Prenatal diagnostic testing for familial dysautonomia using linked genetic markers

Carole Oddoux, Elsa Reich, Felicia Axelrod, Anat Blumenfeld, Channa Maayan, Susan Slaugenhaupt, James Gusella, Harry Ostrer

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Familial dysautonomia (FD), a recessively inherited disease, has been mapped to chromosome 9q31. Highly polymorphic dinucleotide repeat markers flanking the genetic locus and at the same genetic location have been identified. We describe the prenatal diagnosis of FD using linkage and linkage disequilibrium analyses with these markers. Twelve families were analysed for informativeness and of these, seven went on to have prenatal testing (a total of eight fetuses tested). All of these fetuses were predicted to be heterozygous unaffected (FD carriers). Seven fetuses have come to term and are normal. In the absence of a recombinant proband, a panel of three proximal and three distal markers is sufficient to provide informative flanking markers and an 87–96 per cent likelihood of a highly predictive test. In an additional family at 1:4 risk for FD, no DNA was available from the propositus. This family was analysed using linkage disequilibrium to the #18 allele of the tightly linked marker D9S58 in conjunction with linkage analysis using data from two unaffected children. Prenatal diagnosis in this family indicated an affected fetus.

Original languageEnglish (US)
Pages (from-to)817-826
Number of pages10
JournalPrenatal Diagnosis
Issue number9
StatePublished - Sep 1995
Externally publishedYes


  • familial dysautonomia
  • linkage analysis
  • linkage disequilibrium
  • prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


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