Proximal symphalangism: Evidence of linkage to 17q
- National Center for Human Genome Research, Bethesda, MD (United States); and others
Proximal symphalangism (PS; OMIM 185800) is an autosomal dominant disorder which is characterized by ankylosis of the proximal interphalangeal joints and an increased incidence of conductive deafness in some families. A large American kindred with PS was originally described by Cushing in 1916, segregating for this disorder in many generations. Several follow-up studies have confirmed the disorder in members of this kindred and have also suggested that conductive deafness is a pleiotropic effect of the mutant gene in this family. In an effort to localize the gene, we have studied 55 members of Cushing`s kindred with 85 microsatellite repeat polymorphisms spanning the human genome. Genetic linkage analysis with data for marker D17S809 gave significant evidence for linkage with Zmax=3.4 at recombination fraction {theta}=0.05.
- OSTI ID:
- 134015
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0750
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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