Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22
- National Institutes of Health, Bethesda, MD (United States)
- Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States); and others
Proximal symphalangism, or Cushing symphalangism (MIM 185800), is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints. Conductive deafness and reduced flexibility of the ankles have also been observed in affected individuals. The authors have used polymorphic markers throughout the genome to perform genetic linkage analysis in subsequent generations of the family originally described by Harvey Cushing. They have established linkage for this disorder to markers on chromosome 17 (17q21-q22), with Z{sub max} = 6.98 at {theta} = 0.05 with marker D17S790. 15 refs., 2 figs., 2 tabs.
- OSTI ID:
- 114829
- Journal Information:
- Genomics, Vol. 27, Issue 2; Other Information: PBD: 20 May 1995
- Country of Publication:
- United States
- Language:
- English
Similar Records
Proximal symphalangism: Evidence of linkage to 17q
BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis
Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:114829
BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis
Journal Article
·
Thu Apr 01 00:00:00 EST 1993
· American Journal of Human Genetics; (United States)
·
OSTI ID:114829
+13 more
Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:114829