ArticleAmerican journal of human genetics1999
Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 69 citations in OpenAlex.
- Genipin rescues developmental and degenerative defects in familial dysautonomia models and accelerates axon regeneration.Science translational medicine · 2024Article
- Familial dysautonomia.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Review
- Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia.Nature communications · 2023Article
- Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent.Journal of clinical and diagnostic research : JCDR · 2017Article
- BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Article
- Current treatments in familial dysautonomia.Expert opinion on pharmacotherapy · 2014Review
- Afferent baroreflex failure in familial dysautonomia.Neurology · 2010Article
- Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.Molecular and cellular biology · 2009Article
- The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies.Neuromolecular medicine · 2008Review
- A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.American journal of human genetics · 2004Article
- Detecting population growth, selection and inherited fertility from haplotypic data in humans.Genetics · 2003Article
- Familial dysautonomia is caused by mutations of the IKAP gene.American journal of human genetics · 2001Article
- Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.American journal of human genetics · 2001Article
- An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.American journal of human genetics · 2000Article
- Familial Dysautonomia: Mechanisms and Models.Genetics and molecular biologyArticle
Corrections and comments
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Authors and funding
18 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 their haplotype.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.