Human Molecular Genetics

✍ Scribed by Kenneth W. Adolph (Eds.)

• Publisher: Elsevier, Academic Press
• Year: 1996
• Tongue: English
• Leaves: 521
• Series: Methods in Molecular Genetics 8
• Category: Library

✦ Synopsis

Human Molecular Genetics is a practical guide to the applications of molecular biology and genetics techniques to human cells. A wide range of experimental procedures for investigating human genes and genomes are presented. * * Mutation Detection in Human Genes - chemical mismatch cleavage, DNA mini-sequencing, SSCP method, RT-PCR, electrophoretic mobility shift assay (EMSA), protein truncation test, chromosome deletion analysis. Gene Mapping, Cloning, Sequencing - gene linkage determination, large-capacity cloning system, cDNA isolation, differential display method, primer-based DNA sequencing. Transcription: Promoters, Transcription Factors, mRNA, - promotor mutation analysis, transcription factor identification, mRNA-protein interaction characterization. RNA Editing, Ribozymes, Antisense RNA-mammalian RNA editing assays, ribozymes as genetic tools, antisense RNA technology. Genome Recombination, Amplification - recombination assays for mammalian cells, gene amplification measurement. Receptors, Signal Transduction - intra-cellular receptor characterization, analysis of signal transduction genes. The Mouse as a Model System for Human Molecular Genetics - mouse genome methods (mouse crosses, somatic cell hybrids, YACs), mouse model for cardiovascular disease.

✦ Table of Contents

Content:
Contributors to volume 8
Pages ix-xiii

Preface
Page xv
Kenneth W. Adolph

Methods in molecular genetics
Page xvii

[1]Chemical mismatch cleavage Original Research Article
Pages 3-13
James A. Hejna, Markus Grompe, Robb E. Moses

[2]Detection of point mutations by solid-phase minisequencing Original Research Article
Pages 14-25
Ann-Christine Syvänen, Leena Peltonen

[3]Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids Original Research Article
Pages 26-39
Susanna Bunge, Sigrid Fuchs, Andreas Gal

[4]Identification and functional analysis of mutations in the human PAX6 gene Original Research Article
Pages 40-69
Richard Maas, Jonathan A. Epstein, Tom Glaser

[5]Mutation detection in the cystic fibrosis transmembrane conductance regulator gene Original Research Article
Pages 70-96
Ann Harris, Sue Shackleton, Jeremy Hull

[6]Protein truncation test for presymptomatic diagnosis of familial adenomatous polyposis Original Research Article
Pages 97-112
Rob B. van der Luijt, P. Meera Khan

[7]Localization of tumor suppressor genes by loss of heterozygosity and homozygous deletion analysis Original Research Article
Pages 113-136
Margaret A. Knowles

[8]Mapping human disease genes by linkage analysis Original Research Article
Pages 139-166
E. Chung, R.M. Gardiner

[9]Engineering 100- to 300-kb DNA as persisting extrachromosomal elements in human cells using human artificial episomal chromosome system Original Research Article
Pages 167-188
Tian-Qiang Sun, Jean-Michel H. Vos

[10]Isolating and mapping coding regions from complex genomes: Direct cDNA selection Original Research Article
Pages 189-206
Carol A. Wise, Michael Lovett, Ethylin Wang Jabs

[11]Isolation of candidate genes for inherited diseases: Application to X-linked retinal degenerations Original Research Article
Pages 207-228
Denise Yan, Ricardo Fujita, Anand Swaroop

[12]Fluorescent differential display method for high-speed scanning of tissue- or cell-specific transcripts Original Research Article
Pages 229-245
Takashi Ito, Yoshiyuki Sakaki

[13]³²P- and fluorescence-labeled DNA sequencing using primers selected from nonamer library Original Research Article
Pages 246-257,I
Jeffrey H. Bock, Jerry L. Slightom

[14]Analysis of promoter mutations causing human genetic disease Original Research Article
Pages 261-277
Lutz-Peter Berg, Deborah A. Scopes, Vijay V. Kakkar, David N. Cooper

[15]Identification of transcription factors and their target genes Original Research Article
Pages 278-297
Heike L. Pahl, Patrick A. Baeuerle

[16]Identification and characterization of transcription factors from mammalian cells Original Research Article
Pages 298-320
Guang L. Wang, Gregg L. Semenza

[17]In vitro assays for characterization of RNA-protein complexes involved in pro-opiomelanocortin mRNA translation Original Research Article
Pages 321-332
Stephanie D. Flagg, Corinne M. Spencer, James H. Eberwine

[18]Mammalian RNA Editing Original Research Article
Pages 335-347
Lawrence Chan, BaBie Teng

[19]Ribozymes as therapeutic agents and tools for gene analysis Original Research Article
Pages 348-361
John J. Rossi, Daniela Castanotto, Edovard Bertrand

[20]In vivo analysis of signaling elements via targeted, inducible antisense RNA Original Research Article
Pages 362-372
Patricia A. Galvin-Parton, Hsien-yu Wang, Jiang Fan Chen, Craig C. Malbon, Christopher M. Moxham

[21]Extrachromosomal substrates to study immunoglobulin heavy chain class switch recombination in mammalian B cells Original Research Article
Pages 375-387
Ming-Jie Li, Nancy Maizels, Helios Leung

[22]Gene amplification as marker for studying genomic instability Original Research Article
Pages 388-401
T.D. Tlsty

[23]Intracellular receptor characterization and ligand screening by transactivation and hormone-binding assays Original Research Article
Pages 405-420
Elizabeth A. Allegretto, Richard A. Heyman

[24]Control of blood cell differentiation and mechanisms of neoplasia Original Research Article
Pages 421-435
Arthur J. Sytkowski

[25]Selected methods related to the mouse as a model system Original Research Article
Pages 439-469
Evie Melanitou, Marie-Christine Simmler, Edith Heard, Claire Rougeulle, Philip Avner

[26]Molecular analysis of cardiac muscle diseases based on mouse genetics Original Research Article
Pages 470-487
Steven W. Kubalak, John J. Hunter, Kenneth R. Chien, Pieter A. Doevendans, Howard A. Rockman, Nobuaki Tanaka, John Ross Jr.

Index
Pages 489-500