Literature DB >> 2192979

Application of the polymerase chain reaction to the diagnosis of human genetic disease.

J Reiss1, D N Cooper.   

Abstract

In vitro DNA amplification by means of the polymerase chain reaction is currently revolutionizing human molecular genetics. Since its inception in 1985, a wide variety of different methods and their applications in the diagnosis of disease have been described. This review is intended to serve as a brief guide to current and emerging possibilities in this rapidly expanding field.

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Year:  1990        PMID： 2192979     DOI： 10.1007/bf00276316

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  99 in total

1.  A procedure for in vitro amplification of DNA segments that lie outside the boundaries of known sequences.

Authors:  T Triglia; M G Peterson; D J Kemp
Journal:  Nucleic Acids Res       Date:  1988-08-25       Impact factor: 16.971

2.  Distal CCAAT box deletion in the A gamma globin gene of two black adolescents with elevated fetal A gamma globin.

Authors:  J G Gilman; N Mishima; X J Wen; T A Stoming; J Lobel; T H Huisman
Journal:  Nucleic Acids Res       Date:  1988-11-25       Impact factor: 16.971

3.  Construction of biologically functional bacterial plasmids in vitro.

Authors:  S N Cohen; A C Chang; H W Boyer; R B Helling
Journal:  Proc Natl Acad Sci U S A       Date:  1973-11       Impact factor: 11.205

4.  Prenatal diagnosis of alpha-1-antitrypsin deficiency using polymerase chain reaction.

Authors:  C M Abbott; C J McMahon; D B Whitehouse; S Povey
Journal:  Lancet       Date:  1988-04-02       Impact factor: 79.321

5.  Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.

Authors:  E Leitersdorf; H H Hobbs; A M Fourie; M Jacobs; D R van der Westhuyzen; G A Coetzee
Journal:  Proc Natl Acad Sci U S A       Date:  1988-11       Impact factor: 11.205

6.  Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency.

Authors:  S S Fojo; U Beisiegel; U Beil; K Higuchi; M Bojanovski; R E Gregg; H Greten; H B Brewer
Journal:  J Clin Invest       Date:  1988-11       Impact factor: 14.808

7.  Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.

Authors:  B Zhang; H J Edenberg; D W Crabb; R A Harris
Journal:  J Clin Invest       Date:  1989-04       Impact factor: 14.808

8.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

9.  Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences.

Authors:  M Hentemann; J Reiss; M Wagner; D N Cooper
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132

10.  Molecular pathology of haemophilia B.

Authors:  P M Green; D R Bentley; R S Mibashan; I M Nilsson; F Giannelli
Journal:  EMBO J       Date:  1989-04       Impact factor: 11.598
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  9 in total

1.  The polymerase chain reaction: An overview and development of diagnostic PCR protocols at the LCDC.

Authors: 
Journal:  Can J Infect Dis       Date:  1991

2.  DNA amplification fingerprinting: Another diagnostic tool?

Authors:  K Rozee; W Johnson
Journal:  Can J Infect Dis       Date:  1991

Review 3.  Prenatal diagnosis of enzyme defects--an update.

Authors:  B Winchester; E Young
Journal:  Arch Dis Child       Date:  1991-04       Impact factor: 3.791

4.  Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency.

Authors:  T Imai; T Yanase; M R Waterman; E R Simpson; J J Pratt
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

Review 5.  Progress in the DNA diagnosis of hemophilias.

Authors:  M Goossens; N Ghanem
Journal:  Ann Hematol       Date:  1991-04       Impact factor: 3.673

6.  Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.

Authors:  L P Berg; K Wieland; D S Millar; M Schlösser; M Wagner; V V Kakkar; J Reiss; D N Cooper
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

7.  Mixed-linker polymerase chain reaction: a new method for rapid fingerprinting of isolates of the Mycobacterium tuberculosis complex.

Authors:  W H Haas; W R Butler; C L Woodley; J T Crawford
Journal:  J Clin Microbiol       Date:  1993-05       Impact factor: 5.948

Review 8.  Diagnosis of genetic disease using recombinant DNA. Third edition.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1991-09       Impact factor: 4.132

9.  Estimation of the relative sensitivity of qPCR analysis using pooled samples.

Authors:  Ana Muniesa; Chelo Ferreira; Héctor Fuertes; Nabil Halaihel; Ignacio de Blas
Journal:  PLoS One       Date:  2014-04-10       Impact factor: 3.240
  9 in total

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