Literature DB >> 2277381

In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.

G Rumsby1, J W Honour.   

Abstract

A simple, rapid, non-radioactive method for detecting homozygous deletions/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt losing form. This test includes an internal control to monitor the success of amplification.

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Year:  1990        PMID： 2277381      PMCID： PMC1017256          DOI： 10.1136/jmg.27.11.676

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  A PCR artifact: generation of heteroduplexes.

Authors:  C M Nagamine; K Chan; Y F Lau
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

2.  Genotyping errors with the polymerase chain reaction.

Authors:  F K Fujimura; H Northrup; A L Beaudet; W E O'Brien
Journal:  N Engl J Med       Date:  1990-01-04       Impact factor: 91.245

3.  Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Authors:  R K Saiki; S Scharf; F Faloona; K B Mullis; G T Horn; H A Erlich; N Arnheim
Journal:  Science       Date:  1985-12-20       Impact factor: 47.728

4.  An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

Authors:  S C Kogan; M Doherty; J Gitschier
Journal:  N Engl J Med       Date:  1987-10-15       Impact factor: 91.245

5.  Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH.

Authors:  R H Reindollar; J B Lewis; P C White; P M Fernhoff; P G McDonough; J B Whitney
Journal:  Am J Obstet Gynecol       Date:  1988-03       Impact factor: 8.661

6.  Prenatal diagnosis of congenital adrenal hyperplasia.

Authors:  T Strachan; P J Sinnott; I Smeaton; P A Dyer; R Harris
Journal:  Lancet       Date:  1987-11-28       Impact factor: 79.321

7.  Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis.

Authors:  I A Hughes; J Dyas; D Riad-Fahmy; K M Laurence
Journal:  J Med Genet       Date:  1987-06       Impact factor: 6.318
  7 in total
  1 in total

1.  Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.

Authors:  P W Speiser; P C White; J Dupont; D Zhu; A B Mercado; M I New
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132
  1 in total

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