| 1. |
- Da Via, C, et al.
(författare)
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Lightwave Analogue Links For LHC Detector Front-ends
- 1994
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Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - : Elsevier BV. - 0167-5087 .- 0168-9002. ; 344:1, s. 199-211
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Tidskriftsartikel (refereegranskat)abstract
- The requirements on optical links for transferring analog and digital signals from the detector front-ends to the readout electronics at future high-luminosity colliders are reviewed. The advantages of external modulation techniques are discussed. An outline is given of the the R&D programme recently started at CERN by a collaboration involving high-energy physics institutes, optoelectronics research laboratories and industry, in order to develop electro-optic intensity modulator arrays, particularly for analogue applications, and to investigate the feasibility of volume production. The design of multichannel demonstrators in lithium niobate and III-V semiconductor technology is described. Preliminary results of the performance measurements are presented.
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| 2. |
- Montandon, A. J., et al.
(författare)
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Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden
- 1992
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Ingår i: Human Genetics. - 0340-6717. ; 89:3, s. 319-322
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Tidskriftsartikel (refereegranskat)abstract
- Mutation rates for X-linked recessive diseases have so far been estimated indirectly by postulating an equilibrium between the loss of defective genes caused by the low reproductive fitness of affected males and the gain resulting from new mutations. Here, for the first time, we directly estimate both the overall and sex-specific mutation rates for haemophilia B by detecting the gene defect of the families registered at the Malmö Haemophilia Centre. These represent a complete sample of the Swedish haemophilia B population (45 out of 77 pedigrees) and contain 23 families with a single affected male. Fifteen of these males had mothers available for study, and of these mothers, 13 had parents available for study. We show that 3 of the above patients and 10 of their mothers carry new mutations, and by extrapolation calculate that 8 males and 98 females should carry new haemophilia B mutations in the Swedish population (8.52 × 106 individuals). This leads to the following estimate of the mutation rates: overall μ = 4.1 × 10-6; male specific v = 2.1 × 10-5; and female specific u = 1.9 × 10-6. The ratio of such male to female specific mutation rates is thus v/u = 11.
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| 3. |
- Green, P. M., et al.
(författare)
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Haemophilia B mutations in a complete Swedish population sample : a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity
- 1991
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Ingår i: British Journal of Haematology. - : Wiley. - 0007-1048 .- 1365-2141. ; 78:3, s. 390-397
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Tidskriftsartikel (refereegranskat)abstract
- Carrier and prenatal diagnosis based on the identification of the gene defect (direct diagnosis) increases the proportion of haemophilia B families that can be offered precise genetic counselling from the 50-60% attainable by DNA markers, to 100%, and they also provide information on the molecular biology of the disease. We propose that in order to maximize the practical and scientific benefits of direct diagnosis the gene defect of complete (possibly national) populations of patients should be characterized and the information stored in appropriate confidential databases. We demonstrate the feasibility of such a strategy by characterizing the mutations of all the patients registered with the Malmo haemophilia centre. These patients (44♂ and 1♀) are from 45 unrelated families and 24 (53%) have negative family history. The 25 patients with similar reduction of factor IX:C and factor IX:Ag (24♂ + 1♀) have: two gross deletions, three frameshifts, four translation stops, six mutations expected to affect pre-mRNA splicing and 10 amino acid substitutions. The six patients with greater reduction of factor IX:C than factor IX:Ag and the seven with reduced IX:C and normal IX:Ag have only amino acid substitutions. Patients with inhibitors have: one complete deletion, one frameshift and three translation stops. One patient has both a translation stop and a functionally neutral amino acid substitution (His257→Tyr). Characterization of the factor IX mutation was successful in every case, usually entailed 4 person-days work, and has led to the identification of 12 amino acid residues essential for the factor IX structure and function.
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| 4. |
- Green, P. M., et al.
(författare)
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Haplotype analysis of identical factor IX mutants using PCR
- 1992
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Ingår i: Thrombosis and Haemostasis. - 0340-6245. ; 67:1, s. 66-69
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Tidskriftsartikel (refereegranskat)abstract
- We have detected the mutations in the factor IX genes from all of the haemopllilia B patients registered at Malmo haemophilia centre (45) and are currently examining the entire UK haemophilia B population. From these studies we have found 13 base substitutions which have recurred in 1-6 other, presumably unrelated, patients. In order to determine the minimum number of independent repeats of each mutation we have used PCR to examine the five factor IX polymorphisms forming the most informative combinations and we have characterised thc haplotype of each patient. Patients with different haplotypes are assumed to be unrelated and thus to carry independent mutations. All but one of thc 13 mutations occur in at least 2 haplotypes thus pinpointing 12 mutational hotspots and mutations that can be clearly considered detrimental. Two of the 13 substitutions occur at non-CpG sites.
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| 5. |
- Montandon, A. J., et al.
(författare)
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A new strategy for carrier and prenatal diagnosis and molecular studies in haemophilia B
- 1991
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Ingår i: Biotechnology of Plasma Proteins : Haemostasis, Thrombosis and Iron Proteins International Symposium, Florence, April 1990 - Haemostasis, Thrombosis and Iron Proteins International Symposium, Florence, April 1990. - : S. Karger AG. - 9783805552509 - 9783318035285 ; 58, s. 88-93
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Konferensbidrag (refereegranskat)
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