近端指关节融合症基因（SYM1）定位于人类染色体17q21-q22。

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

作者信息

Polymeropoulos M H, Poush J, Rubenstein J R, Francomano C A

机构信息

National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892, USA.

出版信息

Genomics. 1995 May 20;27(2):225-9. doi: 10.1006/geno.1995.1035.

DOI:10.1006/geno.1995.1035

PMID:7557985

Abstract

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. We have used polymorphic markers throughout the genome to perform genetic linkage analysis in subsequent generations of the family originally described by Harvey Cushing. We have established linkage for this disorder to markers on chromosome 17 (17q21-q22), with Zmax = 6.98 at theta = 0.05 with marker D17S790.

摘要

近端指关节融合症，或库欣指关节融合症（MIM 185800），是一种常染色体显性疾病，其特征为近端指间关节强直。在受影响个体中还观察到传导性耳聋和踝关节灵活性降低。我们使用全基因组多态性标记，对哈维·库欣最初描述的家族的后代进行了遗传连锁分析。我们已将该疾病与17号染色体（17q21 - q22）上的标记建立了连锁关系，标记D17S790在θ = 0.05时Zmax = 6.98。