Polymerase chain reaction detection of the Dde I polymorphism in the factor 9 gene for fragile X linkage analysis

C. S. Dobkin, M. C. Driscoll, C. Ferrando

Research output: Contribution to journalArticle

2 Scopus citations


We have used the polymerase chain reaction (PCR) to analyze the 50 base pair (bp) insertion/deletion polymorphism in the coagulation factor 9 gene. This procedure is particularly applicable for DNA marker studies in fragile X families. The polymorphism, which can also be detected in Dde I digestions, was detected by the amplification of fragments of 298 and 348 bp. The alleles were distinguished directly by agarose gel electrophoresis. PCR detection of this polymorphism is much simpler, more accurate, and quicker than conventional analysis.

Original languageEnglish (US)
Pages (from-to)378-379
Number of pages2
JournalAmerican journal of medical genetics
Issue number2-3
StatePublished - Feb 19 1991



  • DNA polymorphism
  • linkage analysis
  • restriction enzymes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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