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Clin Chem Lab Med 2008;46(2):165–168 2008 by Walter de Gruyter • Berlin • New York. DOI 10.1515/CCLM.2008.037 2007/339 Article in press - uncorrected proof A family with multiple mutations and sequence variations in the a- and b-globin gene clusters Karen M.K. de Vooght, Richard van Wijk, Gert Rijksen and Wouter W. van Solinge* Department of Clinical Chemistry and Haematology, Laboratory for Red Blood Cell Research, University Medical Center Utrecht, Utrecht, The Netherlands Abstract Background: Usually, laboratory diagnostics of hered- itary hemoglobin

change in an 8 year follow-up; results from the Czech MONICA study. Clin Biochem 2003 ; 36 : 263 –7. 4. Hubacek JA, Bobkova D. Role of cholesterol 7α-hydroxylase (CYP-7A1) in nutrigenetics and pharmacogenetics of cholesterol lowering. Mol Diagn Ther 2006 ; 10 : 93 –100. 5. Mason LF, McNeill G. The effect of genetic variation on the lipid response to dietary change: recent findings. Curr Opin Lipidol 2005 ; 16 : 61 –7. 6. Groenendijk M, Cantor RN, de Bruin TW, Dallinga-Thie GM. The apoAI-CIII-AIV gene cluster. Atherosclerosis 2001 ; 157 : 1 –11. 7. Fruchart

IL-1 Gene Cluster Polymorphisms in the Macedonian Population

The aim of this study was to genotype IL-1 gene cluster polymorphisms in the Macedonian population. A group composed of 301 healthy unrelated individuals was selected. IL-1 genotyping of the samples was performed by the PCR-SSP procedure followed by analysis of the IL-1 data with the PyPop population genetic analysis software package. The frequency of IL-1 alleles varies from 0.814 for IL1A -889/C, 0.729 for IL-1B +3962/C, 0.698 for IL-1RN mspa 11100/T, 0.671 for IL-1B -511/C, followed by 0.663 for IL-1R psti 1970/C indicating common "wild type" allele. We determined 27 different haplotypes from the total number of 32. The most frequent haplotypes for IL-1 are CCCCT (0.191), CTCCT (0.127), CCCTT (0.098), CCCCC (0.085), CTCTT (0.082). All pairs of loci for IL-1, except for IL-1R psti 1970, are in linkage disequilibrium, with p<0.05. The closest genetic distance is observed between the studied Macedonian population and the population from ItalyTorino, while the most genetically distant populations were TaiwanTsou, and TaiwanYami. It is concluded that IL-1 cluster alleles, genotypes, and haplotypes in Macedonian population show a good concordance with Hardy Weinberg equilibrium and can be used for anthropological comparisons, as well as for association studies with different diseases.

HOPPE-SEYLER'S Z. PHYSIOL. CHEM. Bd. 352, S. 377-384, März 1971 A New Gene Cluster in Yeast: The Fatty Acid Synthetase System ECKHART SCHWEIZER, LOTHAR KÜHN and HELGA CASTORPH Institut für Biochemie der Universität Würzburg* (Received 14 December 1970) Dedicated to Prof. Dr. Feodor LYNEN on the occasion of his 60th birthday Summary: By pairwise crosses, 75 different fatty acid requiring mutants of Saccharomyces cerevisiae were subjected to complementation analysis. From the data obtained, a linear complementation map was constructed comprising nine different

M., Bernasconi E. & Barredo J.L. 1999. The NADP-dependent glutamate dehydrogenase gene from Penicillium chrysogenum and the construction of expression vectors for filamentous fungi. Appl. Microbiol. Biotechnol. 52: 196–207. http://dx.doi.org/10.1007/s002530051509 [13] Elander R.P. 2003. Industrial production of β-lactam antibiotics. Appl. Microbiol. Biotechnol. 61: 385–392. [14] Fierro F., Barredo J.L., Díez B., Gutiérrez S., Fernández F.J. & Martín J.F. 1995. The penicillin gene cluster is amplified in tandem repeats linked by conserved hexanucleotide sequences

Association Study of Genetic Variants in the 14q11 - 14q13 Proteasomal Genes Cluster with Juvenile Idiopathic Arthritis (JIA) in Latvian Population

The possible role of proteasomes in the development of autoimmune diseases was hypothesised after discovery of the involvement of proteasomal LMP2 and LMP7 subunits in antigene processing. The objective of this study was to determine the association between allelic variants of the genes encoding proteasomal proteins PSME1, PSME2 and PSMA6 and juvenile idiopathic arthritis (JIA) in the Latvian population. One Indel G-4543 CA-4544 →GA and four SNPs related to the PSMA6 gene (A-2486 →G and C-1910 →T, upstream promoter, C-110 →A of promoter, and C-8 →G of 5'UTR), of two cSNP in PSME1 (G1457 →A:Val104, exon 6 and C2536 →A: Lys244 →Thr, exon 11) and in PSME2 (C1153 →G:Arg61 →Gly, exon 4 and A1440 →C:His89 →Pro, exon 6) were geno-typed by means of primer-specific PCR, CAPS assay and/or sequencing in case/control study composed from the 156 JIA patients and 214 healthy individuals. Allele frequency and genotype distribution was similar in cases and controls for Indel, and SNPs A-2486 →G, C-1910 →T and C-8 →G of PSMA6, as well as for all studied cSNPs in PSME1 and PSME2 genes. Differences in A-110 allele and CG genotype frequencies were close to the statistically significant P level in JIA patients and healthy individuals, however, when an additive model was applied, the difference in the C-110 →A locus turned out to be statistically significant. The results support the hypothesis of the possible association of PSMA6 gene allelic variants with JIA in the Latvian population.

© Freund Publishing House Ltd., London Journal of Pediatric Endocrinology & Metabolism, 10, 185-190 (1997) Molecular Diagnosis and Endocrine Evaluation of a Patient with a Homozygous 7.0 kb Deletion of the Growth Hormone (GH) Gene Cluster: Response to Biosynthetic GH Therapy L.A. Perez Jurado1, J. Argente2, V. Barrios2, J. Pozo2, M.T. Munoz2, M. Hernandez2 and U. Francke1'"5 department of Genetics and Pediatrics and 3Howard Hughes Medical Institute Stanford University, Stanford, CA, USA 2 Department of Pediatrics, Universidad Autonoma, Hospital Nino Jesus

Biol. Chem. Hoppe-Seyler Vol. 370, pp. 533-542, June 1989 Structure of a Hemoglobin Gene Cluster and Nucleotide Sequence of Three Hemoglobin Genes from the Midge Chironomus thummi piger (Diptera, Insecta) Peter ROZYNEK, Thomas HANKELN and Erwin Robert SCHMIDT Institut für Genetik, Ruhr-Universität, Bochum (Received 30 January 1989) Summary: The aquatic larvae of the genus Chironomus (Diptera, Insecta) contain at least 12 different hemoglobin (Hb) variants in their hemolymph. In the present study we have analysed the structure and part of the nucleotide sequence

found in the cluster. Likewise, the sulfation of some echinocandins is also not encoded in the gene clusters. E, experimental evidence; P, predicted by sequence homology; C, correlation between presence of gene and the occurrence of a particular functional group. The genetic composition of the clusters, shown in Figure 5 B, allows a relatively precise prediction of the structure of the corresponding products. Only the sulfate groups at the homotyrosine residue in some of the products are not encoded in the clusters. The presence of a PKS indicates a branched chain

regulation and functional attributes of the old (GK) and new (KLK) families which underscore the evolutionary conservation across these loci and spe- cies. This historical perspective focuses on the lessons learned from earlier studies on the rodent GK gene fam- ilies and the striking similarities of some attributes, yet uniqueness, of others. These earlier findings have all contributed to the current status of the KLK serine peptidase-encoding gene family as an exciting source of new biomarkers and therapeutic targets. Keywords: expression; function; gene clusters