Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22

Journal Article · Sat May 20 00:00:00 EDT 1995 · Genomics

DOI:https://doi.org/10.1006/geno.1995.1035· OSTI ID:114829

Polymeropoulos, M H; Rubenstein, J R ^[1]; Poush, J ^[2]

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1. National Institutes of Health, Bethesda, MD (United States)
2. 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

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
JOINTS
HEREDITARY DISEASES
HUMAN CHROMOSOME 17
GENETIC MAPPING