Hum. Mol. Genet. -- Table of Contents (2 [8] )

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Contents: Volume 2, Number 8   August 1993   [Index by Author]

       COMMENTARY

       ORIGINAL ARTICLES

       SHORT REPORTS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       NEW HUMAN DNA POLYMORPHISMS

       Author index

       Corrigenda

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COMMENTARY:

Tristan Ward and Kay E. Davles: The leading role of STSs in genome mapping
Hum. Mol. Genet. 1993 2: 1097-1098; doi:10.1093/hmg/2.8.1097 [PDF] [Request Permissions]

ORIGINAL ARTICLES:

Jennifer M. Puck, Suzanne M. Deschenes, Joanne C. Porter, Amalla S. Dutra, Carolyn J. Brown, Huntington F. Willard, and Paula S. Henthorn: The interleukin-2 receptor ${gamma}$ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
Hum. Mol. Genet. 1993 2: 1099-1104; doi:10.1093/hmg/2.8.1099 [Abstract] [PDF] [Request Permissions]

Ronald G. Lafrenlère, Carolyn J. Brown, Sue Rider, Jamel Chelly, Patricia Taillon-Miller, A.Craig Chinault, Anthony P. Monaco, and Huntington F. Willard: 2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes
Hum. Mol. Genet. 1993 2: 1105-1115; doi:10.1093/hmg/2.8.1105 [Abstract] [PDF] [Request Permissions]

X.-Y. Guan, Jeffrey M. Trent, and Paul S. Meltzer: Generation of band-specific painting probes from a single microdissected chromosome
Hum. Mol. Genet. 1993 2: 1117-1121; doi:10.1093/hmg/2.8.1117 [Abstract] [PDF] [Request Permissions]

James L. Weber and Carmen Wong: Mutation of human short tandem repeats
Hum. Mol. Genet. 1993 2: 1123-1128; doi:10.1093/hmg/2.8.1123 [Abstract] [PDF] [Request Permissions]

David L. Nell and Alec J. Jeffreys: Digital DNA typing at a second hypervariable locus by minisatellite variant repeat mapping
Hum. Mol. Genet. 1993 2: 1129-1135; doi:10.1093/hmg/2.8.1129 [PDF] [Request Permissions]

John A.L. Armour, Peter C. Harris, and Alec J. Jeffreys: Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability
Hum. Mol. Genet. 1993 2: 1137-1145; doi:10.1093/hmg/2.8.1137 [Abstract] [PDF] [Request Permissions]

Evan E. Eichler, Stephen Richards, Richard A. Gibbs, and David L. Nelson: Fine structure of the human FMR1 gene
Hum. Mol. Genet. 1993 2: 1147-1153; doi:10.1093/hmg/2.8.1147 [Abstract] [PDF] [Request Permissions]

Katrina Mackay, Peter H. Byers, and Raymond Dalglelsh: An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the ${alpha}$ 1 chain of type I collagen: application to four patients with osteogenesis imperfecta
Hum. Mol. Genet. 1993 2: 1155-1160; doi:10.1093/hmg/2.8.1155 [Abstract] [PDF] [Request Permissions]

Michael J. Francis, Karen E. Morrison, Louise Campbell, Prabhjit K. Grewal, Zóe Christodoulou, Rachael J. Daniels, Anthony P. Monaco, Anne-Marie Frischauf, John McPherson, John Wasmuth, and Kay E. Davies: A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13
Hum. Mol. Genet. 1993 2: 1161-1167; doi:10.1093/hmg/2.8.1161 [Abstract] [PDF] [Request Permissions]

Terrl G. Thompson, Karen E. Morrison, Patrick Kleyn, Ulla Bengtsson, T.Conrad Gilliam, Kay E. Davies, John J. Wasmuth, and John D. McPherson: High resolution physical map of the region surrounding the spinal muscular atrophy gene
Hum. Mol. Genet. 1993 2: 1169-1176; doi:10.1093/hmg/2.8.1169 [Abstract] [PDF] [Request Permissions]

Wanguo Liu, Marie Plechockl, Viji Shridhar, Gregory Lyles, Zheng Song, Yasuke Nakamura, Harry Drabkin, Jeffrey Vance, and David I. Smith: The isolation of a yeast artificial chromosome (YAC) contig extending for 2 megabases in the vicinity of the Von Hippel Lindau disease gene
Hum. Mol. Genet. 1993 2: 1177-1182; doi:10.1093/hmg/2.8.1177 [Abstract] [PDF] [Request Permissions]

Joy D.A. Delhanty, Darren K. Griffin, Alan H. Handyside, Joyce Harper, Glenn H.G. Atkinson, Math H.E.C. Pieters, and Robert M.L. Winston: Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation, (FISH)
Hum. Mol. Genet. 1993 2: 1183-1185; doi:10.1093/hmg/2.8.1183 [Abstract] [PDF] [Request Permissions]

Samuel S. Chong, Kristlelfur Kristjansson, Juan Cota, Alan H. Handyslde, and Mark R. Hughes: Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences
Hum. Mol. Genet. 1993 2: 1187-1191; doi:10.1093/hmg/2.8.1187 [Abstract] [PDF] [Request Permissions]

Jacques Simard, Jean Feunteun, Gilbert Lenoir, Patricia Tonin, Thlerry Normand, Van Luu The, Anne Vivler, Dana Lasko, Kenneth Morgan, Guy A. Rouleau, Henry Lynch, Femand Labrie, and Steven A. Narod: Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12–21: exclusion of candidate genes EDH17B2 and RARA
Hum. Mol. Genet. 1993 2: 1193-1199; doi:10.1093/hmg/2.8.1193 [Abstract] [PDF] [Request Permissions]

Eliezer J. Holtzman, Lee F. Kolakowskl, Jr., David O'Brien, John D. Crawford, and Dennis A. Ausiello: A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred
Hum. Mol. Genet. 1993 2: 1201-1204; doi:10.1093/hmg/2.8.1201 [Abstract] [PDF] [Request Permissions]

Hee-Chan Seo, Patrick J. Willems, and John S. O'Brien: Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations
Hum. Mol. Genet. 1993 2: 1205-1208; doi:10.1093/hmg/2.8.1205 [Abstract] [PDF] [Request Permissions]

Mireille Claustres, Maguelone Laussel, Marie Desgeorges, Muriel Giansily, Jean-Françols Culard, Gaby Razakatsara, and Jacques Demaille: Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France
Hum. Mol. Genet. 1993 2: 1209-1213; doi:10.1093/hmg/2.8.1209 [Abstract] [PDF] [Request Permissions]

Marc Sanson, Claude Marineau, Chantale Desmaze, Mohini Lutchman, Martin Ruttledge, Chantal Baron, Steven Narod, Olivier Delattre, Gilbert Lenoir, Gilles Thomas, Alain Aurlas, and Guy A. Rouleau: Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus
Hum. Mol. Genet. 1993 2: 1215-1220; doi:10.1093/hmg/2.8.1215 [Abstract] [PDF] [Request Permissions]

Gert Jansen, Marisa Bartolomel, Vera Kalscheuer, Gerard Merkx, Nicole Wormskamp, Edwin Mariman, Dominique Smeets, Hans-Hilger Ropers, and Bé Wleringa: No imprinting involved in the expression of DM-kinase m RNAs in mouse and human tissues
Hum. Mol. Genet. 1993 2: 1221-1227; doi:10.1093/hmg/2.8.1221 [Abstract] [PDF] [Request Permissions]

Anna-Ellna Lehesjokl, Marjaleena Koskiniemi, Reljo Norio, Salvatore Tirrito, Perttl Sistonen, Eric Lander, and Albert de la Chapelle: Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping
Hum. Mol. Genet. 1993 2: 1229-1234; doi:10.1093/hmg/2.8.1229 [Abstract] [PDF] [Request Permissions]

Christophe Chevillard, Denis Le Paslier, Edith Passage, Pierre Ougen, Alain Billault, Sylvie Boyer, Sylvie Mazan, Jean Pierre Bachellerie, Alain Vignal, Daniel Cohen, and Michel Fontes: Relationship between Charcot - Marie-Tooth 1A and Smith - Magenis regions. snU3 may be a candidate gene for the Smith - Magenis syndrome
Hum. Mol. Genet. 1993 2: 1235-1243; doi:10.1093/hmg/2.8.1235 [Abstract] [PDF] [Request Permissions]

Maja Bucan, Biljana Gatalica, Patrick Nolan, Alice Chung, Alena Leroux, Mark H. Grossman, Joseph H. Nadeau, Beverly S. Emanuel, and Marcia Budarf: Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse
Hum. Mol. Genet. 1993 2: 1245-1252; doi:10.1093/hmg/2.8.1245 [Abstract] [PDF] [Request Permissions]

Yiping Yang, Daniel C. Devor, John F. Engelhardt, Stephen A. Ernst, Theresa V. Strong, Francis S. Collins, Jonathan A. Cohn, Raymond A. Frizzell, and James M. Wilson: Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR
Hum. Mol. Genet. 1993 2: 1253-1261; doi:10.1093/hmg/2.8.1253 [Abstract] [PDF] [Request Permissions]

Hélène Hofmann-Radvanyi, Christian Lavedan, Jean-Pierre Rabès, Daniel Savoy, Chantal Duros, Keith Johnson, and Claudine Junien: Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele
Hum. Mol. Genet. 1993 2: 1263-1266; doi:10.1093/hmg/2.8.1263 [Abstract] [PDF] [Request Permissions]

Katrina F. Cooper, Richard B. Fisher, and Chris Tyler-Smith: The major centromeric array of alphoid satellite DNA on the human Y chromosome is non-palindromic
Hum. Mol. Genet. 1993 2: 1267-1270; doi:10.1093/hmg/2.8.1267 [Abstract] [PDF] [Request Permissions]

Richard D. Goold, Guy L. diSibio, Haidong Xu, David B. Lang, Jahan Dadgar, Gregg G. Magrane, Achilles Dugaiczyk, Kristen A. Smith, David W. Cox, Susan B. Masters, and Richard M. Myers: The development of sequence-tagged sites for human chromosome 4
Hum. Mol. Genet. 1993 2: 1271-1288; doi:10.1093/hmg/2.8.1271 [Abstract] [PDF] [Request Permissions]

SHORT REPORTS:

Belén Pérez, Lourdes R. Desviat, Mar Die, Verónica Cornejo, Nestor A. Chamoles, Humberto Nicolini, and Magdalena Ugarte: Presence of the Mediterranean PKU mutation IVS10 in Latin America
Hum. Mol. Genet. 1993 2: 1289-1290; doi:10.1093/hmg/2.8.1289 [PDF] [Request Permissions]

Clare Bartram, Richard H.T. Edwards, John Clague, and Robert J. Beynon: McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases
Hum. Mol. Genet. 1993 2: 1291-1293; doi:10.1093/hmg/2.8.1291 [Abstract] [PDF] [Request Permissions]

Yehoshua Ravia, Orly Braier-Goldstein, Katznelson Mariassa Bat-Miriam, Shai Erlich, Gad Barkai, and Boleslaw Goldman: X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus
Hum. Mol. Genet. 1993 2: 1295-1297; doi:10.1093/hmg/2.8.1295 [Abstract] [PDF] [Request Permissions]

Paul Dickinson, Wendy L. Kimber, Fiona M. Kilanowski, Barbara J. Stevenson, David J. Porteous, and Julia R. Dorin: High frequency gene targeting using insertional vectors
Hum. Mol. Genet. 1993 2: 1299-1302; doi:10.1093/hmg/2.8.1299 [PDF] [Request Permissions]

Setsuko lI and Steve S. Sommer: The high frequency of TTR M³⁰ in familial amyloidotic polyneuropathy is not due to a founder effect
Hum. Mol. Genet. 1993 2: 1303-1305; doi:10.1093/hmg/2.8.1303 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Ulus Atasoy, Colette J. Norby-Slycord, and M.Louise Markert: A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency
Hum. Mol. Genet. 1993 2: 1307-1308; doi:10.1093/hmg/2.8.1307 [PDF] [Request Permissions]

Erica Vielhaber, David P. Jacobson, Rhett P. Ketterling, Jing-Zhong Liu, and Steve S. Sommer: A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B
Hum. Mol. Genet. 1993 2: 1309-1310; doi:10.1093/hmg/2.8.1309 [PDF] [Request Permissions]

Lorne A. Clarke and Hamish S. Scott: Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the ${alpha}$ -L-iduronidase gene
Hum. Mol. Genet. 1993 2: 1311-1312; doi:10.1093/hmg/2.8.1311 [PDF] [Request Permissions]

Thilo Dörk, Rainer Fislage, Ulrich Rappen, and Burkhard Tümmler: Severe splice site mutation preceding exon 9 of the CFTR gene
Hum. Mol. Genet. 1993 2: 1313-1314; doi:10.1093/hmg/2.8.1313 [PDF] [Request Permissions]

D.H. Llewellyn, S. Whatley, and G.H. Elder: Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase
Hum. Mol. Genet. 1993 2: 1315-1316; doi:10.1093/hmg/2.8.1315 [PDF] [Request Permissions]

Miguel Chillón, Teresa Casals, Virginia Nunes, Javier Giménez, and Xavier Estivill: Identification of a 31-bp insertion (3860ins31) in exon 20 of the cysticfibrosis (CFTR) gene
Hum. Mol. Genet. 1993 2: 1317-1318; doi:10.1093/hmg/2.8.1317 [PDF] [Request Permissions]

R. Sztrolovics, F.H. Glorieux, M. van der Rest, and P.J. Roughley: Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta
Hum. Mol. Genet. 1993 2: 1319-1321; doi:10.1093/hmg/2.8.1319 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

A.L. Biddinger, J.T. Hecht, and D.M. Milewicz: Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2)
Hum. Mol. Genet. 1993 2: 1323; doi:10.1093/hmg/2.8.1323 [PDF] [Request Permissions]

Nabil Moghrabi, Maureen Boxer, and Brian Burchell: Three Mspl polymorphisms at the UGT1 locus
Hum. Mol. Genet. 1993 2: 1324; doi:10.1093/hmg/2.8.1324 [PDF] [Request Permissions]

C. Conover Talbot, Jr, Andrew C. Warren, Dimitris Avramopoulos, and Stylianos E. Antonarakis: Polymorphic dinucleotide repeats at the D3S1417, D3S1418 and D12S271 loci
Hum. Mol. Genet. 1993 2: 1325; doi:10.1093/hmg/2.8.1325 [PDF] [Request Permissions]

Hua Li, Laura Schmidt, Fuh-Mei C. Duh, Ming-Hui Wei, Farida Latif, Thomas Stackhouse, Michael I. Lerman, Berton Zbar, and Kalman Tory: Three polymorphic dinucleotide repeats near the von Hippel Lindau (VHL) disease gene on human chromosome 3:D3S587; D3S1317; D3S1435
Hum. Mol. Genet. 1993 2: 1326; doi:10.1093/hmg/2.8.1326 [PDF] [Request Permissions]

Hua Li, Laura Schmidt, Ming-Hui Wei, Thomas Hustad, Michael I. Lerman, Berton Zbar, and Kalman Tory: Three tetranucleotide polymorphisms for loci: D3S1352; D3S1358; D3S1359
Hum. Mol. Genet. 1993 2: 1327; doi:10.1093/hmg/2.8.1327 [PDF] [Request Permissions]

Philippe Burlet, Sonia Abdelhak, Fabrice Pascal, Olivier Clermont, Barbara Paul, Arnold Munnich, and Judith Melki: Trinucleotide repeat polymorphism at the D5S556 locus
Hum. Mol. Genet. 1993 2: 1328; doi:10.1093/hmg/2.8.1328 [PDF] [Request Permissions]

G. Goulielmos, D. Angelicheva, M. Kapsetaki, M. Manifava, and N.K. Moschonas: A chromosome 10p11.2 GT-dinucleotide repeat polymorphism at the GLUDP5 gene locus
Hum. Mol. Genet. 1993 2: 1328; doi:10.1093/hmg/2.8.1328-a [PDF] [Request Permissions]

William Byerley, Akbar S. Khan, John Holik, Mark Hoff, and James M. Sikela: Dinucleotide repeat polymorphism in the 3'untranslated region of an anonymous brain cDNA mapping to chromosome 2 (D2S230)
Hum. Mol. Genet. 1993 2: 1329; doi:10.1093/hmg/2.8.1329 [PDF] [Request Permissions]

Masamitsu Honma, Khonosuke Mitani, Hiroshi Mizusawa, Makoto Hayashi, Toshio Sofuni, Masami Muramatsu, and Ryo Komonami: A new VNTR polymorphism at locus D1S340
Hum. Mol. Genet. 1993 2: 1329; doi:10.1093/hmg/2.8.1329-a [PDF] [Request Permissions]

Frank G. Hustmye, Ernestina Schipani, and Munro Peacock: Bsml polymorphism at the parathyroid hormone receptor locus (PTHR) in three populations
Hum. Mol. Genet. 1993 2: 1330; doi:10.1093/hmg/2.8.1330 [PDF] [Request Permissions]

Ruth A. Decker and Francis S. Collins: Dinucleotide repeat polymorphism at the D10S469 locus
Hum. Mol. Genet. 1993 2: 1330; doi:10.1093/hmg/2.8.1330-a [PDF] [Request Permissions]

Kimmo I. Virtaneva, Heli Nevanlinna, and Jim Schroder: Bg/ll restriction fragment length polymorphism at the gene locus coding for the leukocyte surface antigen CD37
Hum. Mol. Genet. 1993 2: 1331; doi:10.1093/hmg/2.8.1331 [PDF] [Request Permissions]

Biagio La Pillo, Hermann-Josef Lüdecke, Hans-Jürgen Thiesen, and Bernhard Horsthemke: A Banll RFLP in the ZNF34 zinc finger gene on chromosome 8
Hum. Mol. Genet. 1993 2: 1331; doi:10.1093/hmg/2.8.1331-a [PDF] [Request Permissions]

D.L. Browne, V.van Heyningen, W. Bickmore, and M. Litt: Dinucleotide repeat polymorphism at the D11S995 locus
Hum. Mol. Genet. 1993 2: 1332; doi:10.1093/hmg/2.8.1332 [PDF] [Request Permissions]

K.L. Phillips, D.M. Gartrell, A.D. Roses, and J.E. Lee: A triplet repeat polymorphism in a gene expressed in human hypothalamus
Hum. Mol. Genet. 1993 2: 1332; doi:10.1093/hmg/2.8.1332-a [PDF] [Request Permissions]

R.T. Drews, G. Lagacé, R.A. Gravel, and R. Collu: SSCP polymorphism in exon 8B of the human G proteina ${alpha}$ O2 subunit (GNA01) gene
Hum. Mol. Genet. 1993 2: 1333; doi:10.1093/hmg/2.8.1333 [PDF] [Request Permissions]

NEW HUMAN DNA POLYMORPHISMS:

: New human DNA polymorphisms submitted to the genome data base
Hum. Mol. Genet. 1993 2: 1335-1344; doi:10.1093/hmg/2.8.1335 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1993 2: 1345; doi:10.1093/hmg/2.8.1345 [PDF] [Request Permissions]

Corrigenda:

A.V. Winnard, C.J. Klein, D.D. Coovert, T. Prior, A. Papp, P. Snyder, D.E. Bulman, P.N. Ray, P. McAndrew, W. King, R.T. Moxley, and J.R. Mendell: Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy
Hum. Mol. Genet. 1993 2: 1347; doi:10.1093/hmg/2.8.1347 [Abstract] [PDF] [Request Permissions]

B.E. Nichols, A.V. Drack, K. Vandenburgh, A.E. Kimura, V.C. Sheffield, and E.M. Stone: A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea
Hum. Mol. Genet. 1993 2: 1347; doi:10.1093/hmg/2.8.1347-a [Abstract] [PDF] [Request Permissions]

A.J.M.H. Verkerk, E. de Graaff, K. De Boulle, E.E. Eichler, D.S. Konecki, E. Reyniers, A. Manca, A. Poustka, P.J. Willems, D.L. Nelson, and B.A. Oostra: Alternative splicing in the fragile X gene FMR1
Hum. Mol. Genet. 1993 2: 1348; doi:10.1093/hmg/2.8.1348 [Abstract] [PDF] [Request Permissions]

Human Molecular Genetics