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

Article Abstract:

Findings have enabled researchers to develop accurate genetic testing for familial dysautonomia in both families who exhibit the disease and carriers of the disease. Genetic mapping has provided a narrower location of the defective gene, confirmed by haplotype analysis. This process revealed a prominent haplotype found in 435 of 441 familial dysautonomia chromosomes.

Author: Idelson, Maria, Blumenfeld, Anat, Gusella, James F., Maayan, Channa, Slaugenhaupt, Susan A., Gill, Sandra, Liebert, Christopher B., Temper, Violeta, Lucente, Diane E., MacCormack, Kathy, Monahan, Mary Anne, Mull, James, Leyne, Maire, Mendillo, Marc, Schiripo, Taryn, Mishori, Esther, Breakefield, Xandra, Axelrod, Felicia B.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Dysautonomia, Nervous system diseases

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST (ital) and FGFR (ital) mutations

Article Abstract:

Genetic heterogeneity has been studied in 32 unrelated Saethre-Chotzen syndrome patients and found to come from FGFR (ital) and TWIST (ital) mutations. The syndrome is autosomal dominant and involves craniosynostosis and limb abnormalities. TWIST and FGFRs are parts of one molecular pathway related to the development of limbs and the face/head in humans.

Author: Howard, Timothy D., Korf, Bruce R., Borochowitz, Zvi, Paznekas, WIlliam A., Cunningham, Michael L., Lipson, Mark H., Grix, Art W., Feingold, Murray, Goldberg, Rosalie, Aleck, Kirk, Mulliken, John, Yin, Mingfei, Jabs, Ethyline Wang
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
Israel, Usage, Chromosome mapping, Craniofacial dysostosis

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Subjects list: Research, United States, Genetic aspects, Genetic disorders
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