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1.
J. H. D. Bassett A. A. J. Pannett S. A. Forbes R. V. Thakker M. McCarthy A. P. Read B. T. Teh C. Larsson S. Kytölä J. Leisti P. Salmela G. Weber S. Giraud C. X. Zhang A. Calender J. W. M. Höppener H. K. Ploos van Amstel C. J. M. Lips K. Kas W. J. M. Van de Ven P. Gaudray 《Human genetics》1997,100(5-6):657-665
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids,
pancreas and anterior pituitary. The MEN1 gene has been localised to a 2-Mb region of chromosome 11q13 by meiotic mapping
studies in MEN1 families. Such studies may have a limited resolution of approximately 1 cM (i.e. 1 Mb) and we have therefore
investigated 96 MEN1 families (40 British, 17 French, 12 Finnish, 7 Swedish, 7 Dutch, 7 North American, 2 Australian, 1 New
Zealand, 1 German, 1 Spanish and 1 Danish) for linkage disequilibrium, in order to facilitate a finer mapping resolution.
We have utilised five microsatellite DNA sequence polymorphisms from the candidate region and have accurately determined their
allele sizes, which ranged from 161 bp to 272 bp. The heterozygosity and number of alleles (given in brackets), respectively,
at the loci were: D11S1883 (76%, 11), D11S457 (55%, 5), PYGM (94%, 18), D11S1783 (10%, 4) and D11S449 (87%, 16). Allelic association
was assessed by Chi-square 2 ×n contingency tables, by Fisher exact 2 ×n contingency tables and by a likelihood-based approach. The results of haplotype analysis revealed 91 different affected haplotypes
in the 96 families, an identical affected haplotype being observed in no more than two families. These results indicate the
absence of an ancestral affected haplotype. Significant linkage disequilibrium (P < 0.005) could be established amongst the microsatellite loci but not between the loci and MEN1 in either the total population
or in any of the geographical sub-populations. The absence of linkage disequilibrium between MEN1 and the polymorphic loci
is probably the result of the occurrence of multiple different disease-causing mutations in MEN1.
Received: 1 April 1997 / Accepted: 25 June 1997 相似文献
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H. J. Espiner P. R. Salmon R. H. Teague A. E. Read 《BMJ (Clinical research ed.)》1973,1(5851):453-454
In 12 patients with radiologically-proved lesions of the colon total retrograde fibreoptic colonoscopy was performed on the unopened bowel at laparotomy. Additional polyps were found in five patients, and in four of these the polyp was not readily palpable through the bowel wall. This procedure is indicated whenever there are reasonable grounds for suspecting the presence of multiple polypi. 相似文献
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Denise Risch Nicholas J. Gales Jason Gedamke Lars Kindermann Douglas P. Nowacek Andrew J. Read Ursula Siebert Ilse C. Van Opzeeland Sofie M. Van Parijs Ari S. Friedlaender 《Biology letters》2014,10(4)
For decades, the bio-duck sound has been recorded in the Southern Ocean, but the animal producing it has remained a mystery. Heard mainly during austral winter in the Southern Ocean, this ubiquitous sound has been recorded in Antarctic waters and contemporaneously off the Australian west coast. Here, we present conclusive evidence that the bio-duck sound is produced by Antarctic minke whales (Balaenoptera bonaerensis). We analysed data from multi-sensor acoustic recording tags that included intense bio-duck sounds as well as singular downsweeps that have previously been attributed to this species. This finding allows the interpretation of a wealth of long-term acoustic recordings for this previously acoustically concealed species, which will improve our understanding of the distribution, abundance and behaviour of Antarctic minke whales. This is critical information for a species that inhabits a difficult to access sea-ice environment that is changing rapidly in some regions and has been the subject of contentious lethal sampling efforts and ongoing international legal action. 相似文献
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Grantly Dick Read 《BMJ (Clinical research ed.)》1949,1(4606):651-654