DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia.

X. O. Breakefield, L. Ozelius, M. A. Bothwell, M. V. Chao, F. Axelrod, P. L. Kramer, K. K. Kidd, A. A. Lanahan, D. E. Johnson, A. H. Ross

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Abstract

Alleles for the single human nerve growth factor receptor gene (NGFR) on chromosome 17q can be distinguished by two polymorphic restriction sites for XmnI and one for HincII. The combined information content for haplotypes is quite high, making the NGFR locus an excellent genetic marker. Two of these polymorphisms were used to follow the inheritance of NGFR alleles in families with two or more members affected with familial dysautonomia. This rare disease is inherited in an autosomal recessive mode in the Ashkenazic Jewish population. Affected individuals show a severe depletion of NGF-dependent nerve populations from birth. Linkage analysis excluded a role for NGFR in this disease with odds of greater than 10(6):1 against the dysautonomia gene being within 1 centiMorgan of the mutation. In a previous study the gene for the beta subunit of NGF (NGFB) was also excluded in this disease. A possible role for other genes involved in NGF action or those coding for other developmentally determining neuronal factors is indicated.

Original languageEnglish (US)
Pages (from-to)483-494
Number of pages12
JournalMolecular biology & medicine
Volume3
Issue number6
StatePublished - Dec 1986

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Familial Dysautonomia
Nerve Growth Factor Receptor
DNA
Nerve Growth Factor
Genes
Alleles
Primary Dysautonomias
Rare Diseases
Genetic Markers
Haplotypes
Population
Chromosomes
Parturition
Mutation

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics(clinical)

Cite this

Breakefield, X. O., Ozelius, L., Bothwell, M. A., Chao, M. V., Axelrod, F., Kramer, P. L., ... Ross, A. H. (1986). DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia. Molecular biology & medicine, 3(6), 483-494.

DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia. / Breakefield, X. O.; Ozelius, L.; Bothwell, M. A.; Chao, M. V.; Axelrod, F.; Kramer, P. L.; Kidd, K. K.; Lanahan, A. A.; Johnson, D. E.; Ross, A. H.

In: Molecular biology & medicine, Vol. 3, No. 6, 12.1986, p. 483-494.

Research output: Contribution to journalArticle

Breakefield, XO, Ozelius, L, Bothwell, MA, Chao, MV, Axelrod, F, Kramer, PL, Kidd, KK, Lanahan, AA, Johnson, DE & Ross, AH 1986, 'DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia.', Molecular biology & medicine, vol. 3, no. 6, pp. 483-494.
Breakefield XO, Ozelius L, Bothwell MA, Chao MV, Axelrod F, Kramer PL et al. DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia. Molecular biology & medicine. 1986 Dec;3(6):483-494.
Breakefield, X. O. ; Ozelius, L. ; Bothwell, M. A. ; Chao, M. V. ; Axelrod, F. ; Kramer, P. L. ; Kidd, K. K. ; Lanahan, A. A. ; Johnson, D. E. ; Ross, A. H. / DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia. In: Molecular biology & medicine. 1986 ; Vol. 3, No. 6. pp. 483-494.
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