Human Molecular Genetics

MINI REVIEW:

Anthony J. Brookes

Genome mapping and sequencing 1992: a meeting report: Genome mapping and sequencing 1992: a meeting report
Hum. Mol. Genet. 1992 1: 359-362; doi:10.1093/hmg/1.6.359 [PDF] [Request Permissions]  

ORIGINAL ARTICLES:

Jon A. Wolff, James J. Ludtke, Gyula Acsadi, Philip Williams, and Agnes Jani

Long-term persistence of plasmid DNA and foreign gone expression in mouse muscle
Hum. Mol. Genet. 1992 1: 363-369; doi:10.1093/hmg/1.6.363 [Abstract] [PDF] [Request Permissions]  

Markus Wolf, Jörg Klug, Reinhard Hackenberg, Manfred Gessler, Karl-Heinz Grzeschik, Miguel Beato, and Guntram Suske

Human CC10, the homologue of rabbit uteroglobin: genomic cloning, chromosomal localization and expression in endometrial cell lines
Hum. Mol. Genet. 1992 1: 371-378; doi:10.1093/hmg/1.6.371 [Abstract] [PDF] [Request Permissions]  

Amanda J. O'Reilly, Nabeel A. Affara, Elizabeth Simpson, Phillip Chandler, Els Goulmy, and Malcolm A. Ferguson-Smith

A molecular deletion map of the Y chromosome long arm defining X and autosomal homologous regions and the localisation of the HYA locus to the proximal region of the Yq euchromatin
Hum. Mol. Genet. 1992 1: 379-385; doi:10.1093/hmg/1.6.379 [Abstract] [PDF] [Request Permissions]  

Shigetoshi Ichii, Akira Horii, Shuichi Nakatsuru, Junichi Furuyama, Joji Utsunomiya, and Yusuke Nakamura

Inactivation of both APC alleles in an early stage of colon adenomas in a patient with familial adenomatous polyposis (FAP)
Hum. Mol. Genet. 1992 1: 387-390; doi:10.1093/hmg/1.6.387 [Abstract] [PDF] [Request Permissions]  

Anna Krook, Irene M. Stratton, and Stephen O'Rahilly

Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulindependent diabetes
Hum. Mol. Genet. 1992 1: 391-395; doi:10.1093/hmg/1.6.391 [Abstract] [PDF] [Request Permissions]  

James S. Sutcliffe, David L. Nelson, Fuping Zhang, Maura Pieretti, C. Thomas Caskey, Debra Saxe, and Stephen T. Warren

DNA methylation represses FMR-1 transcription in fragile X syndrome
Hum. Mol. Genet. 1992 1: 397-400; doi:10.1093/hmg/1.6.397 [Abstract] [PDF] [Request Permissions]  

Keiji Tamaki, Darren G. Monckton, Annette MacLeod, David L. Neil, Maxine Allen, and Alec J. Jeffreys

Minisatellite variant repeat (MVR) mapping: analysis of ‘null’ repeat units at D1S8
Hum. Mol. Genet. 1992 1: 401-406; doi:10.1093/hmg/1.6.401 [Abstract] [PDF] [Request Permissions]  

B.J. Padanilam, H.S. Stadler, K.A. Mills, L.B. McLeod, M. Solursh, B. Lee, F. Ramirez, K.H. Buetow, and J.C. Murray

Characterization of the human HOX 7 cDNA and identification of polymorphic markers
Hum. Mol. Genet. 1992 1: 407-410; doi:10.1093/hmg/1.6.407 [Abstract] [PDF] [Request Permissions]  

Siobhán A. Jordan, Teresa del Rio, Nuria Soriano, Blanca Garcia-Sandoval, Paul Kenna, Carmen Ayuso, Javier Benitez, and Peter Humphries

Autosomal dominant Retinitis Pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus
Hum. Mol. Genet. 1992 1: 411-415; doi:10.1093/hmg/1.6.411 [Abstract] [PDF] [Request Permissions]  

Akira Kuwano, Apiwat Mutirangura, Baerbel Dittrich, Bernhard Horsthemke, Shinji Saitoh, Norio Nikawa, Susan A. Ledbetter, Frank Greenberg, A. Craig Chinault, and David H. Ledbetter

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis
Hum. Mol. Genet. 1992 1: 417-425; doi:10.1093/hmg/1.6.417 [Abstract] [PDF] [Request Permissions]  

Karin Sege-Peterson, James Chambers, Theodore Page, Oliver W. Jones, and William L. Nyhan

Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency
Hum. Mol. Genet. 1992 1: 427-432; doi:10.1093/hmg/1.6.427 [Abstract] [PDF] [Request Permissions]  

Georg Melmer and Manuel Buchwald

Identification of genes using oligonucleotides corresponding to splice site consensus sequences
Hum. Mol. Genet. 1992 1: 433-438; doi:10.1093/hmg/1.6.433 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORTS:

S. Shackleton, F. Beards, and A. Harris

Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP
Hum. Mol. Genet. 1992 1: 439-440; doi:10.1093/hmg/1.6.439 [PDF] [Request Permissions]  

W. Lissens, M. Bonduelle, A. Malfroot, I. Dab, and I. Liebaers

A Serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene
Hum. Mol. Genet. 1992 1: 441-442; doi:10.1093/hmg/1.6.441 [PDF] [Request Permissions]  

J.F. Diedrich, D.S. Knopman, J.F. List, K. Olson, W. H. Frey, II, C.R. Emory, J.H. Sung, and A.T. Haase

Deletion in the prion protein gene in a demented patient
Hum. Mol. Genet. 1992 1: 443-444; doi:10.1093/hmg/1.6.443 [PDF] [Request Permissions]  

S. Shackleton and A. Harris

G27X: a novel mutation in exon 2 of the CF gene
Hum. Mol. Genet. 1992 1: 445; doi:10.1093/hmg/1.6.445 [PDF] [Request Permissions]  

HUMAN DNA MARKERS:

Robert A. Furlong, Jon E.W. Lyall, Michael J. Lush, Nabeel A. Affara, and Malcolm A. Ferguson-Smith

Four dinucleotide repeat polymorphisms on chromosome 9 (D9S143–146)
Hum. Mol. Genet. 1992 1: 447; doi:10.1093/hmg/1.6.447 [PDF] [Request Permissions]  

M.A. Shaw, S.E. Atkinson, Z. Li, D. Paulin, and J.M. Blackwell

EcoRV RFLP of the desmin (DES) gene and Mspl RFLP of the villin (VIL1) gene on human chromosome 2
Hum. Mol. Genet. 1992 1: 448; doi:10.1093/hmg/1.6.448 [PDF] [Request Permissions]  

A. Wehnert, M. Cruts, H. Backhovens, J.M. Delabar, G. Thomas, and C. Van Broeckhoven

Dinucleotide repeat polymorphism at the D21S258 locus
Hum. Mol. Genet. 1992 1: 449; doi:10.1093/hmg/1.6.449 [PDF] [Request Permissions]  

F.S. di Giovine, E. Takhsh, A.I.F. Blakemore, and G.W. Duff

Single base polymorphism at –511 in the human interleukin-1ß gene (IL1ß)
Hum. Mol. Genet. 1992 1: 450; doi:10.1093/hmg/1.6.450 [PDF] [Request Permissions]  

L. Papi, A. Tunnacliffe, and BAJ. Ponder

Dinucleotide repeat polymorphism at the RBP3 locus in chromosome band 10q11.2
Hum. Mol. Genet. 1992 1: 450; doi:10.1093/hmg/1.6.450-a [PDF] [Request Permissions]  

S.R. Crow, H.G. Harley, J.D. Brook, S.A. Rundle, and D.J. Shaw

Insertion/deletion polymorphism at D19S95 associated with the myotonic dystrophy CTG repeat
Hum. Mol. Genet. 1992 1: 451; doi:10.1093/hmg/1.6.451 [PDF] [Request Permissions]  

E.J. Petersen and R.I. Handin

Taql and Bsu361 polymorphisms in the human glycoprotein Ib gene (GPIB)
Hum. Mol. Genet. 1992 1: 451; doi:10.1093/hmg/1.6.451-a [PDF] [Request Permissions]  

Olaf Riess, Bernhard Weber, and Michael R. Hayden

(CA)_n-dinucleotide repeat polymorphism at the locus for the alpha2C adrenergic receptor (ADRA2C) on 4p16
Hum. Mol. Genet. 1992 1: 452; doi:10.1093/hmg/1.6.452 [PDF] [Request Permissions]  

Hua Li, Kalman Tory, Fuh-Mei C. Duh, Laura Schmidt, Ming-Hui Wei, Michael I. Lerman, and Berton Zbar

A microsatellite polymorphic probe on chromosome 3p: LIB12–2CATT (D3S1244)
Hum. Mol. Genet. 1992 1: 452; doi:10.1093/hmg/1.6.452-a [PDF] [Request Permissions]  

M.M. Humphries, D.M. Sheils, S.A. Jordan, G.J. Farrar, R. Kumar-Singh, and P. Humphries

Alu polymorphism in the human type I Keratin (KRT14) gene
Hum. Mol. Genet. 1992 1: 453; doi:10.1093/hmg/1.6.453 [PDF] [Request Permissions]  

M. Reina and S. Deeb

SSCP polymorphism in the human hepatic triglyceride lipase (LIPC) gene
Hum. Mol. Genet. 1992 1: 453; doi:10.1093/hmg/1.6.453-a [PDF] [Request Permissions]  

Konstantin E. Petrukhin and T.Conrad Gilliam

Dinucleotide repeat polymorphism at the D1S182 locus
Hum. Mol. Genet. 1992 1: 454; doi:10.1093/hmg/1.6.454 [PDF] [Request Permissions]  

Konstantin E. Petrukhin and T. Conrad Gilliam

Dinucleotide repeat polymorphism at the D19S206 locus
Hum. Mol. Genet. 1992 1: 454; doi:10.1093/hmg/1.6.454-a [PDF] [Request Permissions]  

L.E. Bernard and S. Wood

Dinucleotide repeat polymorphism at the D5S253 locus
Hum. Mol. Genet. 1992 1: 455; doi:10.1093/hmg/1.6.455 [PDF] [Request Permissions]  

J.A. Trofatter, M.L. Sytsma, J.F. Gusella, and J.L. Haines

Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2)
Hum. Mol. Genet. 1992 1: 455; doi:10.1093/hmg/1.6.455-a [PDF] [Request Permissions]  

Author Index:

Author index
Hum. Mol. Genet. 1992 1: 457; doi:10.1093/hmg/1.6.457 [PDF] [Request Permissions]  

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