The American Journal of Human Genetics 1991: Vol 49 Table of Contents

17 Pages·1991·3.6 MB·English

THE AMERICAN JOURNAL OF HUMAN GENETICS
EDITOR
Charles J. Epstein, M.D.
ASSISTANT EDITOR
Shelley F. Diamond
University of California
San Francisco, California
ASSOCIATE EDITORS
David T. Bishop, Ph.D. Beverly S. Emanuel, Ph.D. Lap-Chee Tsui, Ph.D.
Imperial Cancer Research Fund Children’s Hospital of Philadelphia The Hospital for Sick Children
Leeds, England Philadelphia, PA Toronto, Ontario
Michael L. Boehnke, Ph.D. William A. Gahl, M.D., Ph.D. David Valle, M.D.
University of Michigan National Institute of Child Health and Johns Hopkins University School
Ann Arbor, Ml Human Development of Medicine
Bethesda, MD Baltimore, MD
John C. Carey, M.D.
University of Utah Medical Center David H. Ledbetter, Ph.D. John J. Wasmuth, Ph.D.
Salt Lake City, UT Baylor College of Medicine University of California
Houston, TX Irvine, CA
Aravinda Chakravarti, Ph.D.
University of Pittsburgh Jurg Ott, Ph.D. Huntington F. Willard, Ph.D.
Pittsburgh, PA Columbia University Stanford University
New York, NY Stanford, CA
Neil J. Risch, Ph.D.
Yale University School of Medicine
New Haven, CT
Volume 49
1991
Published Monthly for
THE AMERICAN SOCIETY OF HUMAN GENETICS
BY THE UNIVERSITY OF CHICAGO PRESS
THE AMERICAN SOCIETY OF HUMAN GENETICS
BOARD OF DIRECTORS
President Secretary President 1989
Michael M. Kaback, M.D. Kenneth L. Garver, M.D., Ph.D. L. L. Cavalli-Sforza, M.D.
University of California Western Pennsylvania Hospital Stanford University
San Diego, CA Pittsburgh, PA Stanford, CA
President-Elect Treasurer President 1990
Walter E. Nance, M.D., Ph.D. W. Allen Hogge, Ph.D. C. Thomas Caskey, M.D.
Medical College of Virginia University of Maryland Baylor College of Medicine
Richmond, VA Baltimore, MD Houston, TX
Editor
Charles J. Epstein, M.D.
University of California
San Francisco, CA
Directors
Peter H. Byers, M.D. Beverly S. Emanuel, Ph.D. Robert S. Sparkes, M.D.
University of Washington Children’s Hospital of Philadelphia University of California
Seattle, WA Philadelphia, PA Los Angeles, CA
Francis S. Collins, M.D., Ph.D. Laird G. Jackson, M.D. David L. Valle, M.D.
University of Michigan Medical Jefferson Medical College Johns Hopkins University
School Philadelphia, PA School of Medicine
Ann Arbor, MI Baltimore, MD
David R. Cox, M.D. Susan L. Naylor, Ph.D. Ronald G. Worton, Ph.D.
University of California University of Texas Health Sciences Hospital for Sick Children
San Francisco, CA Center Toronto, Canada
San Antonio, TX
© 1991 by The American Society of Human Genetics
Contents of Volume 49
July 1991
Editorial DRB Genotyping Supports Recessive Inheritance
of DR3-associated Susceptibility to
Invited Editorial: The End in Sight for Insulin-dependent Diabetes Mellitus
Huntington Disease? David Jenkins, Jeremy Fletcher, Michelle A. Penny,
Catrin Pritchard, David R. Cox, and Richard M. Myers Catherine H. Mijovic, Karen H. Jacobs,
Arthur R. Bradwell, and Anthony H. Barnett
Exploring the Molecular Basis for Variability
Original Articles
among Patients with Becker Muscular
Dystrophy: Dystrophin Gene and Protein
Defined Physical Limits of the Huntington
Studies
Disease Gene Candidate Region
Alan H. Beggs, Eric P. Hoffman, judith R. Snyder,
G. P. Bates, M. E. MacDonald, S. Baxendale, S. Youngman,
Kiichi Arahata, Linda Specht, Frederic Shapiro,
C. Lin, W. L. Whaley, J. J. Wasmuth, J. F. Gusella,
Corrado Angelini, Hideo Sugita, and Louis M. Kunkel 54
and H. Lehrach
The Gene for Treacher Collins Syndrome Maps Detection of Linkage Disequilibrium between
to the Long Arm of Chromosome 5 the Myotonic Dystrophy Locus and a New
M. J. Dixon, A. P. Read, D. Donnai, A. Colley, J. Dixon, Polymorphic DNA Marker
and R. Williamson 17 Helen G. Harley, J. David Brook, Jo Floyd,
Shelley A. Rundle, Steven Crow, Kate V. Walsh,
Marie-Christine Thibault, Peter S. Harper,
The Gene for Autosomal Dominant and Duncan J. Shaw
Spinocerebellar Ataxia (SCAI) Maps Telomeric
to the HLA Complex and Is Closely Linked to
the D6S89 Locus in Three Large Kindreds Estimation of Morbid Risk and Age at Onset
Huda Y. Zoghbi, Carla Jodice, Lodewijk A. Sandkuijl, with Missing Information
Thomas J. Kwiatkowski, Jr., Alanna E. McCall, L. Adrienne Cupples, Neil Risch, Lindsay A. Farrer,
Sally A. Huntoon, Patrizia Lulli, Maria Spadaro, Michael Litt, and Richard H. Myers
Howard M. Cann, Marina Frontali,
and Luciano Terrenato 23
Complex Segregation Analysis of Primary
Hepatocellular Carcinoma in Chinese Families:
Localization of the Autosomal Dominant
Interaction of Inherited Susceptibility and
HLA-linked Spinocerebellar Ataxia (SCAI)
Hepatitis B Viral Infection
Locus, in Two Kindreds, within an 8-cM
Fu-Min Shen, Ming K. Lee, Hui-Min Gong, Xuan-Qing Cai,
Subregion of Chromosome 6p
and Mary-Claire King 88
Laura P. W. Ranum, Lisa A. Duvick, Stephen S. Rich,
Lawrence J. Schut, Michael Litt, and Harry T. Orr
Evidence That a Single Gene with Gender- and
Complementation and Maternal Effect in Age-dependent Effects Influences Systolic Blood
Insulin-dependent Diabetes Pressure Determination in a Population-based
F. Clerget-Darpoux, M. C. Babron, |. Deschamps, Sample
and J. Hors Louis Pérusse, Patricia P. Moll, and Charles F. Sing
1412 Volume 49 Contents
Detecting High-Resolution Polymorphisms in Frequency and Genetic Background of the
Human Coding Loci by Combining PCR and Position 122 (Val > He) Variant Transthyretin
Single-Strand Conformation Polymorphism Gene in the Black Population
(SSCP) Analysis Daniel R. Jacobson, John D. Reveille, and Joel N. Buxbaum
Shirley E. Poduslo, Michael Dean, Ulricke Kolch, 192
and Stephen J. O’Brien 106
Three Different Frameshift Mutations of the
Detection of Aneuploidy Involving Chromosomes Tyrosinase Gene in Type IA Oculocutaneous
13, 18, or 21 by Fluorescence In Situ Albinism
Hybridization (FISH) to Interphase William S. Oetting, Margaret M. Mentink, C. Gail Summers,
and Metaphase Aminocytes Richard A. Lewis, James G. White, and Richard A. King 199
Wen-Lin Kuo, Hisako Tenjin, Richard Segraves, Dan Pinkel,
Mitchell S. Golbus, and Joe Gray 112
National Institute of Child Health and
Twinning and Mitotic Crossing-over:
Some Possibilities and Their Implications Human Development Workshop
Gilbert B. Cété and Jolanda Gyftodimou
Report
Genetic Affinities of Jewish Populations Protocols to Establish Genotype-Phenotype
Gregory Livshits, Robert R. Sokal, and Eugene Kobyliansky
Correlations in Down Syndrome
131
Charles J. Epstein, Julie R. Korenberg, Goran Annerén,
Stylianos E. Antonarakis, Ségoléne Aymé,
Molecular Characterization of Four Different Eric Courchesne, Lois B. Epstein, Anna Fowler,
Classes of Mutations in the Isovaleryl-CoA Yoram Groner, Jean L. Huret, Thomas L. Kemper,
Dehydrogenase Gene Responsible for Ira T. Lott, Bertram H. Lubin, Ellen Magenis,
Isovaleric Acidemia John M. Opitz, David Patterson, Jean H. Priest,
Jerry Vockley, Bhama Parimoo, and Kay Tanaka 147 Siegfried M. Pueschel, Stanley |. Rapoport,
Pierre-Marie Sinet, Rudolph E. Tanzi,
and Felix de la Cruz
DNA Polymorphisms in the Controlling Region
of the Human Haptoglobin Genes: A Molecular
Explanation for the Haptoglobin 2-1 Modified
Phenotype Obituary
Nobuyo Maeda
David William Hollister, M.D. (1941-91):
5-Aminolevulinate Dehydratase Deficient In Memoriam
Porphyria: Identification of the Molecular David L. Rimoin
Lesions in a Severely Affected Homozygote
Magdalena Plewinska, Stig Thunell, Lars Holmberg,
James G. Wetmur, and Robert J. Desnick 167
Letters to the Editor
Mutation Detection in Phenylketonuria by Using
Becker’s Model and Prenatal Diagnosis in
Chemical Cleavage of Mismatch: Importance of
Proximal Spinal Muscular Atrophy (SMA):
Using Probes from Both Normal and Patient
A Note of Caution
Samples
Bertram Miller and Francoise Clerget-Darpoux
S. M. Forrest, H. H. Dahl, D. W. Howells, |. Dianzani,
and R. G. H. Cotton 175
Cystic Fibrosis Carrier Screening by DNA
Analysis: A Pilot Study of Attitudes among
A Highly Polymorphic Dinucleotide Repeat on
Participants
the Proximal Short Arm of the Human X
Feige Kaplan, Carol Clow, and Charles R. Scriver
Chromosome: Linkage Mapping of the Synapsin
1/A-raf-| Genes
Cordula U. Kirchgessner, James A. Trofatter, Inclusion of Data on Relatives for Estimation
Melanie M. Mahtani, Huntington F. Willard, of Allele Frequencies
and Louis |. DeGennaro Ranajit Chakraborty
Volume 49 Contents
Reply to Chakraborty Syndromes of the Head and Neck. 3d ed.
Michael Boehnke By Robert J. Gorlin, Michael Cohen, Jr.,
and L. Stefan Levin
Reviewed by Bruce Blumberg
Book Review Critique
Albert E. Chudley Mutation and the Environment. Vol. A:
Basic Mechanisms; Vol. B: Metabolism,
Testing Methods, and Chromosomes; Vol. C:
Reply to Chudley Somatic and Heritable Mutation, Adduction,
Mason Barr, Jr. and Epidemiology; Vol. D: Carcinogenesis;
Vol E: Environmental Genotoxicity, Risk,
and Modulation. Edited by Mortimer L. Mendelsohn
Family Cell Lines Available for Diabetes
and Richard J. Albertini
Research
Reviewed by George R. Hoffmann 248
Simon L. Howell and Moira A. Murphy
Announcements
Employment Opportunities; Interlaboratory
Book Reviews
Comparison Program; International Standing
Committee on Cytogenetic Nomenciature;
Diagnostic Dysmorphology. By Jon M. Aase Mutant Cell Repository Catalog;
Reviewed by Elaine Zackai Rockefeller Archive Center
August 1991
Original Articles Hunter Disease (Mucopolysaccharidosis Type I!)
Associated with Unbalanced Inactivation of the
XY Chromosome Nondisjunction in Man Is X Chromosomes in a Karyotypically
Associated with Diminished Recombination in Normal Girl
the Pseudoautosomal Region J. T. R. Clarke, W. L. Greer, P. M. Strasberg, R. D. Pearce,
M. A. Skomorowski, and P. N. Ray 289
Terry J. Hassold, Stephanie L. Sherman, Dorothy Pettay,
David C. Page, and Patricia A. Jacobs 253
Direct Detection of Dystrophin Gene
A Multipoint Linkage Map of the Distal Short Rearrangements by Analysis of Dystrophin
Arm of the Human X Chromosome mRNA in Peripheral Blood Lymphocytes
Carey L. Johnson, Patrick Charmley, Pauline H. Yen, Roland G. Roberts, Teresa F. M. Barby, Elizabeth Manners,
and Larry J. Shapiro 261 Martin Bobrow, and David R. Bentley 298
Fine Structure Mapping of the Nonradioactive Assay for New Microsatellite
Hypoxanthine-Guanine Polymorphisms at the 5’ End of the Dystrophin
Phosphoribosyltransferase (HPRT) Gene Region Gene, and Estimation of intragenic
of the Human X Chromosome (Xq26) Recombination
Janice A. Nicklas, Timothy C. Hunter, J. Patrick O'Neill, Claudine Oudet, Roland Heilig, André Hanauer,
and Richard J. Albertini 267 and Jean-Louis Mandel 311
Neuroanatomy in Fragile X Females: Genomic Structure of the Human Prion Protein
The Posterior Fossa Gene
Allan L. Reiss, Lisa Freund, Jennifer E. Tseng, Carmie Puckett, Patrick Concannon, Christine Casey,
and Paramjit K. Joshi and Leroy Hood 320
1414 Volume 49 Contents
Localization of the Gene Encoding the GABA, Characterization of a COLIAI Splicing Defect in
Receptor 63 Subunit to the Angelman/ a Case of Ehlers-Danios Syndrome Type Vil:
Prader-Willi Region of Human Chromosome [5 Further Evidence of Molecular Homogeneity
J. Wagstaff, J. H. M. Knoll, J. Fleming, E. F. Kirkness, Marina D'Alessio, Francesco Ramirez, Bruce D. Blumberg,
A. Martin-Gallardo, F. Greenberg, J. M. Graham, Jr., Mary K. Wirtz, Validi H. Rao, Maurice Godfrey,
J. Menninger, D. Ward, J. C. Venter, and M. Lalande 330 and David W. Hollister 400
The Apolipoprotein E Polymorphism: A Mutations in the Arylsulfatase A
Comparison of Allele Frequencies and Effects
Pseudodeficiency Allele Causing Metachromatic
in Nine Populations Leukodystrophy
D. Michael Hallman, Eric Boerwinkle, Nilmani Saha,
Volkmar Gieselmann, Arvan L. Fluharty, Ténne Ténnesen,
Christoph Sandholzer, Hans Jirgen Menzel,
and Kurt Von Figura 407
Albert Csazar, and Gerd Utermann
Pyruvate Dehydrogenase Deficiency Due to a
Estimation of Hardy-Weinberg and Pairwise
20-bp Deletion in Exon |! of the Pyruvate
Disequilibrium in the Apo Al-Clll-AlV Gene
Dehydrogenase (PDH) E,a Gene
Cluster
M. B. Haviland, A. M. Kessling, J. Davignon, Kathy Chun, Nevi MacKay, Roumyana Petrova-Benedict,
and Brian H. Robinson 414
and C. F. Sing
Torsion Dystonia Genes in Two Populations Molecular Heterogeneity of Acute Intermittent
Confined to a Small Region on Chromosome Porphyria: Identification of Four Additional
9q32-34 Mutations Resulting in the CRIM-negative
David J. Kwiatkowski, Laurie Ozelius, Patricia L. Kramer, Subtype of the Disease
Scott Perman, Deborah E. Schuback, James F. Gusella, M. H. Delfau, C. Picat, F. De Rooij, G. Voortman,
Stanley Fahn, and Xandra O. Breakefield 366 J. C. Deybach, Y. Nordmann, and B. Grandchamp 421
A Genetic Study of Platelet Adenylate Cyclase
Occurrence of a Tyr393—Asn (Y393N) Mutation
Activity: Evidence for a Single Major Locus
in the Ela Gene of the Branched-Chain a-Keto
Effect in Fluoride-stimulated Activity
Acid Dehydrogenase Complex in Maple Syrup
Eric |. Devor, C. Robert Cloninger, Paula L. Hoffman,
Urine Disease Patients from a Mennonite
and Boris Tabakoff 372
Population
Carolyn R. Fisher, Charles W. Fisher, David T. Chuang,
Analysis in a Large Hyperkalemic Periodic and Rody P. Cox 429
Paralysis Pedigree Supports Tight Linkage to a
Sodium Channel Locus
Louis J. Ptacek, Frank Tyler, James S. Trimmer, Human {-Galactosidase Gene Mutations in
William S. Agnew, and Mark Leppert 378 Gni-Gangliosidosis: A Common Mutation among
Japanese Adult/Chronic Cases
Human Monoamine Oxidase A Gene Kunihiro Yoshida, Akihiro Oshima, Michie Shimmoto,
Determines Levels of Enzyme Activity Yukiko Fukuhara, Hitoshi Sakuraba, Nobuo Yanagisawa,
Gékhan S. Hotamisligil and Xandra O. Breakefield and Yoshiyuki Suzuki 435
A Common Lithuanian Mutation Causing
Compound Heterozygosity in Familial Hypercholesterolemia in Ashkenazi
Nonphenylketonuria Hyperphenylalaninemia: Jews
The Contribution of Mutations for Classical Vardiella Meiner, Daniel Landsberger, Neville Berkman,
Phenylketonuria Ayeleth Reshef, Pesach Segal, Harry C. Seftel,
S. Avigad, S. Kleiman, M. Weinstein, B. E. Cohen, Deneys R. van der Westhuyzen, Muhammad S. Jeenah,
G. Schwartz, S. L. C. Woo, and Y. Shiloh Gerhard A. Coetzee, and Eran Leitersdorf
Volume 49 Contents
Are the Basques a Single and a Unique Book Reviews
Population?
A. Aguirre, A. Vicario, L. |. Mazén, A. Estomba, Contributions to Nephrology. Volume 80:
M. Martinez de Pancorbo, V. Arrieta Picd,
Hereditary Nephritis. Edited by A. Sessa,
F. Perez Elortondo, and C. M. Lostao
M. Meroni, and G. Battini
Reviewed by Martin Bobrow 468
Letters to the Editor Evolutionary Biology of Aging. By Michael R. Rose
Reviewed by Thomas E. Johnson 469
Transmission Probabilities Are Not Correctly
Implemented in the Computer Program Birth Defects Encyclopedia. Edited by M. L. Buyse
POINTER Reviewed by Ernest B. Hook 470
Lennart Iselius and Newton E. Morton
Chromosome 15 Uniparental Disomy Is Not
Frequent in Angelman Syndrome
Eric Engel Human Genetics Education Section
Editorial: Historical Perspectives
Reply to Engel
Carl A. Huether 473
J. H. M. Knoll, R. D. Nicholls, S. Malcolm, and M. Lalande
460
Feature Article: Defining the Gene: An Evolving
Concept
The Use of a New Multiplex PCR Assay
Elof Axel Carlson 475
Significantly Improves the Rapid Detection
of Deletions in the Dystrophin Gene
ASHG/NSGC Activities Related to Education:
Jack C. Tarleton and Charles E. Schwartz
The Doctoral Degree in Genetic Counseling:
Attitudes of Genetic Counselors
Estimation of an Approximate Confidence
Katherine M. Gaupman, Janice G. Edwards,
Interval for FRAXA Location by Using Karen Albiez Brooks, and S. Robert Young
Linkage Data from Many Pedigrees
Graeme Suthers
Innovations in Human Genetics Education:
Medical Student Elective in Clinical Genetics
Diabetic Pregnancy: Is There Intrauterine Joann Bodurtha, J. Edward Spence, and Cathy A. Stevens 494
Selection on ADA Polymorphism?
P. Borgiani, F. Gloria-Bottini, N. Lucarini, M. La Torre, Educational Resources: Report Review: Teaching
M. De Luca, G. Gerlini, and E. Bottini Genetics to Medical Students: A Survey and
Recommendations. Report of a Working
Prenatal Screening for Hemoglobinopathies Party of the Committee on Clinical Genetics of
Peter T. Rowley the Royal College of Physicians
Reviewed by Ernest B. Hook 497
Epstein-Barr Virus Transformation of
Cryopreserved Lymphocytes: Prolonged Educational Resources: Book Review: Human
Experience with Technique Genetics: A Modern Synthesis. By Gordon Edlin
Sheila Pressman and Jerome |. Rotter Reviewed by Theresa Ann Markow 499
1416 Volume 49 Contents
Educational Resources: Book Reviews: Your Erratum 503
Patient’s Anatomy: A Clinical View of Human
Morphology and Student’s and Instructor’s
Manual.
By Stan R. Blecher
Reviewed by Robert P. Erickson
Announcements
Educational Resources: Teaching about the Employment and Fellowship Opportunities;
Human Genome Project Course; Workshop; New Professional Society;
Robert C. Baumiller ASHG Electronic Bulletin Board Termination 504
September 1991
Editorial Down Syndrome Due to De Novo Robertsonian
Translocation t(14q;21q): DNA Polymorphism
Invited Editorial: Gene Mutations in Inherited Analysis Suggests That the Origin of the Extra
Amyloidopathies of the Nervous System 21q Is Maternal
Rudolph E. Tanzi 507 Michael B. Petersen, Patricia A. Adelsberger,
Albert A. Schinzel, Franz Binkert, Georg K. Hinkel,
and Stylianos E. Antonarakis
The Varying Frequencies of Five DNA
Polymorphisms of X-linked Coagulant Factor IX
in Eight Ethnic Groups
Original Articles John B. Graham, Glenna R. Kunkel, Nejat K. Egilmez,
Anders Wallmark, Dana M. Fowlkes, and Susan T. Lord 537
APP,,;, APP.;, and PRIP Gene Mutations Are
Rare in Alzheimer Disease Sequence and Localization of a Partial cDNA
Gerard D. Schellenberg, Leojean Anderson, Sheldon O'dahl, Encoding the Human a3 Chain of Type IV
Ellen M. Wijsman, Adele D. Sadovnick, Melvyn J. Ball, Collagen
Eric B. Larson, Walter A. Kukull, George M. Martin, Karen E. Morrison, Mariko Mariyama, Teresa L. Yang-Feng,
Allen D. Roses, and Thomas D. Bird 511 and Stephen T. Reeders 545
Isolation and Characterization of the CRIPTO
DNA Diagnosis for Hereditary Cerebral
Autosomal Gene and Its X-linked Related
Hemorrhage with Amyloidosis (Dutch Type)
Sequence
E. Bakker, C. van Broeckhoven, J. Haan, E. Voorhoeve,
Rosanna Dono, Nunzia Montuori, Mariano Rocchi,
W. van Hul, E. Levy, |. Lieberburg, M. D. Carman,
Liliana De Ponti-Zilli, Alfredo Ciccodicola,
G. J. B. van Ommen, B. Frangione, and R. A.C. Roos 518
and M. Graziella Persico
Finnish Type of Familial Amyloidosis: GM 1-Gangliosidosis (Genetic f-Galactosidase
Cosegregation of Aspis;~Asn Mutation of Deficiency): Identification of Four Mutations in
Gelsolin with the Disease in Three Large Different Clinical Phenotypes among Japanese
Families Patients
Tiina Hiltunen, Sari Kiuru, Vera Hongell, Tiina Helid, Junji Nishimoto, Eiji Nanba, Koji Inui, Shintaro Okada,
Jorma Palo, and Leena Peltonen 522 and Kunihiko Suzuki 566
Volume 49 Contents 1417
Molecular Characterization of Variant a-Subunit Identification of a Missense Mutation in One
of Electron Transfer Flavoprotein in Three Allele of a Patient with Pompe Disease, and Use
Patients with Glutaric Acidemia Type Il—and of Endonuclease Digestion of PCR-amplified
identification of Glycine Substitution for RNA to Demonstrate Lack of mRNA Expression
Valine-157 in the Sequence of the Precursor, from the Second Allele
Producing an Unstable Mature Protein in a Nan Zhong, Frank Martiniuk, Stephanie Tzall,
Patient and Rochelle Hirschhorn 635
Yasuhiro Indo, Robin Glassberg, Ichiro Yokota,
and Kay Tanaka
Gaucher Disease: Heterologous Expression of
Isolation of Large Numbers of Chromosome Two Alleles Associated with Neuronopathic
3-specific Cosmids Containing Clusters of Phenotypes
Rare Restriction-Endonuclease Sites Marie E. Grace, Anat Berg, Guo-shun He, Lauren Goldberg,
William A. Golembieski, Scott E. Smith, Franco Recchia, Mia Horowitz, and Gregory A. Grabowski 646
Andleeb Judge, Viji Shridhar, Orlando J. Miller,
Harry Drabkin, and David |. Smith
Isolation of a Human DNA Sequence Which
Respiration-deficient Cells Are Caused by a Spans the Fragile X
Single Point Mutation in the Mitochondrial E. J. Kremer, S. Yu, M. Pritchard, R. Nagaraja, D. Heitz,
tRNA-Leu (UUR) Gene in Mitochondrial M. Lynch, E. Baker, V. J. Hyland, R. D. Little, M. Wada,
Myopathy, Encephalopathy, Lactic Acidosis, D. Toniolo, A. Vincent, F. Rousseau, D. Schlessinger,
and Strokelike Episodes (MELAS) G. R. Sutherland, and R. |. Richards 656
Yoko Kobayashi, Mariko Y. Momoi, Kaoru Tominaga,
Hideo Shimoizumi, Kenji Nihei, Masayoshi Yanagisawa,
Yasuo Kagawa, and Shigeo Ohta 590 Marfan Syndrome: No Evidence for
Heterogeneity in Different Populations,
The Neurofibroma in von Recklinghausen and More Precise Mapping of the Gene
Neurofibromatosis Has a Unicellular Origin Katariina Kainulainen, Beat Steinmann, Francis Collins,
Gary R. Skuse, Barbara A. Kosciolek, Harry C. Dietz, Clair A. Francomano, Anne Child,
and Peter T. Rowley Michael W. Kilpatrick, David J. H. Brock, Marion Keston,
Reed E. Pyeritz, and Leena Peltonen 662
Trisomy 21: Association between Reduced
Recombination and Nondisjunction A Unique Mutation in the Vitamin D Receptor
S. L. Sherman, N. Takaesu, S. B. Freeman, M. Grantham, Gene in Three Japanese Patients with Vitamin
C. Phillips, R. D. Blackston, P. A. Jacobs, A. E. Cockwell, D-dependent Rickets Type Il: Utility of
V. Freeman, |. Uchida, M. Mikkelsen, D. M. Kurnit,
Single-Strand Conformation Polymorphism
M. Buraczynska, B. J. B. Keats, and T. J. Hassold 608
Analysis for Heterozygous Carrier Detection
Takahiko Saijo, Michinori Ito, Eiji Takeda,
Genetic Mapping of the f! GABA Receptor A. H. M. Mahbubul Hug, Etsuo Naito, Ichiro Yokota,
Gene to Human Chromosome 4, Using a Teruki Sone, J. Wesley Pike, and Yasuhiro Kuroda 668
Tetranucleotide Repeat Polymorphism
Michael Dean, Susan Lucas-Derse, Annabel Bolos,
Complex Segregation Analysis of Nonsyndromic
Stephen J. O'Brien, Ewen F. Kirkness, Claire M. Fraser,
and David Goldman 621 Cleft Lip and Palate
Jacqueline T. Hecht, Ping Yang, Virginia V. Michels,
and Kenneth H. Buetow 674
Interaction between T-Cell Receptor Beta Chain
and Immunoglobulin Heavy Chain Region Genes
in Susceptibility to Insulin-dependent Diabetes Cleft Lip and Palate: No Evidence of Linkage to
Mellitus Transforming Growth Factor Alpha
L. Leigh Field, David K. Stephure, and Robert G. McArthur Jacqueline T. Hecht, Yaping Wang, Susan H. Blanton,
627 Virginia A. Michels, and Stephen P. Daiger 682
1418 Volume 49 Contents
ASHG Human Genome Committee Book Reviews
Report
Advances in Human Genetics. Vol 19. Edited by
Harry Harris and Kurt Hirschhorn
The Human Genome Project: Implications for
Reviewed by Leonard Pinsky 694
Human Genetics 687
The Encyclopedia of Genetic Disorders
and Birth Defects. By James Wynbrandt
and Mark D. Ludman
Reviewed by Cynthia Curry
Letters to the Editor
Erratum
X-chromosomal Gene in Leber Hereditary Optic
Neuroretinopathy
Jia-De Chen and Michael J. Denton 692 Announcements
Employment Opportunities; Call for Papers;
Reply to Chen and Denton Families Wanted (hereditary hemorrhagic
Johanna Vilkki, Jurg Ott, and Marja-Liisa Savontaus telangiectasia); Conferences and Congress 697
October 1991
Editorial A tRNA” Mutation in the Mitochondrial DNA
Is the Causal Genetic Lesion Underlying
The Forensic Applications of Molecular Myoclonic Epilepsy and Ragged-Red Fiber
Genetics—The Journal’s Responsibilities (MERRF) Syndrome
Charles J. Epstein, Editor A. S. Noer, H. Sudoyo, P. Lertrit, D. Thyagarajan,
P. Utthanaphol, R. Kapsa, E. Byrne, and S. Marzuki 715
Complex Patterns of Linkage Disequilibrium
Original Articles in the Huntington Disease Region
Marcy E. MacDonald, Carol Lin, Lakshmi Srinidhi,
Identification of Novel Rhodopsin Mutations Gillian Bates, Michael Altherr, W. Lance Whaley,
Associated with Retinitis Pigmentosa by Hans Lehrach, John Wasmuth, and James F. Gusella 723
GC-clamped Denaturing Gradient Gel
Electrophoresis Covariate-dependent Age-at-Onset Distributions
Val C. Sheffield, Gerald A. Fishman, John S. Beck, for Huntington Disease
Alan E. Kimura, and Edwin M. Stone Michael Krawczak, Barbara Bockel, Lodewijk Sandkuijl,
Ulrike Thies, lan Fenton, and Peter S. Harper 735
Detection of Deletions and Cryptic
Translocations in Miller-Dieker Syndrome by DNA Typing and Genetic Mapping with
In Situ Hybridization Trimeric and Tetrameric Tandem Repeats
Akira Kuwano, Susan A. Ledbetter, William B. Dobyns, Al Edwards, Andrew Civitello, Holly A. Hammond,
Beverly S. Emanuel, and David H. Ledbetter 707 and C. Thomas Caskey