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

脯氨酰二肽酶（肽酶D）是一种普遍存在的酶，其在羧基末端位置裂解具有脯氨酰残基的脱肽。已通过凝胶电泳研究了氨酰基脯氨酸二肽酶的多态性，并已证明多态性与强直性肌营养不良性状的紧密连锁。脯氨酰二肽酶的cDNA探针有望用于强直性肌营养不良的遗传分析。我从人肝脏和胎盘cDNA文库中分离cDNA克隆，并推导出该酶的一级结构。该基因定位于19号染色体短臂（19 p13，2）。利用该cDNA，我从人脯氨酰二肽酶基因中分离了DNA片段，并阐明了该基因的结构组织。该基因大小超过140 kb，有15个外显子，本研究对脯氨酰二肽酶基因区域进行了RFLP分析，并对强直性肌营养不良家系的基因进行了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.