Analysis of myotonic dystrophy gene using a cDNA for human prolidase.

脯氨酸酶（肽酶D）是一种普遍存在的酶，它分裂在羧基末端有脯氨酸残基的脱肽。通过凝胶电泳研究了脯氨酸酶的多态性，并证实了多态性与肌强直营养不良性状之间的紧密联系。一个cDNA探针的增殖酶被期望是有用的遗传分析肌强直性营养不良症。从人肝脏和胎盘cDNA文库中分离cDNA克隆，推导出该酶的一级结构。该基因已被定位到19号染色体的短臂上（19 p13,2）。利用cDNA分离了人增殖酶基因的DNA片段，并对该基因的结构组织进行了分析。该基因的大小超过140 kb，有15个外显子。我研究了增殖酶基因区域的RFLP，并对肌强直性营养不良家族的基因进行了RFLP分析。

Prolidase (peptidase D) is a ubiquitous enzyme which splits depeptides with a prolyl residue in the carboxy-terminal position. Polymorphisms of prolidase have been studies by gel electrophoresis, and a tight linkage of the polymorphisms and the myotonic dystrophy trait has been demonstrated. A cDNA probe for prolidase has been expected to be useful for genetic analysis of myotonic dystrophy.I isolated cDNA clones from human liver and placental cDNA libraries and deduced the primary structure of the enzyme. The gene has been mapped to the short arm of chromosome 19 (19 p13,2). Using the cDNA, I isolated DNA fragments from human prolidase gene and elucidated the structural organization of the gene. The size of the gene is more than 140 kb and has 15 exons.I investigated RFLPs in the region of prolidase gene and performed the RFLP analysis of genes from families with myotonic dystrophy.