Use of genetic markers to diagnose familial dysautonomia

Details Use of genetic markers to diagnose familial dysautonomia Use of genetic markers to diagnose familial dysautonomia

1992-05-29

1995-02-07

Parr, Margaret

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435912, 935 77, 935 78, C12Q 168, C12P 1934

Patent

active

053875060

ABSTRACT:
The familial dysautonomia gene is identified as located on the long arm of human chromosome 9. As a result of this localization, the presence of the familial dysautonomia gene in a subject of a family with an affected individual is detected by analyzing human chromosome 9 of the subject for a DNA sequence containing the familial dysautonomia gene on the long arm of human chromosome 9 located between D9S59 and D9S127.

REFERENCES:
Kwiatkowski et al Genomics (Jan. 1992) 12:229-240.
Lathrop et al Genomics (1988) 3:361-366.
Proceedings of the 8th International Congress of Human Genetics, Washington, D.C., USA, Oct. 6-11, 1991. AM J Hum Genet 49 (4 Suppl.). 1991. 336. Coden: AJHGAG ISSN: 0002-9297 6--(C) File Biosis Blumenfeld A. et al. "Advances in Linkage Analysis in Familial Dysautonomia."
Blumenfeld A. et al. "Linkage Analysis in Familial Dysautonomia", Bonne-Tamir, B. and A. Adam (Ed.). Genetic Diversity Among Jews: Diseases and Markers of the DNA Level; Goodman's International Conference, Israel, Jun. 1990. XXVIII+460P. Oxford University Press: New York, N.Y., USA; Oxford, England, UK. Illus. M.

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