Access the full text.
Sign up today, get DeepDyve free for 14 days.
F. Sanger, A. Coulson, B. Barrell, A. Smith, B. Roe (1980)
Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing.Journal of molecular biology, 143 2
J. Gusella, N. Wexler, P. Conneally, S. Naylor, M. Anderson, R. Tanzi, P. Watkins, K. Ottina, M. Wallace, A. Sakaguchi, Anne Young, I. Shoulson, E. Bonilla, Joseph Martin (1983)
A polymorphic DNA marker genetically linked to Huntington's diseaseNature, 306
J. Feder, L. Yen, E. Wijsman, L. Wang, L. Wilkins, J. Schroder, N. Spurr, H. Cann, M. Blumenberg, L. Cavalli-Sforza (1985)
A systematic approach for detecting high-frequency restriction fragment length polymorphisms using large genomic probes.American journal of human genetics, 37 4
L. Lie-injo, A. Herrera, Y. Kan (1981)
Two types of triplicated a -globin loci in humansNucleic Acids Research, 9
Beaudet Al (1985)
Bibliography of cloned human and other selected DNAs.American journal of human genetics, 36 1
E. Southern (1975)
Detection of specific sequences among DNA fragments separated by gel electrophoresis.Journal of molecular biology, 98 3
E. Bakker, N. Goor, K. Wrogemann, L. Kunkel, W. Fenton, D. Majoor-Krakauer, M. Jahoda, G. Ommen, M. Hofker, J. Mandel, K. Davies, H. Willard, L. Sandkuyl, A. Essen, E. Sachs, P. Pearson (1985)
PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPsThe Lancet, 325
D. Rees, C. Rizza, G. Brownlee (1985)
Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX geneNature, 316
Stuart Orkin, Peter Little, H. Kazazian, Corinne Boehm (1982)
Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis.The New England journal of medicine, 307 1
T. Pihlajaniemi, L. Dickson, F. Pope, V. Korhonen, A. Nicholls, D. Prockop, J. Myers (1984)
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.The Journal of biological chemistry, 259 21
A. Monaco, C. Bertelson, W. Middlesworth, C. Colletti, J. Aldridge, K. Fischbeck, R. Bartlett, M. Pericak-Vance, A. Roses, L. Kunkel (1985)
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segmentNature, 316
J. Gitschier, W. Wood, T. Goralka, K. Wion, E. Chen, D. Eaton, G. Vehar, D. Capon, R. Lawn (1984)
Characterization of the human factor VIII geneNature, 312
A. Lidsky, F. Ledley, A. Dilella, S. Kwok, S. Daiger, K. Robson, S. Woo (1985)
Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.American journal of human genetics, 37 4
C. Tabin, S. Bradley, Cori Bargmann, R. Weinberg, A. Papageorge, E. Scolnick, R. Dhar, D. Lowy, E. Chang (1982)
Mechanism of activation of a human oncogeneNature, 300
V. Ingram (1957)
Gene Mutations in Human Hæmoglobin: the Chemical Difference Between Normal and Sickle Cell HæmoglobinNature, 180
C. Smith (1963)
Testing for heterogeneity of recombination fraction values in Human GeneticsAnnals of Human Genetics, 27
J. Wilson, P. Frossard, R. Nussbaum, C. Caskey, W. Kelley (1983)
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.The Journal of clinical investigation, 72 3
S. Orkin (1984)
Prenatal diagnosis of hemoglobin disorders by DNA analysis.Blood, 63 2
S. Kwok, S. Chan, A. Rubenstein, R. Poucher, D. Steiner (1981)
Loss of a restriction endonuclease cleavage site in the gene of a structurally abnormal human insulin.Biochemical and biophysical research communications, 98 3
F. Crick, L. Barnett, S. Brenner, R. Watts-tobin (1961)
General Nature of the Genetic Code for ProteinsNature, 192
K. Cheah (1985)
Collagen genes and inherited connective tissue disease.The Biochemical journal, 229 2
S. Antonarakis, S. Kittur, C. Metaxotou, A. Patel, P. Watkins, H. Kazazian (1985)
800 ANAIXSIS OF DNA HAPLOTYPES SUGGESTS A GENETIC PREDISPOSITION TO TRISOMY 21 ASSOCIATED WITH DNA SEQUENCES ON CHROMOSOME 21Pediatric Research, 19
M. Frydman, Batsheva, BONNt-TAMIRt, Lindsay FARRERt, P. Michael, CONNEALLYt, Abraham Magazanik, Sara ASHBELt, ZIPoRA GOLDWITCHt (1985)
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.Proceedings of the National Academy of Sciences of the United States of America, 82 6
Stephen Mount (1982)
A catalogue of splice junction sequences.Nucleic acids research, 10 2
A. Studencki, R. Wallace (1984)
Allele-Specific Hybridization Using Oligonucleotide Probes of Very High Specific Activity: Discrimination of the Human βA- and βS-Globin Genes, 3
SE Folstein, John Phillips, John Phillips, D. Meyers, Gary Chase, Margaret Abbott, Franz Ml, P. Waber, H. Kazazian, PM Conneally, W. Hobbs (1985)
Huntington's disease: two families with differing clinical features show linkage to the G8 probe.Science, 229 4715
S. Woo, A. Lidsky, F. Güttler, T. Chandra, K. Robson (1983)
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuriaNature, 306
P. Tsipouras, J. Myers, F. Ramirez, D. Prockop (1983)
Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.The Journal of clinical investigation, 72 4
Corinne Boehm, S. Antonarakis, J. Phillips, Gail Stetten, H. Kazazian (1983)
Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia.The New England journal of medicine, 308 18
H. Kazazian, S. Antonarakis, C. Wong, S. Trusko, G. Stetten, Mark Oliver, Michael Potter, J. Gusella, P. Watkins (1985)
Ring Chromosome 21: Characterization of DNA Sequences at Sites of Breakage and ReunionAnnals of the New York Academy of Sciences, 450
P. Seeburg, J. Shine, J. Martial, J. Baxter, H. Goodman (1977)
Nucleotide sequence and amplification in bacteria of structural gene for rat growth hormoneNature, 270
J. Gitschier, W. Wood, E. Tuddenham, M. Shuman, T. Goralka, E. Chen, R. Lawn (1985)
Detection and sequence of mutations in the factor VIII gene of haemophiliacsNature, 315
S. Antonarakis, P. Waber, S. Kittur, Achyut Patel, H. Kazazian, Marialuisa Mellis, R. Counts, G. Stamatoyannopoulos, E. Bowie, D. Fass, D. Pittman, J. Wozney, J. Toole (1985)
Hemophilia A. Detection of molecular defects and of carriers by DNA analysis.The New England journal of medicine, 313 14
J. Sambrook, E. Fritsch, T. Maniatis (2001)
Molecular Cloning: A Laboratory Manual
J. Watson, F. Crick (1953)
The structure of DNA.Cold Spring Harbor symposia on quantitative biology, 18
B. Conner, Anton REYESt, Christophe MORINt, Keiichi ITAKURAt, R. Teplitz, R. WALLACEt (1983)
Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.Proceedings of the National Academy of Sciences of the United States of America, 80 1
M. Goossens, A. Dozy, S. Embury, Z. Zachariades, M. Hadjiminas, G. Stamatoyannopoulos, Y. Kan (1980)
Triplicated alpha-globin loci in humans.Proceedings of the National Academy of Sciences of the United States of America, 77 1
E. Taparowsky, Y. Suard, O. Fasano, K. Shimizu, M. Goldfarb, M. Wigler (1982)
Activation of the T24 bladder carcinoma transforming gene is linked to a single amino acid changeNature, 300
R. Rozen, J. Fox, W. Fenton, A. Horwich, L. Rosenberg (1985)
Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locusNature, 313
D. Prockop, K. Kivirikko (1984)
Heritable diseases of collagen.The New England journal of medicine, 311 6
W. Knowler, D. Pettitt, B. Vasquez (2013)
Polymorphism in the 5 ' Flanking Region of the Human Insulin Gene Relationships with Noninsulin-dependent Diabetes Mellitus , Glucose and Insulin Concentrations , and Diabetes Treatment in the Pima Indians
N. Morton (1955)
Sequential tests for the detection of linkage.American journal of human genetics, 7 3
T. Su, H. Bock, A. Beaudet, William 'brien (1982)
Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts.The Journal of clinical investigation, 70 6
J. Messing, R. Crea, P. Seeburg (1981)
A system for shotgun DNA sequencing.Nucleic acids research, 9 2
M. Lehrman, J. Goldstein, Michael Brown, D. Russell, W. Schneider (1985)
Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domainCell, 41
J. Watson, F. Crick (1953)
Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic AcidNature, 171
N. Proudfoot (1984)
Gene expression: The end of the message and beyondNature, 307
D. Cohn, P. Byers, B. Steinmann, R. Gelinas (1986)
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.Proceedings of the National Academy of Sciences of the United States of America, 83 16
E. Reddy, R. Reynolds, E. Santos, M. Barbacid (1982)
A point mutation is responsible for the acquisition of transforming properties by the T24 human bladder carcinoma oncogeneNature, 300
F. Giannelli, F. Giannelli, K. Choo, D. Rees, Y. Boyd, C. Rizza, G. Brownlee (1983)
Gene deletions in patients with haemophilia B and anti-factor IX antibodiesNature, 303
J. Tooze, D. Kurtz, J. Watson (1983)
Recombinant DNA: A short course
C. Sing, J. Davignon (1985)
Role of the apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation.American journal of human genetics, 37 2
Recombinant DNA technology has applications in the analysis of an ever increasing number of genetic disorders. This review discusses (a) the basic genetic principles underlying recombinant DNA techniques, (b) the general approach to analyzing genetic disorders using these methods, and finally (c) the practical applications of DNA analysis in genetic disease. INTRODUCTION The last 30 years have witnessed a revolution in our understanding of the hereditary material and mutations causing genetic diseases. Recombinant DNA technology has come into its own, with applications in virtually every subspecialty of medicine. Elucidation of single-gene disorders is proceeding at an exponential pace; over 200 human genes have been cloned (5), the chromosomal map location is known for more than 140 of them (33a). Over 100 are known to be associated with one or more disease states (42). As our knowledge of the human gene map grows, an increasing number of disease loci are being pinpointed in the absence of knowledge of the underlying genetic defect. It is hoped that by dissecting these genetic loci we will learn more about the underlying biochemical bases of the mutations. The goals of this review are three: (a) to provide an overview of genetic principles necessary
Annual Review of Medicine – Annual Reviews
Published: Feb 1, 1986
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.