多发性骨骺发育不良（EDM2）基因座的遗传定位至1号染色体上包含IX型胶原基因的区域。
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.
作者信息
Briggs M D, Choi H, Warman M L, Loughlin J A, Wordsworth P, Sykes B C, Irven C M, Smith M, Wynne-Davies R, Lipson M H
机构信息
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, Los Angeles, CA 90048.
出版信息
Am J Hum Genet. 1994 Oct;55(4):678-84.
Multiple epiphyseal dysplasia (MED) is a dominantly inherited chondrodysplasia characterized by mild short stature and early-onset osteoarthrosis. Some forms of MED clinically resemble another chondrodysplasia phenotype, the mild form of pseudoachondroplasia (PSACH). On the basis of their clinical similarities as well as similar ultrastructural and biochemical features in cartilage from some patients, it has been proposed that MED and PSACH belong to a single bone-dysplasia family. Recently, both mild and severe PSACH as well as a form of MED have been linked to the same interval on chromosome 19, suggesting that they may be allelic disorders. Linkage studies with the chromosome 19 markers were carried out in a large family with MED and excluded the previously identified interval. Using this family, we have identified an MED locus on the short arm of chromosome 1, in a region containing the gene (COL9A2) that encodes the alpha 2 chain of type IX collagen, a structural component of the cartilage extracellular matrix.
多发性骨骺发育不良（MED）是一种常染色体显性遗传的软骨发育不良，其特征为身材轻度矮小和早发性骨关节炎。某些类型的MED在临床上类似于另一种软骨发育不良表型，即轻度假性软骨发育不全（PSACH）。基于它们在临床上的相似性以及一些患者软骨中相似的超微结构和生化特征，有人提出MED和PSACH属于同一个骨发育异常家族。最近，轻度和重度PSACH以及一种MED都与19号染色体上的同一区间相关联，这表明它们可能是等位基因疾病。我们对一个患有MED的大家庭进行了与19号染色体标记的连锁研究，并排除了先前确定的区间。利用这个家庭，我们在1号染色体短臂上的一个区域确定了一个MED基因座，该区域包含编码IX型胶原蛋白α2链的基因（COL9A2），IX型胶原蛋白是软骨细胞外基质的一种结构成分。
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