Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1995-06-07
1999-12-07
Myers, Carla J.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 912, 536 235, 536 2431, 536 2433, C12Q 168, C07H 2104, C12P 1934
Patent
active
059981334
ABSTRACT:
Familial dysautonomia (FD), the Riley-Day syndrome, is an autosomal recessive disorder characterized by developmental loss of neurons from the sensory and autonomic nervous system. It is limited to the Ashkenazi Jewish population, where the carrier frequency is 1 in 30. We have mapped the FD gene to the chromosome region 9q31-q33 by linkage with ten DNA markers in twenty-six families. The maximum lod score of 21.1 with no recombinants was achieved with D9S58. This marker also showed strong linkage disequilibrium with FD, with one allele present on 73% of all affected chromosomes compared to 5.4% of control chromosomes (X.sup.2 =3142, 15 d.f. p<0.0001). The other nine markers, distributed within 23 cM proximal or distal to D9S58, also yielded significant linkage to FD. D9S53 and D9S105 represent the closest flanking markers for the disease gene. This localization will permit prenatal diagnosis of FD in affected families.
REFERENCES:
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: Disease and Markers of the DNA Level; Goodman's International Conference Israel, Jun. 1990. XXVIII+460P. Oxford University Press: New York, New York, USA; Oxford, England, UK. Illus. M.
J. Med Genet 30 (1). 1993. 47-52. Coden: Jmdgae ISSN: 0022-2593 2--(C) File Biosis Blumenfeld A et al. Exculusion of Familial Dysautonomia from More than 60 Percent of the Genome.
Kwaitkowski, et al., Construction of a GT Polymorphism Map of Human 9q, Genomics (1992), 12: 229-240.
Wilkie et al., Linkage Map of Human chromosome 9 Microsatellite Polymorphisms, Genomics (Feb. 1992) 12, 607-609.
Trotater et al., Dinucleotide Repeat Polymorphism at the Debrisoquine 4-hydroxylase (CYP2D) Locus, Nucleic Acid Research (1991) vol. 19, No. 10 p. 2802.
Browne et al., Dincleotide Repeat Polymorphism at the DXS538 Locus, Nucleic Acid Research (1991) vol. 19, No. 5 p. 1161.
Tsilfidis et al., An Sstl RFLP Detected by the Probe pKE2.1(D19S116) Localized to Human Chromosome 19q13.3, Nucleic Acid Research (1991) vol. 19, No. 5, p. 1158.
Bowen et al., Aatll Polymorphism in Von Wilebrand factor Gene at Codon 471, Nucleic Acids Research, Vo. 19, No. 11 p. 3159.
Altherr et al., A Highly Polymorphic VNTR Locus on the Long Arm of Chromosome 4, Nucleic Acid Research (1991) vol. 19, No. 5, p. 1168.
M. Lathrop, et al. Mapped set of Genetic Markers for Human Chromosome 9, (1988), Academic Press, Inc., Genomics 3, pp. 361-366.
GDB Home, Amplimer --Name D9S310 Accession I.D. No. GDB 548985 (Apr. 1995).
S. Povey, et al. Report on the Third International Workshop on Chromosome 9, (1994) Ann. Am. Genet, 58:177-199.
GDB Home, Amplimer --Name D9S309, Accession I.D. No. GDB: 548966 (Apr. 1995).
C. Liebert, et al. Identification of Simple Sequence Report 9SSR) Polymorphisms on Human Chromosome 9, Second International Chromosome 9 Workshop, Apr. 17-20, 1993.
S. Slaugenhaupt et al., Physical Mapping of the Familial Dysautonomia Gene Region of Human Chromosome 9, Second International Chromosome 9 Workshop, Apr. 17-20, 1993.
M.A.Pericak-Vance, et al., Report on the Fourth International Workshop on Chromosome 9, Apr. 23-25, 1995.
Weissenbach, J. et al., A Second Generation Linkage Map of the Human Genome, (1992) Nature, 359:794-801.
Blumenfeld Anat
Breakefield Xandra O.
Gusella James F.
Slaugenhaupt Susan
Myers Carla J.
The General Hospital Corporation
LandOfFree
Use of genetic markers to diagnose familial dysautonomia does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Use of genetic markers to diagnose familial dysautonomia, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Use of genetic markers to diagnose familial dysautonomia will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-822311