Etiology of Human Disease at the DNA Level

Etiology of Human Disease at the DNA Level
(1990, NS 80)
Jan Lindsten, Ulf Petterson, Peter Reichard
June 11-14, Björkborn Manor, Karlskoga
Proceedings: Jan Lindsten, Ulf Petterson: Etiology of Human
Disease at the DNA Level (1991), Lippincott-Raven Publishers, Philadelphia, USA

(no longer in print)


Table of Contents
Preface	xi
Mapping of Human Disease Traits
Linkage Genetics in Humans: Origins and Prospects David Botstein	3
The Genetics of Colorectal Cancer at the Somatic and Germ Line Levels Walter F. Bodmer	13
Databases to Serve the Genome Program and the Medical Genetics Community P. L. Pearson, R. Lucier, and C. Brunn	23
The Role of Homeotic and Other Development-Regulating Genes in the Molecular Genetics of Human Malformations Robert Williamson and Debra J. Wolgemuth	35
Molecular Characterization of Genetic Defects
Searching for Dystrophin Gene Deletions in Patients with Atypical Presentations Louis M. Kunkel, Judith R. Snyder, Alan H. Beggs, Frederick M. Boyce, and Chris A. Feener	51
The Proteins of Blood Coagulation and Their Genes Earl W. Davie	61
DNA Markers in Neurogenetic Disorders James F. Gusella	71
Genetic Predisposition to Type I Diabetes Mellitus: The Role of Gene Products of the Major Histocompatibility Complex Hugh O. McDevitt	81
Multigenic Disorders
Diabetes Mellitus: Identification of Susceptibility Genes Graeme I. Bell, Song-hua Wu, Marsha Newman, Stefan S. Fajans, Mitsuko Seino, Susumo Seino, and Nancy J. Cox	93
Genetic Control of Plasma Fibrinogen Levels: An Example of Gene-Environment Interaction in the Etiology of a Multifactorial Disorder Stephen E. Humphries, Fiona R. Green, Angela E. Thomas, Cecily H. Kelleher, and Tom W. Meade	115
The Low-Density Lipoprotein Receptor: A Key for Unlocking a Multifactorial Disease Joseph L. Goldstein and Michael S. Brown	129
Gene Replacement
Gene Transfer and Gene Therapy: Principles, Prospects, and Perspective Richard C. Mulligan	143
Mutating Genes in the Germ Line of Mice Rudolf Jaenisch	191
Gene Replacement Therapy: Human and Animal Model Progress Denis Cournoyer, Maurizio Scarpa, Kateri A. Moore,Frederick A. Fletcher, Grant R. MacGregor, John W. Belmont, and C. Thomas Caskey	199
Altering Genes in Animals and Humans Oliver Smithies	221
Creating Mice with Specific Mutations by Gene Targeting Mario R. Capecchi	231
Diagnosis and Therapy

Diagnosis of Genetic Disease in Preimplantation Embryos Marilyn Monk	245
Marrow Transplantation as a Model System for Correction of Genetic Disease Richard J. O'Reilly	261
Gene Mapping by Fluorescent In Situ Hybridization and Digital Imaging Microscopy David C. Ward, Peter Lichter, Ann Boyle, Antonio Baldini, Joan Menninger, and S. Gwyn Ballard	291
Subject Index	305

The Nobel Foundation