UK!V>:«",1r>-

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