine the effects of food restriction on liveweight, growth rate, food conversion efficiency, dressing percentage, abdominal fat and mortality. 2. Quantitative food reduction to 85% and 70% of ad libitum, and reduction in feeding time by 2 d/week significantly reduced final body weight and rate of growth. 3. Food restriction (to 70% ad libitum) resulted in lower abdominal fat than ad libitum feeding, 15% food restriction or reduction in feeding time by 2 d/week. 4. There were no significant differences between the effects of 15% food restriction and 2-d reduction in feeding time per week on final body weight, growth rate and abdominal fat. 5. Reduction in feeding time by 2 d/week resulted in the same food efficiency as ad libitum feeding and quantitative food restriction by 15% and a significantly better food efficiency than 30% quantitative food reduction. 6. Reducing feeding time by 2 d/week seemed to have less severe effects on the birds than quantitatively reducing food supply by 30%.     

Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-->q13.3

We have cloned the cDNA for the human homolog of the rat AP17 gene, a small chain of the clathrin-associated protein complex AP-2. The cDNA is highly conserved between rat and human. Human AP17, gene symbol CLAPS2 (clathrin-associated/assembly/adaptor protein, small 3, 17 kDa), was assigned to chromosome region 19q13.2-->q13.3.     

Mapping of human DNA-binding nuclear protein (NP220) to chromosome band 2p13.1-p13.2 and its relation to matrin 3

Human NP220 (hNP220) is a novel DNA-binding nuclear protein, which has an arginine/serine-rich motif and polypyrimidine tract-binding motif, and NP220s and matrin 3 are thought to form a novel family of nuclear proteins. We have determined a chromosomal localization of the cDNA encoding human NP220 to 2p13.1-p13.2 by using fluorescence in situ hybridization. Human matrin 3 cDNA was mapped to chromosomes 1p13.1-p21.1 and 5q31.3, demonstrating that these novel nuclear proteins with similar functions are on different chromosomes.     

Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epistasis between 1p and IBD1

The idiopathic inflammatory bowel diseases, Crohn's disease (CD) and ulcerative colitis (UC), are chronic, frequently disabling diseases of the intestines. Segregation analyses, twin concordance, and ethnic differences in familial risks have established that CD and UC are complex, non-Mendelian, related genetic disorders. We performed a genome-wide screen using 377 autosomal markers, on 297 CD, UC, or mixed relative pairs from 174 families, 37% Ashkenazim. We observed evidence for linkage at 3q for all families (multipoint logarithm of the odds score (MLod) = 2.29, P = 5.7 x 10(-4)), with greatest significance for non-Ashkenazim Caucasians (MLod = 3.39, P = 3.92 x 10(-5)), and at chromosome 1p (MLod = 2.65, P = 2.4 x 10(-4)) for all families. In a limited subset of mixed families (containing one member with CD and another with UC), evidence for linkage was observed on chromosome 4q (MLod = 2.76, P = 1.9 x 10(-4)), especially among Ashkenazim. There was confirmatory evidence for a CD locus, overlapping IBD1, in the pericentromeric region of chromosome 16 (MLod = 1.69, P = 2.6 x 10(-3)), particularly among Ashkenazim (MLod = 1.51, P = 7.8 x 10(-3)); however, positive MLod scores were observed over a very broad region of chromosome 16. Furthermore, evidence for epistasis between IBD1 and chromosome 1p was observed. Thirteen additional loci demonstrated nominal (MLod > 1.0, P < 0.016) evidence for linkage. This screen provides strong evidence that there are several major susceptibility loci contributing to the genetic risk for CD and UC.     

Allelic status of 1p, 14q, and 22q and NF2 gene mutations in sporadic schwannomas

Watson is a fully developed suburb of some 30 years in Canberra (the capital city of Australia). A plunge dip using arsenical pesticides for tick control was operated there between 1946 and 1960. Chemical investigations revealed that many soil samples obtained from the study area contained levels of arsenic exceeding the current health-based investigation levels of 100 mg kg-1 set by the National Healthy and Medical Research Council in Australia. For the speciation study, nine composite samples of surface and sub-surface soils and a composite samples of rocks were selected. ICP-MS analysis showed that arsenic levels in these samples ranged from 32 to 1597 mg kg-1. Chemical speciation of arsenic showed that the arsenite (trivalent) components were 0.32-56% in the soil and 44.8% in the rock composite samples. Using a rat model, the absolute bioavailability of these contaminated soils relative to As3+ or As5+ ranged from 1.02 to 9.87% and 0.26 to 2.98%, respectively. An attempt was made to develop a suitable leachate test as an index of bioavailability. However, the results indicated that there was no significant correlation between the bioavailability and leachates using neutral pH water or 1M HC1. Our results indicate that speciation is highly significant for the interpretation of bioavailability and risk assessment data; the bioavailability fractions of arsenic in soils from Watson are small and therefore the healthy impact upon the environment and humans due to this element is limited.     

Assignment1 of human putative tumor suppressor genes ST13 (alias SNC6) and ST14 (alias SNC19) to human chromosome bands 22q13 and 11q24-->q25 by in situ hybridization

OBJECTIVE: Our aim was to describe the indications of repeat caesarean delivery and to determine modifiable practice patterns that might lead to fewer repeat caesarean deliveries. METHOD: Hospital records of all women with previous caesarean sections who delivered between 15 April, 1994-31 December, 1994 at the Princess Badeea Teaching Hospital in North Jordan were reviewed. Three groups were identified: 1) elective repeat caesarean 2) vaginal birth after caesarean 3) failed vaginal birth after caesarean. RESULTS: In this study there were 388 patients. Of these, 208 had a repeat caesarean delivery for the following reasons: failed vaginal birth after caesarean (39, 10.1%) and repeat elective caesarean section (169, 43.5%). The remaining (180, 46.4%) patients had a vaginal birth after caesarean. CONCLUSIONS: Our vaginal birth rate after one previous caesarean section was 82.2%. If this rate can be maintained in patients with 2 or 3 previous caesarean deliveries, we can reduce repeat caesarean rates by at least 14% by allowing more patients with 2 or even 3 previous caesarean deliveries to have a trial of labour under appropriate conditions and also proper management of dystocia.     

Fluorescence in situ mapping of the human nuclear NAD+ ADP-ribosyltransferase gene (ADPRT) and two secondary sites to human chromosomal bands 1q42, 13q34, and 14q24

A 3.5-kb cDNA probe containing the 23 exons from the coding sequence of human nuclear NAD+ ADP-ribosyltransferase (poly [ADP-ribose] polymerase [ADPRT], E.C.2.4.2.30) was used to map the gene and two additional sites by nonisotopic in situ chromosomal hybridization. The previous localization of the structural gene on 1q42 was confirmed. Two other hybridization peaks on 13q34 and 14q24 suggested the presence of ADPRT pseudogenes.     

Cloning of STK13, a third human protein kinase related to Drosophila aurora and budding yeast Ipl1 that maps on chromosome 19q13.3-ter

The effect of surgery on the subsequent growth of the iliac apophysis was studied in 30 immature New Zealand White rabbits. Groups of animals were subjected to splitting of the iliac apophysis or excision of part of or the whole apophysis. These animals were compared to a group with a sham operation. Results showed that splitting with subsequent resuturing of the iliac apophysis resulted in normal growth in height but increased growth in width and thickness of the iliac bone. Excision of one third of the iliac apophysis did not interfere with subsequent growth, but excision of two thirds or more of the iliac apophysis resulted in retarded growth of the iliac bone. These experimental studies suggest that the iliac apophysis can be safely split in the surgical approach to a child's hip. Also one third of the iliac apophysis can be safely sacrificed for use as a physeal graft or for chondrocyte cultures.     

The human dead ringer/bright homolog, DRIL1: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19p13.3 that is strictly linked to the Peutz-Jeghers syndrome

A 2-year trial was conducted to evaluate the cost-effectiveness of heliotherapy for psoriasis. The course and cost of psoriasis of 46 Finnish patients were first closely monitored for 1 year, then the patients received a 4-week supervised heliotherapy treatment in the Canary Islands, Spain, after which they continued to be followed for another year. Heliotherapy dramatically reduced the severity of psoriasis and also seemed to have favourable long-term effects on psoriasis. The mean direct cost of the 4-week heliotherapy for one patient was FIM12,289 (1 Pound = FIM7.0 in 1989). The cost of flights and half-board in Spain formed nearly 60% (FIM7033) of the total cost. In the year preceding heliotherapy, the mean direct annual cost of antipsoriasis therapy was FIM7335 and in the year after FIM5700, a reduction of 22% in annual costs; this change was not statistically significant because there were large variations in costs among patients. The costs of heliotherapy exceeded manyfold the mean monthly cost of conventional psoriasis therapy. There were no overall savings using heliotherapy in those patients suffering mainly from moderately severe psoriasis. Heliotherapy saved costs only in those patients with severe psoriasis that required expensive medication or ward treatment. Although heliotherapy cannot be regarded as an economical treatment for the average patients with psoriasis, it clears psoriasis effectively and is preferred by patients. Thus, heliotherapy constitutes an alternative for patients suffering severe psoriasis.