Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

American Journal of Human Genetics
A BlumenfeldJ F Gusella


Familial dysautonomia (FD) is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems and by Ashkenazi Jewish ancestry. We previously had mapped the defective gene (DYS) to an 11-cM segment of chromosome 9q31-33, flanked by D9S53 and D9S105. By using 11 new polymorphic loci, we now have narrowed the location of DYS to <0.5 cM between the markers 43B1GAGT and 157A3. Two markers in this interval, 164D1 and D9S1677, show no recombination with the disease. Haplotype analysis confirmed this candidate region and revealed a major haplotype shared by 435 of 441 FD chromosomes, indicating a striking founder effect. Three other haplotypes, found on the remaining 6 FD chromosomes, might represent independent mutations. The frequency of the major FD haplotype in the Ashkenazim (5 in 324 control chromosomes) was consistent with the estimated DYS carrier frequency of 1 in 32, and none of the four haplotypes associated with FD was observed on 492 non-FD chromosomes from obligatory carriers. It is now possible to provide accurate genetic testing both for families with FD and for carriers, on the basis of close flanking markers and the capacity to identify >98% of FD chromosomes by thei...Continue Reading


Jul 1, 1978·American Journal of Diseases of Children·K Mehta
Nov 1, 1978·Journal of the Neurological Sciences·J Pearson, B A Pytel
Jan 1, 1977·The Journal of Pediatrics·S L LevineP M Farrell
Nov 1, 1977·Acta paediatrica Scandinavica·H Orbeck, G Oftedal
Feb 1, 1992·Genomics·D J KwiatkowskiJ L Haines
Oct 29, 1992·Nature·J WeissenbachM Lathrop
Jul 5, 1990·The New England Journal of Medicine·B L Triggs-RaineR A Gravel
Feb 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·J P Schwartz, X O Breakefield
Jul 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·X O BreakefieldA Ullrich
Aug 1, 1982·The Journal of Pediatrics·F B Axelrod, J J Abularrage
Jan 1, 1980·The Journal of Pediatrics·M A Klebanoff, J M Neff
Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Jan 1, 1993·Journal of Medical Genetics·A BlumenfeldX O Breakefield
Nov 20, 1995·American Journal of Medical Genetics·C M EngRobert J Desnick


Jan 1, 1995·Journal of Molecular Neuroscience : MN·P M StrasbergI B Warren
Jun 22, 2002·Current Opinion in Genetics & Development·S A Slaugenhaupt, J F Gusella
Dec 6, 2000·Current Opinion in Pediatrics·M A Parisi, R P Kapur
Jan 17, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kristin G MonaghanMolecular Subcommittee of the ACMG Laboratory Quality Assurance Committee
Jan 5, 2002·Genome Génome / Conseil National De Recherches Canada·P C Demacio, P N Ray
Mar 4, 2000·Proceedings of the National Academy of Sciences of the United States of America·S O'ReganF M Meunier
Nov 28, 2012·Autonomic Neuroscience : Basic & Clinical·Lucy Norcliffe-Kaufmann, Horacio Kaufmann
Jul 2, 2003·Reproductive Biomedicine Online·S RechitskyY Verlinsky
Jun 23, 2004·American Journal of Human Genetics·Montgomery Slatkin
Mar 31, 2005·Pediatric Neurology·Erasmo B CasellaAron J Diament
May 25, 2010·Obstetrics and Gynecology Clinics of North America·Susan Klugman, Susan J Gross
Dec 20, 2005·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Jonathan ButlerDavid Webb
Oct 18, 2014·Expert Opinion on Pharmacotherapy·Jose-Alberto PalmaHoracio Kaufmann
Feb 17, 2001·American Journal of Human Genetics·S L AndersonB Y Rubin
Feb 17, 2001·American Journal of Human Genetics·S A SlaugenhauptJ F Gusella
Jun 8, 2002·Paediatric Respiratory Reviews·A Jaffé, A Bush
Jun 19, 2016·Progress in Neurobiology·Lucy Norcliffe-KaufmannHoracio Kaufmann
Aug 26, 2016·Genetics and Molecular Biology·Paula Dietrich, Ioannis Dragatsis
Oct 30, 2003·Critical Reviews in Clinical Laboratory Sciences·Hilary Vallance, Jason Ford
Oct 3, 2017·Continuum : Lifelong Learning in Neurology·Sindhu Ramchandren
Mar 17, 2001·Nature Reviews. Genetics·M S Lindee
Sep 16, 2004·Current Opinion in Neurology·Henry HouldenMary M Reilly
Nov 21, 2001·Nature Reviews. Genetics·H Ostrer
Apr 26, 2017·Proceedings of the National Academy of Sciences of the United States of America·Sarah B OhlenFrances Lefcort
Sep 22, 2020·Journal of Neuropathology and Experimental Neurology·Sarah Jacot-DescombesPatrick R Hof

Related Concepts

Segmental Autonomic Dysfunction
Genome Mapping
Chromosomes, Human, Pair 9
Genetic Equilibrium
Genetic Markers
Genetic Screening Method
Genetic Carriers
Genetic Linkage Analysis

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Lipidomics & Rhinovirus Infection

Lipidomics can be used to examine the lipid species involved with pathogenic conditions, such as viral associated inflammation. Discovered the latest research on Lipidomics & Rhinovirus Infection.

Spatio-Temporal Regulation of DNA Repair

DNA repair is a complex process regulated by several different classes of enzymes, including ligases, endonucleases, and polymerases. This feed focuses on the spatial and temporal regulation that accompanies DNA damage signaling and repair enzymes and processes.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Torsion Dystonia

Torsion dystonia is a movement disorder characterized by loss of control of voluntary movements appearing as sustained muscle contractions and/or abnormal postures. Here is the latest research.

Archaeal RNA Polymerase

Archaeal RNA polymerases are most similar to eukaryotic RNA polymerase II but require the support of only two archaeal general transcription factors, TBP (TATA-box binding protein) and TFB (archaeal homologue of the eukaryotic general transcription factor TFIIB) to initiate basal transcription. Here is the latest research on archaeal RNA polymerases.

Alzheimer's Disease: MS4A

Variants within the membrane-spanning 4-domains subfamily A (MS4A) gene cluster have recently been implicated in Alzheimer's disease in genome-wide association studies. Here is the latest research on Alzheimer's disease and MS4A.

Central Pontine Myelinolysis

Central Pontine Myelinolysis is a neurologic disorder caused most frequently by rapid correction of hyponatremia and is characterized by demyelination that affects the central portion of the base of the pons. Here is the latest research on this disease.