Prenatal diagnostic testing for familial dysautonomia using linked genetic markers

C. Oddoux, E. Reich, F. Axelrod, A. Blumenfeld, C. Maayan, S. Slaugenhaupt, J. Gusella, Harry Ostrer

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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
Volume15
Issue number9
DOIs
StatePublished - 1995
Externally publishedYes

Fingerprint

Familial Dysautonomia
Genetic Markers
Fetus
Linkage Disequilibrium
Prenatal Diagnosis
Dinucleotide Repeats
Genetic Loci
Chromosomes
Alleles
DNA

Keywords

  • Familial dysautonomia
  • Linkage analysis
  • Linkage disequilibrium
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

Cite this

Oddoux, C., Reich, E., Axelrod, F., Blumenfeld, A., Maayan, C., Slaugenhaupt, S., ... Ostrer, H. (1995). Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. Prenatal Diagnosis, 15(9), 817-826. https://doi.org/10.1002/pd.1970150905

Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. / Oddoux, C.; Reich, E.; Axelrod, F.; Blumenfeld, A.; Maayan, C.; Slaugenhaupt, S.; Gusella, J.; Ostrer, Harry.

In: Prenatal Diagnosis, Vol. 15, No. 9, 1995, p. 817-826.

Research output: Contribution to journalArticle

Oddoux, C, Reich, E, Axelrod, F, Blumenfeld, A, Maayan, C, Slaugenhaupt, S, Gusella, J & Ostrer, H 1995, 'Prenatal diagnostic testing for familial dysautonomia using linked genetic markers', Prenatal Diagnosis, vol. 15, no. 9, pp. 817-826. https://doi.org/10.1002/pd.1970150905
Oddoux C, Reich E, Axelrod F, Blumenfeld A, Maayan C, Slaugenhaupt S et al. Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. Prenatal Diagnosis. 1995;15(9):817-826. https://doi.org/10.1002/pd.1970150905
Oddoux, C. ; Reich, E. ; Axelrod, F. ; Blumenfeld, A. ; Maayan, C. ; Slaugenhaupt, S. ; Gusella, J. ; Ostrer, Harry. / Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. In: Prenatal Diagnosis. 1995 ; Vol. 15, No. 9. pp. 817-826.
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