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CONTENTS
Preface xxiii
Acknowledgements xxv
GENETIC DISEASE GENES
MAPPING OF HUMAN Xq27Mark Hirst, Ruth MacKinnon, Yutaka Nakahori,
Martyn Bell, Anya Roche, Tracey Flint and Kay Davies 2
TOWARD CLONING OF THE X-LINKED LYMPHOPROLIFERATIVE
DISEASE (XLP): SUSCEPTIBILITY TO EPSTEIN-BARR VIRUS (EBV)
GENE
D. Purtilo, J. Sumegi, M.F. Victoria, J. Davis, H. Grierson, D. Nelsonand C.T. Caskey 2
THE RETINOBLASTOMAPROTEIN INHIBITS THE REPLICATION OF
SV40 DNA IN RECONSTITUTED RETINOBLASTOMA AND
OSTEOSARCOMA CELLS
Eva Uzvolgyi, Marie Classon, Marie Henriksson, Huei-Jen Su Huang,Wen-Hwa Lee, George Klein and Janos Sumegi 3
MEIOTIC AND MITOTIC MAPPING OF GENETIC LESIONS INVOLVED
IN THE BECKWITH-WIEDEMANNSYNDROME AND ITS ASSOCIATED
TUMORS
W.K. Cavenee 4
DEFINITION BY IN SITU HYBRIDIZATION OF THE PROXIMAL
BREAKPOINT OF A DE NOVO DELETION 1 (P21-P31) IN A CHILD
D. Berube, J. Simard, F. Labrie and R. Gagne 5
CpG AS A HOTSPOT OF MUTATION: EFFECT ON G+ C CONTENT
M.J. Bottema, C.D.K. Bottema, R.P. Ketterling, H-S. Yoonand S.S. Somraer 5
ANALYSIS OF HUMAN ZINC FINGER GENES
P. Bray, P. Lichter, D. Ward and I. Dawid 6
A HINFI RESTRICTION FRAGMENTLENGTHPOLYMORPHISM
IN THE HUMAN TROPOELASTIN GENE
Angela M. Christiano and Charles D. Boyd 6
THE BOVINE CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE
REGULATOR cDNA: USE OFPCRTO ISOLATE PHYLOGENETICALLY
RELATED SEQUENCESG. Diamond, T.F. Scanlin, M.A. Zasloffand C.L. Bevins 7
in
REPLACEMENT OF A SINGLE EXTRACELLULAR PHENYLALANINE
RESIDUE IN THE GROWTHHORMONE ORPROLACTIN RECEPTOR
ABOLISHES GROWTH HORMONE OR PROLACTIN BINDING
M. Edery, M. Rozakis, C. Levi-Meyrueis, L. Lesueur,M.-C. Postel-Vinay, J. Djiane and PA. Kelly 7
MOLECULAR GENETICS OF ASPARTYLGLUCOSAMINURIA
K.J. Fisher, O.K. Tollersrud and N.N. Aronson, Jr. 8
THE HUMAN RETICULOCYTE AND LIVER CYTOCHROME
B5 mRNA's ARE THE PRODUCTS OF ONE GENES. Giordano and A.W. Steggles 8
FAMILIAL X-LINKED MENTAL RETARDATION (XLMR)
CORRELATES WITH A RFLPPROXIMAL TO FRAGILE X
Bert Gold, Alice Lazzarini and Michael K. McCormack 9
MUTATIONAL ANALYSIS OF THE CYSTIC FIBROSIS
TRANSMEMBRANE CONDUCTANCE REGULATOR
R.J. Gregory, S.H. Cheng, D.P. Rich, M.P. Anderson,D.W. Souza, S. Paul, J. Marshall, G. White, C. O'Riordan,M.J. Welsh and A.E. Smith 9
MAPPING OF THE GENE FOR X-LINKED LIVER GLYCOGENOSIS
DUE TO PHOSPHORYLASE KINASE DEFICIENCY TO HUMAN
CHROMOSOME REGION Xp22Jan Hendrickx, Peter Raeymaekers and Patrick J. Willems 10
CLONING OF cDNA FOR THE HUMAN PEROXISOMAL
BIFUNCTIONAL ENZYME: COMPARISON OF CONVENTIONAL
AND PCR METHODS
G. Hoefler, M. Forstner, W. Hulla and G.L. Chen 10
TENTATIVE ASSIGNMENT OF OTO-PALATO-DIGITAL
SYNDROME GENE TO DISTAL Xq (Xq26-q28)J.J. Hoo, D.I. Hoar, L.L. Field, F. Beards, G. Hoganson and B. Rollnick 11
ASPARTYLGLUCOSAMINURIA (AGU): cDNA ENCODING HUMAN
ASPARTYLGLUCOSAMINIDASE AND THE FINNISH AGU MUTATION
E. Ikonen, A.-C. Syvanen, M. Baumann, K, Gron, N. Enomaa,R. Halila, P. Aula and L. Peltonen 11
DETECTION OF POINT MUTATIONS IN THE ORNITHINE
AMINOTRANSFERASE GENE IN GYRATE ATROPHY USING
PCR, DENATURING GRADIENT GEL ELECTROPHORESIS, ANDDIRECT SEQUENCINGG. Inana and Y. Mashima 12
IV
DAMAGE-SPECIFIC DNA BINDING NUCLEAR PROTEINS FROMHUMAN CELLS
S. Kanjilal and W.D. Taylor 12
EXPRESSION OF RECOMBINANT NEUTROPHIL CYTOCHROME
b558 SUBUNITS USING THE BACULOVIRUS EXPRESSION SYSTEMJ.P. Katkin, H.L. Malech, P.M. Murphy and T.L. Leto 13
GENOMIC STRUCTURE ANDEXPRESSION REGULATION OF
LEUKOSIALIN (CD43), WHICH IS ALTERED IN X-LINKEDIMMUNODEFICIENCY, WISKOTT-ALDRICH SYNDROMES. Kudo andM. Fukuda 13
INDUCED EXPRESSION OF PiM AND PiZ-MUTATED FORMSOF THE ALPHAi-ANTITRYSPIN GENE IN TRANSFECTEDHUMAN SK-HEP1 CELLS
Deepak Lai, Andrew J. MacGinnitie, Edward S. Davis,Ernest F. Savransky and Edward M. Johnson 14
DIFFERENTIAL EXPRESSION OF ALDOLASE GENE
K. Laxminarayana and J.S. Murty 14
ISOLATION AND TRANSCRIPTIONAL CHARACTERIZATION OF
COSMID CLONES FROM THE REGION OF THE PKD1 GENE
ON HUMAN CHROMOSOME 16
T. Lerner, S. Graw, G. Landes, K. Klinger, D. Callen,D. Housman and A. Buckler 15
TRANSCRIPTION OF ARYLSULFATASE A IN PSEUDO-DEFICIENCY
Z.G. Li and P.L. Chang 15
DEFECTIVE FIBRINOGENS ASSOCIATED WITH THROMBOTIC
DISEASE
S.T. Lord, K. Koopman and F. Haverkate 16
cDNA CLONES OF THE HUMANTRANSKETOLASE GENE
B. McCool, P. Martin and C. Singleton 16
MOLECULAR STUDY IN THE WIEDEMANN-BECKWITH
SYNDROME, INCLUDINGA DISCORDANTMONOZYGOTIC
TWIN PAIR
D. Moretti-Ferreira, D.A.S. Batista, E.A. Torres, V.R.X. Scares,A.C.C. Barbosa and PA. Otto 17
MOLECULARANALYSIS OF ATYPICAL CASES OF
WISKOTT-ALDRICH SYNDROME
L.D. Notarangelo, O. Parolini, M. Lusardi, CM. Alberini,A. Alberini and A.G. Ugazio 17
EXCLUSION OF CALCITONIN/ALPHA-CGRP GENE AS BASIS
FOR DEFECT IN A FAMILY WITH AUTOSOMAL DOMINANT
SUPRAVALVULAR AORTIC STENOSIS
G.M. Pastores, V.V. Michels, D.J. Schaid, D.J. Driscoll, R.H. Feldtand S.N. Thibodeau 18
STUDY OF FRENCH FAMILIES AFFECTED BY THE VON HEPPEL
LINDAU DISEASE
S. Richard, G. Thomas, J.P. Fendler, J.P. Bardet, J. Couturier,J.P. Mery, D. Fohanno, J. Philippon, A. Moreau, M.T. Andre,J.P. Moisan and F. Resche 18
HIGH FREQUENCY OF P53 ALLELE LOSS IN SOLID HUMANBREAST TUMORS
S. Singh, M. Simon, I. Meybohm, K. Friedrichs, W. Jonat,H. Maass and H. Goedde 19
MOLECULAR HETEROGENEITY IN TYPE 1 HEREDITARY
TYROSINEMIA
Robert M. Tanguay and Daniel Phaneuf 19
CO-LOCALIZATION OF THE LOCUS FOR HUMAN NEPHROGENIC
DIABETES INSDPIDUS AND THE VASOPRESSIN TYPE-2 RECEPTOR
GENE IN THE Xq28 REGIONA. Van den Ouweland, P. Markslag, N. Knoers, H.H. Ropers,A. Poustka, D. Jans, F. Fahrenholz and B. Van Oost 20
CHROMOSOME ABNORMALITIES AND TUMORS IN SYNDROMES
LEADING TO OVERGROWTH
A. Wajntal, C.P. Koiffmann, D.H. Souza, D. Moretti-Ferreira 20
ALTERED CO-LOCALIZATION OF CU/ZN SUPEROXIDE DISMUTASE
AND CATALASE IN ZELWEGER DISEASE FIBROBLASTS
T.G. Warner, RA. Hallewell and GA. Keller 21
SEARCHING FOR GENES INVOLVED IN BECKWITH-WIEDEMANN
SYNDROME AND TUMOR DEVELOPMENT
A. Winterpacht, G. Senger, H.-J. Ludecke, U. Claussen,B. Horsthemke and B. Zabel 21
STUDffiS OF A NOVEL NK RECEPTOR MOIETY IN VON HIPPEL
LINDAU PATLENTS: ANALYSIS OF NK ACTIVITY AND RECEPTOR
GENOMIC DNA STRUCTURE
H.A. Young, J. Frey, B. Zbar, G. Glenn, S.K. Andersonand J.R. Ortaldo 22
VI
SEARCH FOR DEFECTIVE GENE(S) IN CONGENITAL HEREDITARYCATARACT OF THE MINIATURE SCHNAUZER DOGR.L. Zhang, D.A. Samuelson, V.N. Reddy and B.S. Shastry 22
GENETIC BASIS OF LIPOPROTEIN DISORDERSJan L. Breslow 23
MOLECULAR GENETICS OF DEVELOPMENTAL DYSLEXIAM.B. Rabin, X.L. Wen, M. Hepburn, R.C. Elston, K. Gross-Glenn,M.L. Lubs, R. Duara, B. Levin and H.A. Lubs 24
A POINT OF MUTATION UNDERLETS GLUCOSE/GALACTOSE
MALABSORPTION
E. Turk, S. Mundlos, B. Zabel and E.M. Wright 24
TWO ENTIRELY DIFFERENT LYSOSOMAL DISORDERS CAUSEDBY DEFECTS IN ONE GENE
D.A. Wenger, M.A. Rafi, X.-L. Zhang and G. DeGala 25
MITOCHONDRIAL GENES AND NEUROMUSCULAR DISEASE
Douglas C. Wallace, John M. ShorTner and Marie T. Lott 25
INCIDENCE OF SICKLE CELL TRAIT AND G6PD DEFlCffiNCYINANDH AND THOTI TRIBES OFANDHRA PRADESH, INDIAB. Ramesh Babu, Praveena Sabnekar and J.D. Goud 26
LOSS OF EXTRACELLLAR MATRIX IN EHLERS-DANLOS
SYNDROME PATIENTS' FIBROBLASTS IS ASSOCIATED WITH
DECREASED PRODUCTION OF CELLULAR FIBRONECTINS. Barlati, L. Moro, N. Zoppi, R. Gardella andM. Colombi 26
MOLECULAR AND BIOCHEMICALINVESTIGATION OF
ATYPICAL ANTERIOR HORN CELL DISEASE AND
NEUROFIBROMATOSIS-1: UNIQUE NF-1 MUTATIONSL. Baumbach, and E. Sujansky 27
HUMAN SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) ISAMETABOLIC DISEASE. INCREASED CHEMILUMINESCENCE
IS FOUND IN PHA STIMULATED LYMPHOCYTES FROM A
SUBGROUP OF SLE PATffiNTS AND IS CAUSALLY RELATED
TO DNA DAMAGE IN THESE CELLS
P.J. Benke, C. Mauldin, M. Novak and P. Belmar 27
MOLECULAR GENETIC EVIDENCE OF THE FOUNDEREFFECT IN
FAMILIAL HYPERCHOLESTEROLEMIA AMONG FRENCH CANADIANS
Christine Betard, M. Roy. A. Chamberland, S. Lussier-Cacan,J. Davignon and A.M. Kessling 28
VII
DNA REPAIR IN LYMPHOCYTES FROM PATIENTS WITH
NEURODEGENERATIVE DISEASES
M. Boerrigter, E. Mullaart and J. Vijg 28
ALTERATION OF FIBRONECTIN mRNA SPLICING IN
EHLERS-DANLOS SYNDROME PATIENTS FIBROBLASTS:
EVALUATION BY QUANTITATIVE IN SITU HYBRIDIZATION
M. Colombi, L. Moro, N. Zoppi, A. Ghinelli and S. Barlati 29
IDENTIFICATION AND CHARACTERISATION OF AN
AUTOANTIBODY WITH REGULATORY ACTIVITY:
C. Cunningham, W.J. Harris, D.A. Power, B. Weber
and I. Al-Muzairai 29
cDNA CLONING AND GENE MAPPING OF HUMAN
CARNITINE PALMITOYL-TRANSFERASE
G. Finocchiaro, F. Taroni, M. Rocchi, A. Liras, I. Colombo,G. Torri Tarelli and S. DiDonato 30
RFLP MAPPING OF THE HUMAN FIBRONECTIN GENE:
ALLELE FREQUENCY STUDY IN EHLERS-DANLOS SYNDROMEPATD3NTS
R. Gardella, M. Colombi, A. Ghinelli and S. Bartlati 30
cDNA CLONES ENCODING PORK AND HUMAN ETF:
UBIQUINONE OXIDOREDUCTASE; ISOLATION,CHARACTERISTICS AND MUTATIONS
S.I. Goodman, L. Bindoff and F.E. Frerman 31
A NEW APPROACH TO IDENTIFYING ABNORMAL mRNAs
FROM THALASSEMIC GLOBIN GENES: DIRECT DNA
SEQUENCING OF THE PCR AMPLIFIED cDNAsS.Z. Huang, F.Y. Zeng, G.P. Rodgers, A.N. Schechter,Z.R. Ren and Y.T. Zeng 31
GENDERAND EXOGENOUS HORMONES INFLUENCE
PATTERNS OF ASSOCIATION BETWEEN GENETIC
VARIABILITY IN APO B AND APO AI-CEI-AP/ GENE
REGIONS AND QUANTITATIVE VARLVTION IN LIPIDAND LIPOPROTEIN TRAITS
Anna M. Kessling, S. Ouellette, O. Bouffard,A. Chamberland, C. Betard, E. Selinger, M. Xhignesse,S. Lussier-Cacan and J. Davignon 32
VIII
GENETIC VARIATION OF APOLIPOPROTEIN E (apo E):THREE DIFFERENT TECHNIQUES BASED ON PCRAMPLIFICATION OF DNA
K. Kontula, K. Aalto-Setala, L. Harju, T. Kuusi,A.-C. Syvanen and H. Soderlund 32
HEREDITARY NON-SPHEROCYTIC HEMOLYTIC ANEMIA:A PYRUVATE KINASE MUTATION IN QUEBEC PATIENTSA. Larochelle, M. De Braekeleer, D. Marceau and E. de Medicis 33
X-LINKED SPINA BIFIDA-A LINKAGE ANALYSIS
R. Newton, S.C. Loughna, P.M. Stanier, 0. Jensson and G.E. Moore 33
A MISSENSE MUTATION (pro- >Leu207) in THE HUMANLIPOPROTEIN LIPASE GENE IS THE MAJORCAUSE OF
TYPE 1HYPERLD70PR0TEINEMIAIN FRENCH CANADIANS
Y. Ma, H.E. Henderson, P. Julien, G. Roederer, J. Brunzelland M.R. Hayden 34
APROCEDURE TO IDENTIFY FAMILIES WITH AMATERNALPATTERN OF INHERITANCE OF NEURAL TUBE DEFECTS
E.C.M.MarimanandB.CJ.Hamel 34
MAPPING OF CIS- AND TRANS-REGULATORYELEMENTS OF
THE HUMAN APO AIAND ATV GENES
M.P. Merville-Louis, M. Jacquet and J. Poncin 35
DEVELOPMENT OF POLYMORPHIC DNAMARKERS IN THE
FAMILIAL ALZHEIMER DISEASE REGION ON CHROMOSOME 21
I. Meulenbelt, J. Vijg and A.G. Uitterlinden 35
THE MOLECULAR BASIS OF FACTORS IX AND X DEFICD2NCY
M.W. Odom, G. Leone, V. DeStefano, M.M. Montiel, G. Lymanand P. Jagadeeswaran 36
IDENTIFICATION OF MUTATIONS IN TWO FAMILEES
WIH SPORADIC HEMOPHILIA A
C. Paynton, G. Sarkar and S.S. Sommer 36
EPIDERMOLYSIS BULLOSA: EVIDENCE FOR POSSIBLE
LINKAGE TO GENETIC MARKERS ON CHROMOSOME 1
INTWO FAMILIES WITH THE AUTOSOMAL DOMINANT
SIMPLEX FORM
Markku Ryynanen, Marion Humphries, Denise Sheils,RobertKnowlton, Peter Humphries, and Jouni Uitto 37
IX
cDNA SEQUENCE OF THE VH REGION OF A FOETALLYDERIVED MONOCLONAL ANTIBODY EXPRESSING ID F-423
AND CAPABLE OF INDUCING LUPUS DISEASE
NA. Staines, C. Ravirajan, W.J. Harris and C. Cunningham 37
STRUCTURE OF TRANSTHYRETIN MOLECULES IN AMYLOID
FIBRILS FROM THE VITREOUS BODY IN INDIVIDUALS CARRYING
THE MET30 MUTATION
C. Thylen, J. Wahlquist, E. Haettner, O. Sandgren, G. HolmgrenandE. Lundgren 38
MITOCHONDRIAL DNA MUTATION IN A CHINESE FAMILY
WITH LEBER'S HEREDITARY OPTIC NEUROPATHY
Y.H. Wei, M.Y. Yen, C.Y. Pang, J.L. Tsai and T.C. Yen 38
G+5 TO T MUTATION IN INTRON 37 OF THE TYPEm
PROCOLLAGEN GENE (COL3A1) CAUSES ABERRANT RNA SPLICING
IN A PROBAND WITH STROKES AND A BLEEDING TENDENCY
Y. Wu, G. Tromp, H. Kuivaniemi and D.J. Prockop 39
APPLICATION OF MULTIPLEX PCR AMPLIFICATION FOR
DIAGNOSIS OF THE MOLECULAR DELETIONS IN THE CHINESE
DMD PATIENTS
Y.T. Zeng, M.J. Chen, Z.R. Ren, X.K. Qiu and S.Z. Huan 39
VIRAL VECTORS
THE RECOMBINATION-BASED ASSAY: ISOLATION OF
CHROMOSOME-SPECIFIC SEQUENCESD.M. Kurnit, A.J. Hanzlik, MA. Hauser and G.D. Stewart 42
A LATENT, NONPATHOGENIC HSV-1-DERD7ED VECTORSTABLY EXPRESSED BETA-GALACTOSIDASE IN MOUSE NEURONS
Anthony T. Dobson, Todd P. Margolis, Farhad Sedarati,Jack G. Stevens and Lawrence T. Feldman 43
IN VIVO EXPRESSION OF BETA-GALACTOSIDASE IN BRAIN
BY HSV-MEDIATED GENE TRANSFER
D.J. Fink, L.R. Sternberg, M. Mata, W. Goins and J.C. Glorioso 43
GENE ENGINEERING WITH RETROTRANSPOSON VECTORS
Clague P. Hodgson, R. Frank Cook and Shelia J. Cook 44
PCR-AIDED METHOD FOR PRODUCING PURE POPULATIONS
OF HETERODUPLEX DNA
Ina Babilon-Hesse and Joan T. Hare 44
x
STABILITY OF CHIMERIC GENE SEQUENCES INTRODUCED INTOPOULTRY USING REPLICATION COMPETENT RETROVIRAL
VECTORS
R. Frank Cook, Shelia J. Cook, Renee Z. Fisk and Clague P. Hodgson 45
RETROVIRALTRANSFER OF ARGININOSUCCINATE
SYNTHETASE cDNAINTO HEMATOPOIETIC CELLS
J. Demarquoy, D. Cournoyer, AX. Beaudet and W.E. O'Brien 45
RETROVIRAL VECTOR SYSTEM BASED ON MOUSE MAMMARY
TUMORVIRUS: REGULATION BY MMTV ENCODED NEGATIVE
AND POSITIVE ACTING TRANSCRIPTION FACTORSWalter H. Gunzburg, Gottfried Brem, Volker Erfle and Brian Salmons 46
STABLE EUKARYOTIC CELL LINE EXPRESSING THE RETROVIRAL
INTEGRASE: POTENTIAL IN VIVO INTEGRATION SYSTEMSteven R. Mumm, Paul J. Hippenmeyer and Duane P. Grandgenett 46
TOWARD GENE THERAPY IN HEMOPHILIAA: EXPRESSION OF
FACTOR VDI IN HUMAN PRIMARY SKIN FIBROBLASTS.
H. Van Ormondt, R.C. Hoeben, S.J. Cramer, E. Briet andA.J.VanderEb. 47
DNA SEQUENCING
THE TECHNOLOGY REQUIRED FOR AUTOMATED SEQUENCINGINTHE1990's
Michael W.Hunkapiller 49
CHEMICAL GENETICS - A METHOD FOR GENOME MAPPING
Ian Hodgson, Catherine Arnold, Anne Alves, Donald Ogilvia,Rachel Butler, John Smith, Rashida Anwar and AlexMarkham 49
PRIMER-DIRECTED SEQUENCING OF COSMIDS USING NONAMERS:
INVESTIGATION OFTHE POTENTIAL OF USING A NONAMER
LIBRARY FOR GENOME SEQUENCINGJerry L. Slightom, Leang C. Sieu and David. R. Siemieniak 50
DEVELOPMENT OF A HUMAN POLYMERASE CHAIN REACTION
(PCR) BASED CLONING LD3RARY
K. Wu and A. Deisseroth 50
STRATEGIES FOR SOLID PHASE DNA SEQUENCINGMathias Uhlen and T. Hultman 51
XI
REAL TIME IMAGING OF FLUORESCENT DNA SEQUENCING LADDERSUSING A COOLED CCD (CHARGE COUPLE DEVICE) CAMERA
R. Barker, M. Sanderson, C. Mackay, T. Dunne, A. Creasey and L. DeAngelo 52
AUTOMATED FLUORESCENT DNA SEQUENCING USING A VARIETYOF APPROACHES
Vergine Chakerian, Margaret Galvin, Mariane Hane, Cheryl Heiner,Davis Hershey, Sandy Koepf and Linda Lee 52
FLUORESCENT SEQUENCING STRATEGIES OF PCR*-GENERATED
TEMPLATES
G. Frye, M. Hane, D.M. Iovannisci, L.J. McBride, S.M. Koepf 53
AUTOMATED DIRECT SEQUENCING PROTOCOL FORENZYMATICALLY AMPLIFIED DNA
M. Fujita, S. Usui, M. Kiyama, H. Kambara and K. Murakawa 53
ANALYSIS OF THE POLYMORPHISM OF THE HUMAN
APOIJPOPROTEIN E USING AUTOMATED SOLID PHASE
DNA SEQUENCINGT. Hultman, A.-C. Syvanen, K. Aalto-Setala, H. Soderlund and M. Uhlen 54
DIDEOXY SEQUENCING OF LINEAR DOUBLE-STRANDED DNA BY
CYCLIC REACTIONS USING TAQ POLYMERASEJ.-S. Lee 54
SEQUENCING OF COSMIDS PROXIMAL TO THE MYOTONICDYSTROPHY REGION OF HUMAN CHROMOSOME 19
A. Martin-Gallardo, W.R. McCombie, L. Johnston-Dow, J. Lamerdin,A.V. Carrano and J.C. Venter 55
USE OF THE FAST DATA FINDERTM IN AN AUTOMATIC DNA
SEQUENCE ASSEMBLY SYSTEMCarlos Zamudio 55
PHYSICAL MAPPING
PROGRESS IN MAKING COMPLETE MAPS OF HUMAN CHROMOSOMES
Denan Wang, Jesus Sainz, Raphael Oliva, Yue Wu, Cassandra L. Smithand Charles R. Cantor 57
COINCIDENT SEQUENCE CLONINGA.J. Brookes and D.J. Porteous 57
IN VITRO AMPLIFICATION OF DNA MICRODISSECTED FROM
CHROMOSOMES
D.H. Johnson 58
XII
A HUMAN GENOME LIBRARY IN AN AMPLIFIABLE YEASTARTIFICIAL CHROMOSOME VECTOR
D. Moir, D. Smith, A. Smyth andT. Dorman 58
YEAST ARTIFICIAL CHROMOSOME BASED MAPPING OF
THE HUMAN GENOME
David Schlessinger 59
THE CONSTRUCTION OF APHYSICAL MAP FOR HUMANCHROMOSOME 19
A.V. Carrano, J. Alleman, C. Amemiya, L.K.Ashworth,C. Aslanidis, E.W. Branscomb, J. Combs, C. Chen, M. Christensen,A. Copeland, A. Fertitta, E. Garcia, P.J. de Jong, C. Kwan,J. Lamerdin, H. Morenweiser, A. Olsen, T. Slezak, B. Trask and K. Tynan 60
THE SEARCH FORTHE PRIMARY SEX DETERMINING GENES
M.A. Ferguson-Smith and N.A. Affara 61
SEQUENCE ANALYSIS OF A TSPY-RELATED cDNAJ. Arnemann, S. Thuring, S. Jakubiczka, P. Burfeind and J. Schmidtke 62
MOLECULAR CYTOGENETIC EVIDENCE THAT GENETIC
RECOMBINATION BETWEEN NON-HOMOLOGOUS CHROMOSOMES
CAN INVOLVE THE 1.8 KB KPN 1 REPETITIVE SEQUENCESSau W. Cheung, Terry Featherstone and Li Sun 62
CHROMOSOMAL LOCATION OF AN ANCESTRAL MURINE LI FAMILY
N. Del Grosso, A.V. Furano and E. D'Ambrosio 63
THE HUMAN Y CHROMOSOME ALPHOID SATELLITE DNA IS
ARRANGED IN A SIMPLE (NON-PALINDROMIC) BLOCK
Richard B. Fisher and Chris Tyler-Smith 63
THE HUMAN LEUKOCYTE ANTIGEN CLASS IMULTIGENE FAMILY:
COMPLETE CHARACTERIZATION OF ITS MEMBERS AND CLONING OF
THE 2 MEGABASE CLASS IREGIONIN YEAST ARTIFICIAL
CHROMOSOMES
Daniel E. Geraghty, Ji Pei, Sarah K. Bronson, David D. Chaplin,Beverly H. Roller and Harry T. Orr 64
CHROMOSOME MICROTECHNOLOGY IN HUMAN GENOME
AND GENETIC DISEASE ANALYSIS
Fa-Ten Kao and Jing-Wei Yu 64
XIII
YEASTARTIFICIAL CHROMOSOME CLONES LINKING THE MAJOR
HISTOCOMPATIBILITY COMPLEX CLASS H LOCI DRA AND DOB
H. Kozono, S.K. Bronson and D.D. Chaplin 65
A NEWVECTOR FOR CLONING LARGE EUKARYOTIC DNA
SEGMENTS IN E. COLL
Eduardo D. Leonardo and John M. Sedivy 65
THE ALPHA SATELLITE DNA WITHIN THE CENTROMERES OF
HUMAN CHROMOSOMES 13 AND 21 EXHIBIT IDENTICAL
LONG-RANGE ORGANIZATION THAT IS PARTIALLY SHARED
BY CHROMOSOME 14
A.Nagy,B.VisselandK.H. Choo 66
PREPARATION OF CHROMOSOME 21 PROBES BY PCR
Franklin H. Norris, Robert F. Santerre, Marion E. Hodes
and Sheila P. Little 66
THE GENES FOR THE HIGHLY HOMOLOGOUS CA2+ -BINDING
PROTEINS ONCOMODULIN AND PARVALBUMIN ARE NOT
CLUSTERED IN THE HUMAN GENOME
J.M. Ritzier, R. Sawhney, A.H.M. Geurts van Kessel, A. SchinzeJand M.W. Berchtold 67
BIOLOGICAL ACTIVITY OF CHEMICALLY SYNTHESIZED
OLIGORIBONUCLEOTIDES
S. Scaringe, C. Francklyn, N. Usman and C. Frederick. 67
EFFICIENT ANALYSIS OF YEAST ARTIFICIAL CHROMOSOMES
C.A. Sheehan, S. Mithieux and A.S. Weiss 68
DIRECT BLOTTING ELECTROPHORESIS FOR RAPID ANALYSIS OF
PCR AMPLIFIED (CA)n POLYMORPHISMS
D. Sullivan, J. Stanchfield and N. Dracopoli 68
THE USE OF A FLOW-SORTED CHROMOSOME 21 LIBRARY IN THE
ISOLATION OF BRAIN EXPRESSED SEQUENCESE.C.Tan.A.M. Goate and L. Lim 69
TOWARD A DETAILED PHYSICAL MAP OF AN 840kb REGION OF
THE HUMAN DYSTROPHIN GENE
P. Whittaker, L. Wod, M. Mathrubutham, R. Weeks and R. Anand 69
DETECTION AND ANALYSIS OF POLYMORPHIC (dC-dA)n LOCIUSING FOUR-COLOR FLUORESCENT DNA GEL SCANNER TECHNOLOGY
J. Ziegle, L. Hoff, P.E. Mayrand, M. Kronick and S. Diehl 70
XIV
CANCER RELATED GENES
HEREDITARY CANCER AND TUMOR SUPPRESSOR GENESA.G. Knudson 72
HIGH EFFICDENCY SCREENING OF GENOMIC CHANGES INTUMORS BY DNA FINGERPRINTING WITH SIMPLE REPETITIVEOLIGONUCLEOTIDE PROBESP. Nurnberg, G. Thiel, R. Witkowski and J.T. Epplen 73
OVER-EXPRESSION OF AN EMBRYONIC GENE (NOV) IN AVIANNEPHROBLASTOMAS
B. Perbal, V. Maloisel, C. Martinerie, G. Dambrine, G. Plassiart,J. Crochet and M. Brisac 73
ROLES OF ETS1PROTO-ONCOGENE PRODUCTS IN LYMPHOID
AND NON-LYMPHOID CELLS
Narayan K. Bhat, Jami Willette-Brown, Lisa J. Garrett,Craig Thompson, Tullia Lindsten, Jeffrey M. Leiden, T-H. Tan,Robert J. Fisher and Takis S. Papas 74
INDUCTION OF TISSUE-PLASMINOGEN ACTIVATOR IN HUMAN
CELLS BY IONIZING RADIATION
David A. Boothman, Sam W. Lee and Edward N. Hughes 74
HORMONAL STIMULATION OF mRNA LEVELS FOR THE
ONCOGENES c-jun AND junB IN LEYDIG TUMOR CELLST.-M. Chen and D. Puett 75
CELL CYCLE REGULATION OF C-REL PROTO-ONCOGENE EXPRESSION
W.X. Chen, R. Domiati-Saad, R.B. Dyer, T.R. Jerrells and N.K. Herzog 75
NON-INVASIVE IMAGING OF HISTONE 4 mRNA TRANSCRIPTION
IN MAMMARY TUMOR WITH IN-111 LABELED AMINOHEXYL
OLIGONUCLEOTIDE IN A MOUSE MODEL
M.K. Dewanjee, A.K. Ghafouripour, M. Kapadvanjwala, R.K. Werner,W. Ganz, S. Glenn, R. Gupta, A.N. Serafini, G.N. Sfakianakis and D.M. Lopez 76
MODIFICATION OFTHE T-CELL TRANS-ACTING FACTOR ETS1 BY
THE TUMORINHIBITOR 1-CHLORO-3-TOSYLAMIDO-7-AMINO
-L-2-HEPTANONE (TLCK)Robert J. Fisher, S. Koizumi, A. Kondoh, N.K. Bhat and T.S. Papas 76
THE PURIFIED EPIDERMAL GROWTH FACTOR RECEPTOR IN SIGNAL
TRANSDUCTION STUDIES
Tzipora Goldkorn and John Mendelsohn 77
xv
THYMOSIN BETA-10: AN ONCOFETAL, RETINOID-RESPONSIVE GENE
EXPRESSED IN HUMAN EMBRYONIC TISSUES AND TUMORS
Alan K. Hall, Manuel Fernandes and Joseph J. Seebode 77
REGULATION AND PROCESSING OF THE HUMAN ETSl GENE
C.L. Jorcyk, D.K. Watson, G.J. Mavrothalassitis and T.S. Papas 78
THE USE OF CYTOGENETIC AND DNA ANALYSES IN DIAGNOSIS
OF PRADER-WILLI SYNDROME
Marketta Kahkonen, Hanna-Leena Kokkonen, Kyllikki Haapala,RobertWinquist and Jaakko Leisti 78
STEROID INDUCED, TISSUE SPECIFIC EXPRESSION OF THE c-ski
PROTO-ONCOGENE IN THE RAT UTERUS
S.A. Khan, D.K. Webb, B.C. Moulton and E. Stavnezer 79
HPR-RP EXPRESSION IN MALIGNANT EPITHELIAL TUMORS
F.P. Kuhajda, M.S. Shurbaji and G.R. Pasternack 79
STABLE ONCOGENIC TRANSFORMATION INDUCED BY
MICROCELL-MEDIATED GENE TRANSFER
Y. Lu and D.G. Blair 80
HUMAN CHORIOGONADOTROPIN STIMULATES THE SECRETION
OF AN EXTRACELLULAR MATRIX-MODULATING PROTEIN FROM
LEYDIG TUMOR CELLS
M.H. Majercik, H. Xia and D. Puett 80
REGULATION OF ETS2 TRANSCRDPTION BY INTERACTION OF
ETS-RELATED PROTEINS WITHIN AN ONCOGENE RESPONSIVE UNIT
G.J. Mavrothalassitis and T.S. Papas 81
HUMAN CELL MODELS
M.P. Moyer 81
MODULATION OF P53 GENE EXPRESSION BY INTERFERON
TREATMENT
F.H. Sarkar and J. Squires 82
LOSS OF HETEROZYGOSITY ON CHROMOSOME 11 IN SPORADIC
GASTRINOMAS
Mark P. Sawicki, Y.J.Y. Wan, Carey L. Johnson, James Berenson
and Edward Passaro, Jr 82
MOLECULAR GENETIC ALTERATIONSIN COLORECTAL CARCINOMA:
ISOLATION AND IDENTIFICATION BY SUBTRACTIVE HYDRIDIZATION
C.W. Schweinfest, K.W. Henderson, N. Kondoh, P. Nelson and T.S. Papas 83
XVI
DNA BINDING ACTIVITY OF THE ETS PROTO-ONCOGENE FAMILYPROTEINS
A. Seth, D. Hodge, S.D. Kottaridis, D. Thompson, A. Panayiotakis,D.K. Watson and T.S. Papas 83
CHARACTERIZATION OF HUMAN CHROMOSOMAL BAND 3p21.1IN SEARCH OFTHE GENE RESPONSIBLE FOR SMALL CELL LUNGAND RENAL CELL CARCINOMA
D. Smith, S. Smith, W. Golembieski, K. Merchant, B. Gemmilland H. Drabkin 84
GENERATION OF MICE TOTALLY LACKING THYROXINE BY
TRANSGENIC ABLATION OF THYROCYTES
H. Wallace, C. Ledent, G. Vassart, J.O. Bishop and R. Al-Shawi 84
MEMBERS OF THE ETS GENE FAMILY SHARE A UNIQUE DOMAIND.K. Watson, L.J. Pribyl, F.E. Smyth, R. Ascione and T.S. Papas 85
PHOSPHORYLATION AND DEPHOSPHORYLATION OF ONCOGENEPROTEINS pp40 AND pp60 IN HUMAN BLADDER CARCINOMACELL LINE RT4
W.D. Yang 85
CHOLESTEROL CONTENT OF CANCER CELLS' MEMBRANE AND
ONCOGENE
Z.J. Zheng, S.H. Xu, H. Zheng and J.Y. Wiao 86
DIAGNOSTIC TECHNOLOGY
GENETIC ANALYSIS USING PCR
Henry A. Erlich 88
SINGLE-NUCLEOTIDE GENETIC DISEASE DETECTION USING CLONED
THERMOSTABLE LIGASE
Francis Barany 88
GENETIC ANALYSIS OF CYSTIC FIBROSIS: COMPARISON OF TWO
METHODS FOR DETECTION OF THE F508 MUTATION
J. Poncin, P. Germeau, M. Jacquet, M.P. Merville-Louis, L. Koulisherand J. Gielen 89
DETECTION OF DNA HYBRIDISATION BY SURFACE PLASMON
RESONANCE
T. Schwarz, D. Yeung, A. McDougall, E. Hawkins, F.C. Craven,P.E. Buckle and D. Pollard-Knight 89
XVII
PURIFICATION OF A DNA POLYMERASE FROM THE STRAIN
THERMUS THERMOPHILUS HB8
N. Carballeira, M. Nazabal, A. Suarez, J. Brito and O. Garcia 90
DUPLICATION OF THE NATURAL MUTATION CAUSING
AUTOSOMAL RECESSIVE CHRONIC GRANULOMATOUS DISEASE
DURING IN VITRO DNA AMPLIFICATION BY TAQ POLYMERASEColin Casimir, Ilanan Bu Chanim and Anthony Sogal 90
A HYBRIDIZATION ESTROGENICITY TEST FOR XENOBIOTICS
Shelia J. Cook, R. Frank Cook.Renee Z. Fisk, Susan A. Hines and
Clague P. Hodgson 91
DETECTION OF A SOMATIC MITOCHONDRIAL DELETION MUTATION
IN NORMAL ADULT HUMANS USING PCR
G.A. Cortopassi and N. Arnheim 91
PCR AMPLIFICATION OF INTERMEDIATE SIZE DNA SEQUENCESFROM FORMALIN AND B-5 FIXED BONE MARROW SPECIMENS
D. Crisan and J.C. Mattson 92
VISUALIZING CHEMILUMINESCENT BANDS OF DNA IN AGAROSE
ELECTROPHORESIS GELS
E.M. Davis, M. Casperson and R. Coughlin 92
A COMPARISON OF THE EXPRESSION OF A2B5 AND THY-1 NEURONAL
ANTIGENS IN DIFFERENT CULTURE MEDIA BY IMMUNOGOLD-SILVER
STAINING
C.G. Difiglia, J. Kazimiroff, O.G. Mitchell and R.R. Fieve 93
TWO-TEMPERATURE PCR AND HETERODUPLEX DETECTION:
APPLICATION TO RAPID CYSTIC FIBROSIS (CF) SCREENINGLori A. Dodson and Jeffrey A. Kant 93
NEO-PASA, A METHOD FOR SIMULTANEOUSLY DETECTINGMULTIPLE ALLELES: APPLICATION TO THE DETECTION OF A
NOVEL POLYMORPHISMIN A FACTOR IX ALU REPEAT
CM. Dutton, C.D.K. Bottema and S.S. Sommer 94
TWO TD3RED DNA-BASED DIAGNOSIS OF TRANSTHYRETIN
AMYLOIDOSIS REVEALS TWO NOVEL POINT MUTATIONS
S. Ii, S. Minnerath, K. Ii, P.J. Dyck and S.S. Sommer 94
DETECTION OF CYSTIC FIBROSIS MUTATION F508 BY A
SOLID-PHASE MINISEQUENCINGTESTA. Jalanko, M. Ranki, J. Kere, E. Savilahti, A.-C. Syvanen and H. Soderlund 95
XVIII
PRENATALANALYSIS OF CHROMOSOMAL ABNORMALITIES
USING FLUORESCENT IN SITU HYBRIDIZATION
K.W. Klinger, R. Harvey, W. Dackwoski, B. Leverone, P. Stanislovitis,S.G. Nass, T. Lerner, G. Landes and D. Shook 95
COLORIMETRIC QUANTIFICATION OF PCRAMPLIFIED MATERIAL
Joakim Lundeberg, Johan Wahlberg, Thomas Hultman andMathias Uhlen 96
STUDY OF THE F508 DELETIONIN HUNGARIAN CYSTIC FIBROSIS
FAMILLES
M. Nemeti, E. Louie, Z. Papp and J.P. Johnson 96
ENHANCED CHEMILUMINESCENCE DETECTION OF WESTERN
BLOTTED PROTEINS.
Roger Price, Julie Simmonds, Angelic Devenish, Ian Felix andLinda Proudfoot 97
GENOME SCANNING BY TWO-DIMENSIONAL DNA TYPING
P.E. Slagboom, E. Mullaart, A.G. Uitterlinden and J. Vijg 97
DETECTION OF MINORITY POINTMUTATIONSIN THE N-RAS
GENE BY SOLID PHASE "MENISEQUENCING"A-C. Syvanen, E. Laaksonen, M. Turunen, H. Soderlund and A. Palotie 98
A SEMI-AUTOMATED METHOD FOR COLORIMETRIC PCR
DLAGNOSTICS AND SOLID GENOMIC SEQUENCINGJohan Wahlberg, Joakim Lundeberg, Jan Albert,Thomas Hultman and Mathias Uhlen 98
QUICKPREPTM; a SYSTEM FOR THE RAPID ISOLATION OF
EUKARYOTIC mRNA DIRECTLY FROM CELLS IN THE PRESENCE
OF GUANDINIUM THIOCYANATE
C. Wolin, D. Devitt and P. Franciskovich 99
ACCURACY IN AUTOMATED LASER FLUORESCENT DNA
SEQUENCING: A MAJOR FACTOR BRINGING DIAGNOSTIC
ANALYSIS INTO FOCUS
Maggie A. Bywater-Ekegard 99
ANIMAL MODELS
ANIMAL MODELS OFMUSCULAR DYSTROPHY:
MOLECULARAND PHENOTYPIC CORRELATIONS
Barry J. Cooper, Nena J. Winand andBeth A. Valentine 102
XIX
MAPPING HISTONE 4 mRNA IN PIG BRAIN WITH IN-111
LABELED ANTI-SENSE OLIGONUCLEOTIDE BY IN-SITU HYBRIDIZATION
M.K. Dewanjee, A.K. Ghafouripour, R.K. Werner,W.D. Dietrick, R. Gupta, S. Glenn, A.N. Serafini and G.N. Sfakianakis 102
BETA-MANNOSIDOSIS IN GOATS AND CATTLE: AN ANIMAL
MODEL FOR GENE THERAPY
B. Sopher, C. Traviss, K. Cavanagh, M. Jones, and K. Friderici 103
THE EKER RAT: A MODEL FOR HEREDITARY RENAL CELL
CARCINOMA
C. Walker, K. Funaki, A.G. Knudson, and J. Everitt 103
MOUSE MODELS THROUGH TRANSGENESIS
John D. Gearhart 104
TRANSGENIC MICE MODELS OF DISTURBED
HYPOTHALAMIC-PITUITARY-ADRENAL (HPA) AXIS ACTIVITYPATHOLOGEES
N. Barden, M-C. Pepin, F. Morin, P. Voisine and F. Pothier 104
HIGH SOMATIC MUTATION FREQUENCIES IN A LACZ TRANSGENEINTEGRATED NEARTHE PSEUDOAUTOSOMAL REGION OF THE
X CHROMOSOME
J.A. Gossen, W.J.F. de Leeuw, A.M. Verwest and J. Vijg 105
EFFECT OF EXPERIMENTAL CARNITINE DEPLETION ON
MUSCLE FATTY ACID METABOLISM IN RATS
O.J. Heinonen and J.Takala 105
BOVINE ALPHAsi-CASEIN GENE PROMOTER DIRECTSTHEEXPRESSION OF ACTIVE HUMAN TISSUE-TYPE PLASMINOGENACTIVATOR IN MOUSE MILK
J. Limonta, F.O. Castro, A. Perez, R. Basulto, A. Aguilar,R. Martinez, R. Lleonart, L. Herrera and J. de La Fuente 106
PROGRESS TOWARDS GENE THERAPY
GENE REPLACEMENT THERAPY: RECENT PROGRESS
D. Cournoyer, M. Scarpa, K.A. Moore, F.A. Fletcher,K. Mitani, J.W. Belmont and C.T. Caskey 108
CHIMERAS PREPARED FROM MURINE EMBRYONIC STEM
CELL CLONES CONTAINING A TARGETED MUTATION IN ANADENOSINE DEAMINASE GENE
N. Deane, T. Sato, H. Zhang, J.H. Wilson and T.-S. Chan 109
XX
SECRETION OF A NOVEL GENE PRODUCT THROUGHMICRO-ENCAPSULATED RECOMBINANT CELLSM.M. Romi, Z.P. Lum, A.M. Sun and P.L. Chang 109
PARTICLE BOMBARDMENTMETHOD FOR GENE TRANSFERIN MAMMALIAN SYSTEMS
N.-S. Yang, J. Burkholder, B. Roberts, J. Decker, B. MartinellandD.McCabe 110
GENE TRANSFERWITH HERPES VIRUS-BASED VECTORSP. Johnson, K. Roemer andT. Friedmann 111
CONSTRUCTION OF LIBRARIES OF YEASTARTIFICIAL
CHROMOSOMES (YAC) BY HOMOPOLYMERIC TAILING
S. Caccio, G. Damiani, F. Pilla, P. Delia Franca and V. Sgaramella 112
EXPRESSION OF TRANSDUCED GENES IN EPIDERMAL
KERATINOCYTES INVITRO AND IN VIVO
J.A. Garlick, E.S. Fenjves, A. Katz and L.B. Taichman 112
SYNTHESIS, ANNEALING PROPERTIES, 19F-NMRCHARACTERIZATION AND DETECTION LIMITS OF
TRIFLUOROMETHYL LABELED ANTI-SENSE
OLIGODEOXYRIBONUCLEOTIDES
W.H. Gmeiner and J.W. Lown 113
CORRECTION OF THE ALPHA-1-ANTITRYPSIN piZ GENE DEFECTIN CULTURED HUMAN CELLS BY TARGETED HOMOLOGOUS
RECOMBINATION
EdwardM. Johnson and Andrew J. MacGinnitie 113
CARRD3R DETECTION FOR DUCHENNE'S MUSCULAR DYSTROPHY
BY IN SITU HYBRIDIZATION
J.B. Lawrence, T. Caskey and J.A. McNeil 114
EFFICIENT DELIVERY OF A FLUORESCENT DYE INTO A
TARGET-SPECIFIC HUMAN CELLS BY IMMUNOLDPOSOMES
Q. Liu, R. Peng, M. Wu, J. Zhao, Z. Shen and N. Zhao 114
A SIMPLE AND EFFICIENT LIPOSOME METHOD FOR TRANSFECTION
OF DNA INTO HUMAN LEUKEMIA CELLS
Q.Liu, J. Xie, R.Peng and M.Wu 115
GENE TRANSFER OF ADENOSINE DEAMINASE INTO HUMAN LONG-
TERM CULTURE-INITIATING HEMATOPOIETIC PROGENITORS
K. Mitani, D. Cournoyer, M. Scarpa and C.T. Caskey 115
XXI
DEVELOPMENT OF RECOMBINANT ADENO-ASSOCIATED
VIRUSES THAT HARBOR HUMAN BETA-GLOBIN cDNA/GENE
TOWARDS GENE THERAPY OF HEMOGLOBINOPATHLES
S. Ohi, M.S. Webb, and S. Sitaric 116
QUANTITATIVE ANALYSIS OF TRANSFECTED GENETRANSCRD?TS BY PCR
F. Shalaby and D.A. Shafritz 116
GENE THERAPY FOR ADENOSINE DEAMINASE DEFICIENCY:
PRECLINICAL STUDIES
V.W. van Beusechem, M.P.W. Einerhand and D. Valerio 117
HIGH LEVEL EXPRESSION OF HUMAN FACTORIX IN RAT
CAPILLARY ENDOTHELLAL(RCE) CELLS TRANSDUCED BY
RECOMBINANT RETROVIRUSES: AN APPROACH FOR
SOMATIC CELL GENE THERAPY FOR HEMOPHILIA B
S.N. Yao, J.M. Wilson and K. Kurachi 117
Author Index 119
SubjectIndex 125
XXII