C型短指症基因定位于人类12号染色体长臂24区。

Brachydactyly type C gene maps to human chromsome 12q24.

作者信息

Polymeropoulos M H, Ide S E, Magyari T, Francomano C A

机构信息

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

出版信息

Genomics. 1996 Nov 15;38(1):45-50. doi: 10.1006/geno.1996.0590.

DOI:10.1006/geno.1996.0590

PMID:8954778

Abstract

Brachydactyly type C is an autosomal dominant disorder characterized by abnormal segmentation of the index and middle fingers segregating with a high degree of variable expression in members of the same family. We have followed up and studied members of the large kindred segregating with the brachydactyly type C phenotype described by Virgil Haws in 1963, and using genetic linkage analysis, we localized the susceptibility gene to human chromosome 12q24.

摘要

C型短指症是一种常染色体显性疾病，其特征为食指和中指的节段异常，在同一家族成员中具有高度可变的表达。我们对1963年Virgil Haws所描述的C型短指症表型的一个大家族成员进行了随访和研究，并通过遗传连锁分析，将易感基因定位到人类12号染色体q24区域。