EP 1274860 A4 20060208 - USE OF GENETIC MARKERS TO DIAGNOSE FAMILIAL DYSAUTONOMIA
Title (en)
USE OF GENETIC MARKERS TO DIAGNOSE FAMILIAL DYSAUTONOMIA
Title (de)
VERWENDUNG VON GENETISCHEN MARKERN ZUR DIAGNOSTIK VON FAMILIÄRER DYSAUTONOMIAE
Title (fr)
UTILISATION DE MARQUEURS GENETIQUES POUR DIAGNOSTIQUER LA DYSAUTONOMIE FAMILIALE
Publication
Application
Priority
US 0006851 W 20000315
Abstract (en)
[origin: WO0168917A1] Familial Dysautonomia (FD), is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems and Ashkenazi Jewish ancestry. The familial dysautonomia disease gene (<i>DYS</i>) has previously been mapped to an 11cM segment of chromosome 9q31-33 flanked by <i>D9s53</i> and <i>D9S105</i>. Using new polymorphic loci, the location of the gene is narrowed to less than 0.5 cM between the markers 43B1GAGT and 157A3. Two markers in this interval, 164D1 and <i>D9S1677</i>, show no recombination with the disease. Haplotype analysis confirmed this candidate region. The identification of these close flanking markers of the familial dysautonomia disease gene allows accurate genetic testing for both familial dysautonomia families and carriers.
IPC 1-7
IPC 8 full level
C12Q 1/68 (2006.01); C12Q 1/6883 (2018.01)
CPC (source: EP)
C12Q 1/6883 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/172 (2013.01)
Citation (search report)
- No further relevant documents disclosed
- See references of WO 0168917A1
Citation (examination)
WO 9324657 A2 19931209 - GEN HOSPITAL CORP [US]
Designated contracting state (EPC)
AT BE CH CY DE DK ES FI FR GB GR IE IT LI LU MC NL PT SE
DOCDB simple family (publication)
WO 0168917 A1 20010920; AU 3749200 A 20010924; CA 2403696 A1 20010920; EP 1274860 A1 20030115; EP 1274860 A4 20060208; IL 151769 A0 20030410
DOCDB simple family (application)
US 0006851 W 20000315; AU 3749200 A 20000315; CA 2403696 A 20000315; EP 00916382 A 20000315; IL 15176900 A 20000315