进行性骨化性纤维发育不良（FOP）基因定位于17号染色体q21 - 22区域。

Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22.

作者信息

Lucotte G, Bathelier C, Mercier G, Gérard N, Lenoir G, Sémonin O, Fontaine K

机构信息

Center of Molecular Neurogenetics, Faculty of Medicine, Rheims, France.

出版信息

Genet Couns. 2000;11(4):329-34.

PMID:11140409

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a very rare disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of muscles. To identify the chromosomal localization of the FOP gene, we conducted a genomewide linkage analysis using seven affected families. The FOP phenotype is linked to markers located in the 17q21-22 region (LOD score of 3.41 at the recombination fraction theta = 0). Crossover events localize the putative FOP gene within a 12cM interval, bordered proximally by D17S809 and distally by D17S1838. Noggin (NOG) gene, located in 17q22, is an excellent candidate gene for FOP.

摘要

进行性骨化性纤维发育不良（FOP）是一种非常罕见的疾病，其特征为大脚趾先天性畸形以及肌肉进行性异位骨化。为了确定FOP基因的染色体定位，我们使用七个患病家族进行了全基因组连锁分析。FOP表型与位于17q21 - 22区域的标记相关联（在重组率θ = 0时，LOD分数为3.41）。交叉事件将推定的FOP基因定位在一个12cM的区间内，近端以D17S809为界，远端以D17S1838为界。位于17q22的Noggin（NOG）基因是FOP的一个极佳候选基因。