Hum. Mol. Genet. -- Table of Contents (2 [6] )

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Contents: Volume 2, Number 6   June 1993   [Index by Author]

       SPECIAL REPORTS

       ORIGINAL ARTICLES

       SHORT REPORTS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       NEW HUMAN DNA POLYMORPHISMS UPDATE

       Author index

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SPECIAL REPORTS:

John M. Valdes, Danilo A. Tagle, Lawrence W. Elmer, and Francis S. Collins: A simple non-radioactive method for diagnosis of Huntington's disease
Hum. Mol. Genet. 1993 2: 633-634; doi:10.1093/hmg/2.6.633 [PDF] [Request Permissions]

Y.Paul Goldberg, Susan E. Andrew, Lorne A. Clarke, and Michael R. Hayden: A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease
Hum. Mol. Genet. 1993 2: 635-636; doi:10.1093/hmg/2.6.635 [PDF] [Request Permissions]

Olaf Riess, Anne Noerremoelle, Sven Asger Soerensen, and Jorg T. Epplen: Improved PCR conditions for the stretch of (CAG)_n repeats causing Huntington's disease
Hum. Mol. Genet. 1993 2: 637; doi:10.1093/hmg/2.6.637 [PDF] [Request Permissions]

ORIGINAL ARTICLES:

Maaret Ridanpää and Kirsti Husgafvel-Pursiainen: Denaturing gradient gel electrophoresis (DGGE) assay for K-ras and N-ras genes: detection of K-ras point mutations in human lung tumour DNA
Hum. Mol. Genet. 1993 2: 639-644; doi:10.1093/hmg/2.6.639 [Abstract] [PDF] [Request Permissions]

Andre Bernards, Allard J. Snijders, Gregory E. Hannigan, Anita E. Murthy, and James F. Gusella: Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments
Hum. Mol. Genet. 1993 2: 645-650; doi:10.1093/hmg/2.6.645 [Abstract] [PDF] [Request Permissions]

Sophie Markiewicz, James P. DiSanto, Jamel Chelly, NIicolas Fairweather, Bernard Le Marec, Claude Griscelli, Manuel B. Graeber, Ulrich Muller, Alain Fischer, Anthony P. Monaco, and Geneviève de Saint Basile: Fine mapping of the human SCIDX1 locus at Xq12–13.1
Hum. Mol. Genet. 1993 2: 651-654; doi:10.1093/hmg/2.6.651 [Abstract] [PDF] [Request Permissions]

Rachel Wevrick, Carol A. Clarke, and Manuel Buchwald: Cloning and analysis of the murine Fanconi anemia group C cDNA
Hum. Mol. Genet. 1993 2: 655-662; doi:10.1093/hmg/2.6.655 [Abstract] [PDF] [Request Permissions]

Brian D. Hendrich, Carolyn J. Brown, and Huntington F. Willard: Evolutionary conservation of possible functional domains of the human and murine XIST genes
Hum. Mol. Genet. 1993 2: 663-672; doi:10.1093/hmg/2.6.663 [Abstract] [PDF] [Request Permissions]

Mabel P. Duyao, Sherryl A.M. Taylor, Alan J. Buckler, Christine M. Ambrose, Carol Lin, Nicolet Groot, Deanna Church, Glenn Barnes, John J. Wasmuth, David E. Housman, Marcy E. MacDonald, and James F. Gusella: A gene from chromosome 4p 16.3 with similarity to a superfamily of transporter proteins
Hum. Mol. Genet. 1993 2: 673-676; doi:10.1093/hmg/2.6.673 [Abstract] [PDF] [Request Permissions]

Núria Morral, Virginia Nunes, Teresa Casals, Nicolás Cobos, Oscar Asensio, Javier Dapena, and Xavier Estivill: Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion
Hum. Mol. Genet. 1993 2: 677-681; doi:10.1093/hmg/2.6.677 [Abstract] [PDF] [Request Permissions]

Julian Zielenski, Dominique Bozon, Danuta Markiewicz, Gervais Aubin, Fernand Simard, Johanna M. Rommens, and Lap-Chee Tsui: Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G $->$ T and 711 +1G $->$ T mutations
Hum. Mol. Genet. 1993 2: 683-687; doi:10.1093/hmg/2.6.683 [Abstract] [PDF] [Request Permissions]

Jeremy Hull, Sue Shackleton, and Ann Harris: Abnormal mRNA splicing resulting from three different mutations in the CFTR gene
Hum. Mol. Genet. 1993 2: 689-692; doi:10.1093/hmg/2.6.689 [Abstract] [PDF] [Request Permissions]

Daynna J. Wolff and Stuart Schwartz: The effect of Robertsonian translocation on recombination on chromosome 21
Hum. Mol. Genet. 1993 2: 693-699; doi:10.1093/hmg/2.6.693 [Abstract] [PDF] [Request Permissions]

Carolyn J. Watson, Lorraine Gaunt, Gareth Evans, Ketan Patel, Rodney Harris, and Tom Strachan: A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus
Hum. Mol. Genet. 1993 2: 701-704; doi:10.1093/hmg/2.6.701 [Abstract] [PDF] [Request Permissions]

Juana M. Barceló, Mani S. Mahadevan, Catherine Tsilfidis, Alex E. MacKenzie, and Robert G. Korneluk: Intergenerational stability of the myotonic dystrophy protomutation
Hum. Mol. Genet. 1993 2: 705-709; doi:10.1093/hmg/2.6.705 [Abstract] [PDF] [Request Permissions]

A. Cobo, J.M. Martinez, L. Martorell, M. Baiget, and K. Johnson: Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters
Hum. Mol. Genet. 1993 2: 711-715; doi:10.1093/hmg/2.6.711 [Abstract] [PDF] [Request Permissions]

Matthew G. Dunckley, Dominic J. Wells, Frank S. Walsh, and George Dickson: Direct retroviral-mediated transfer of a dystrophin minigene into mdx mouse muscle in vivo
Hum. Mol. Genet. 1993 2: 717-723; doi:10.1093/hmg/2.6.717 [Abstract] [PDF] [Request Permissions]

Conxi Lázaro, Antonia Gaona, Anna Ravella, Victor Volpini, Teresa Casals, Juan-José Fuentes, and Xavier Estivill: Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene
Hum. Mol. Genet. 1993 2: 725-730; doi:10.1093/hmg/2.6.725 [Abstract] [PDF] [Request Permissions]

M. Jeanpierre, C. Turleau, A. Aurias, M. Prieur, F. Ledeist, A. Fischer, and E. Viegas-Pequignot: An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome
Hum. Mol. Genet. 1993 2: 731-735; doi:10.1093/hmg/2.6.731 [Abstract] [PDF] [Request Permissions]

Alissa V. Winnard, Christopher J. Klein, Daniel D. Coovert, Thomas Prior, Audrey Papp, Pamela Snyder, Dennis E. Bulman, Peter N. Ray, Patricia McAndrew, Wendy King, Richard T. Moxley, Jerry R. Mendell, and Arthur H.M. Burghes: Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy
Hum. Mol. Genet. 1993 2: 737-744; doi:10.1093/hmg/2.6.737 [Abstract] [PDF] [Request Permissions]

Andrea I. McClatchey, Stephen C. Cannon, Susan A. Slaugenhaupt, and James F. Gusella: The cloning and expression of a sodium channel ß1-subunit cDNA from human brain
Hum. Mol. Genet. 1993 2: 745-749; doi:10.1093/hmg/2.6.745 [Abstract] [PDF] [Request Permissions]

Stephen W. Scherer, Johanna M. Rommens, Sylvia Soder, Ed Wong, Natasa Plavsic, Brock J.F. Tompkins, Aaron Beattie, Julia Kim, and Lap-Chee Tsui: Refined localization and yeast artificial chromosome (YAC) contig—mapping of genes and DNA segments in the 7q21–q32 region
Hum. Mol. Genet. 1993 2: 751-760; doi:10.1093/hmg/2.6.751 [Abstract] [PDF] [Request Permissions]

E. Maestrini, C. Patrosso, M. Mancini, S. Rivella, M. Rocchi, M. Repetto, A. Villa, A. Frattini, M. Zoppè, P. Vezzoni, and D. Toniolo: Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7
Hum. Mol. Genet. 1993 2: 761-766; doi:10.1093/hmg/2.6.761 [Abstract] [PDF] [Request Permissions]

Jay B. Lichter, Cathy L. Barr, James L. Kennedy, Hubert H.M. Van Tol, Kenneth K. Kidd, and Kenneth J. Livak: A hypervariable segment in the human dopamine receptor D₄ (DRD4) gene
Hum. Mol. Genet. 1993 2: 767-773; doi:10.1093/hmg/2.6.767 [Abstract] [PDF] [Request Permissions]

Frank Larsen, Jorun Solheim, and Hans Prydz: A methylated CpG island 3' in the apolipoprotein-E gene does not repress its transcription
Hum. Mol. Genet. 1993 2: 775-780; doi:10.1093/hmg/2.6.775 [Abstract] [PDF] [Request Permissions]

Renu Tuteja, Bruno Bembi, Eriberto Agosti, and Francisco E. Baralle: 1448C mutation linked to the Pv1. 1^– genotype in Italian patients with Gaucher disease
Hum. Mol. Genet. 1993 2: 781-784; doi:10.1093/hmg/2.6.781 [Abstract] [PDF] [Request Permissions]

Nabeel A. Affara, I.Jennifer Chalmers, and Malcolm A. Ferguson-Smith: Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain
Hum. Mol. Genet. 1993 2: 785-789; doi:10.1093/hmg/2.6.785 [Abstract] [PDF] [Request Permissions]

Gina Pengue, Viola Calabrò, Paola Cannada-Bartoli, Pasquale De Luca, Teresa Esposito, Patricia Taillon-Miller, Sal LaForgia, Teresa Druck, Kay Huebner, Michele D'Urso, and Luigi Lania: YAC-assisted cloning of transcribed sequences from the human chromosome 3p21 region
Hum. Mol. Genet. 1993 2: 791-796; doi:10.1093/hmg/2.6.791 [Abstract] [PDF] [Request Permissions]

SHORT REPORTS:

Rachel A. Gibson, Atieh Hajianpour, Manuela Murer-Orlando, Manuel Buchwald, and Christopher G. Mathew: A nonsense mutation and exon skipping in the Fanconi anaemia group C gene
Hum. Mol. Genet. 1993 2: 797-799; doi:10.1093/hmg/2.6.797 [Abstract] [PDF] [Request Permissions]

Ann E.O. Trezsie, Manuel Buchwald, and Christopher F. Higgins: Testis-Specific, alternative splicing of rodent CFTR mRNA
Hum. Mol. Genet. 1993 2: 801-802; doi:10.1093/hmg/2.6.801 [PDF] [Request Permissions]

Karl-F. Becker, Michael J. Atkinson, Ulrike Reich, Hsuan-H. Huang, Hjalmar Nekarda, Jörg R. Siewert, and Heinz Hofler: Exon skipping in the E-cadherin gene transcript in metastatic human gastric carcinomas
Hum. Mol. Genet. 1993 2: 803-804; doi:10.1093/hmg/2.6.803 [PDF] [Request Permissions]

L.L. Hansen, G.K. Brown, R.M. Brown, and H.H.M. Dahl: Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 ${alpha}$ subunit
Hum. Mol. Genet. 1993 2: 805-807; doi:10.1093/hmg/2.6.805 [PDF] [Request Permissions]

Jochen Reiss, Ute Ellermeyer, Frauke Rininsland, Pia Ballhausen, Ulrike Lenz, Silke Wagner, and Manfred Schlösser: A comprehensive CFTR mutation analysis of German cystic fibrosis patients
Hum. Mol. Genet. 1993 2: 809-811; doi:10.1093/hmg/2.6.809 [PDF] [Request Permissions]

MUTATION REPORTS:

Holger Kranich, Sigrid Bartkowski, Michael J. Denton, Sonja Krey, Pamela Dickinson, Christine Duvigneau, and Andreas Gal: Autosomal dominant ‘sector’ retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin
Hum. Mol. Genet. 1993 2: 813-814; doi:10.1093/hmg/2.6.813 [PDF] [Request Permissions]

Viktor Kozich, Raffaella de Franchis, and Jan P. Kraus: Molecular defect in a patient with pyridoxine-responsive homocystinuria
Hum. Mol. Genet. 1993 2: 815-816; doi:10.1093/hmg/2.6.815 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

Laura Schmidt, Hua Li, Ming-Hui Wei, Michael I. Lerman, Berton Zbar, and Kalman Tory: Six dinucleotide microsatellite polymorphisms on human chromosome 3
Hum. Mol. Genet. 1993 2: 817-818; doi:10.1093/hmg/2.6.817 [PDF] [Request Permissions]

Hua Li, Laura Schmidt, Ming-Hui Wei, Thomas Hustad, Michael I. Lerman, Berton Zbar, and Kalman Tory: Three tetrameric repeat polymorphisms on human chromosome 3: D3S1349; D3S1350; D3S1351
Hum. Mol. Genet. 1993 2: 819; doi:10.1093/hmg/2.6.819 [PDF] [Request Permissions]

Daphne L. Davis and David W. Russell: Unusual length polymorphism in human steroid 5 ${alpha}$ -reductase type 2 gene (SRD5A2)
Hum. Mol. Genet. 1993 2: 820; doi:10.1093/hmg/2.6.820 [PDF] [Request Permissions]

Joel Gelernter, Susan Kruger, Kenneth K. Kidd, and Susan Amara: Taql RFLP at norepinephrine transporter protein (NET) locus
Hum. Mol. Genet. 1993 2: 820; doi:10.1093/hmg/2.6.820-a [PDF] [Request Permissions]

Lori S. Friedman, Eric D. Lynch, and Mary-Claire King: Two independent polymorphisms at the 17ß-hydroxysteroid dehydrogenase (EDH17B) gene (17q21)
Hum. Mol. Genet. 1993 2: 821; doi:10.1093/hmg/2.6.821 [PDF] [Request Permissions]

Anne-Françoise Roux, Chu Chin Yuan, Johanna M. Rommens, and Maria A. Musarella: Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110)
Hum. Mol. Genet. 1993 2: 821; doi:10.1093/hmg/2.6.821-a [PDF] [Request Permissions]

M. Pandolfo, M. Munaro, S. Cacozza, E.M. Redolfi, L. Pianese, F. Cavalcanti, A. Monticelli, and S.Di Donato: A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1
Hum. Mol. Genet. 1993 2: 822; doi:10.1093/hmg/2.6.822 [PDF] [Request Permissions]

S.Pieke Dahl, M.D. Weston, L.D. Overbeck, K.L. Evans, D.J. Porteous, and W.J. Kimberling: Dinucleotide repeat polymorphism at the human olfactory marker protein (OMP) locus on chromosome 11q13.5 near tyrosinase (TYR)
Hum. Mol. Genet. 1993 2: 822; doi:10.1093/hmg/2.6.822-a [PDF] [Request Permissions]

E. Redeker, C.J.A. Van Moorsel, A. Feinberg, and M. Mannens: Taql and Rsal polymorphisms in the H19 gene (D11S813E)
Hum. Mol. Genet. 1993 2: 823; doi:10.1093/hmg/2.6.823 [PDF] [Request Permissions]

Jane W. Fountain, Thomas J. Hudson, Marcy Engelstein, David E. Housman, and Nicholas C. Dracopoli: Dinucleotide repeat polymorphism at the D9S126 locus (9p21)
Hum. Mol. Genet. 1993 2: 823; doi:10.1093/hmg/2.6.823-a [PDF] [Request Permissions]

Minoru Fujimori, Peter S. White, Helen N. Marshall, and Garrett M. Brodeur: Simple sequence repeat polymorphism in the cartilage matrix protein (CRTM) gene at 1p35
Hum. Mol. Genet. 1993 2: 824; doi:10.1093/hmg/2.6.824 [PDF] [Request Permissions]

Bruce A. Kaufman, Peter S. White, and Garrett Brodeur: A complex single strand conformational polymorphism (SSCP) in the tumor necrosis factor receptor 2 (TNFR2) gene on chromosome 1p36.2
Hum. Mol. Genet. 1993 2: 824; doi:10.1093/hmg/2.6.824-a [PDF] [Request Permissions]

Peter Warnecke and Anthony S. Weiss: A Scal RFLP at the E-selectin (SELE) locus in a progeria family
Hum. Mol. Genet. 1993 2: 825; doi:10.1093/hmg/2.6.825 [PDF] [Request Permissions]

Christopher J. Krebs, Joseph H. Horton, Chadwick M. Mullins, William J. Paradee, and R.Thomas Taggart: D11S971 CATT polymorphism (RC27) located near the MEN1 locus at 11q13
Hum. Mol. Genet. 1993 2: 825; doi:10.1093/hmg/2.6.825-a [PDF] [Request Permissions]

D.M. Whitcombe and T.M. Cox: Dinucleotide repeat polymorphism at the locus for human ferrochelatase (FECH)
Hum. Mol. Genet. 1993 2: 826; doi:10.1093/hmg/2.6.826 [PDF] [Request Permissions]

W. Luo, Y. Nagayama, N. Yokoyama, and S. Nagataki: Taql polymorphism in the human thyrotropin receptor gene (TSHR)
Hum. Mol. Genet. 1993 2: 826; doi:10.1093/hmg/2.6.826-a [PDF] [Request Permissions]

Bernhard Weber, Olaf Riess, Hossein Daneshvar, Rona Graham, and Michael R. Hayden: (CA)_n-dinucleotide repeat at the PDEB locus in 4p16.3
Hum. Mol. Genet. 1993 2: 827; doi:10.1093/hmg/2.6.827 [PDF] [Request Permissions]

Luis A. Pérez-Jurado and Uta Francke: Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating polypeptide (PACAP) gene
Hum. Mol. Genet. 1993 2: 827; doi:10.1093/hmg/2.6.827-a [PDF] [Request Permissions]

Winston Thomas and Dennis Drayna: A polymorphic dinucleotide repeat at the D8S339 locus
Hum. Mol. Genet. 1993 2: 828; doi:10.1093/hmg/2.6.828 [PDF] [Request Permissions]

R.Cutler Allen, Melanie K. Spriggs, and John W. Belmont: Dinucleotide repeat polymorphism in the human CD40 ligand gene
Hum. Mol. Genet. 1993 2: 828; doi:10.1093/hmg/2.6.828-a [PDF] [Request Permissions]

Jill Dixon and Michael J. Dixon: Trinucleotide repeat polymorphism at the D5S373 locus
Hum. Mol. Genet. 1993 2: 829; doi:10.1093/hmg/2.6.829 [PDF] [Request Permissions]

I. Velonà, S. Zappata, C.M.J. Tops, R. Fodde, P.Meera Khan, G. Neri, and C. Brahe: Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the D5S524 locus
Hum. Mol. Genet. 1993 2: 829; doi:10.1093/hmg/2.6.829-a [PDF] [Request Permissions]

NEW HUMAN DNA POLYMORPHISMS UPDATE:

: New human DNA polymorphisms submitted to the genome data base
Hum. Mol. Genet. 1993 2: 831-843; doi:10.1093/hmg/2.6.831 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1993 2: 845; doi:10.1093/hmg/2.6.845 [PDF] [Request Permissions]