强直性肌营养不良(MD)是一种常染色体显性遗传性疾病,常以进行性肌无力、肌强直及白内障为特征;其它表现如心肌病、生殖腺萎缩、额秃、精神发育迟滞、新生儿肌张力减退并呼吸窘迫。患病者的临床表现各异,从无症状到死于婴幼期及青春期。最近的遗传连锁研究证明MD位于19号染色体上几个可测定距离的遗传位点之间。本研究论证连锁关系的临床用法,包括MD产前诊断的可能性。来自五个典型MD家系的40例资料,包括受累者及未受累者的家系成员及相应的配偶。MD的诊断以物理检查,肌电图,前房裂隙灯检查结果为基础,采集血清和唾液标本以测定Lutheran和 Myotonic dystrophy (MD) is an autosomal dominant genetic disorder often characterized by progressive myasthenia, myotonia and cataracts; other manifestations include cardiomyopathy, gonadal atrophy, baldness, mental retardation, Muscle tension decreased and respiratory distress. The patient’s clinical manifestations vary from asymptomatic to dying in infancy and adolescence. Recent genetic linkage studies have demonstrated that MD is located between several measurable genetic loci on chromosome 19. This study demonstrates the clinical utility of linkage relationships, including the possibility of prenatal diagnosis of MD. Forty cases of data from five typical MD pedigrees, including members of the pedigrees and their non-affected family members and corresponding spouses. Diagnosis of MD Based on physical examination, electromyography, anterior chamber slit lamp examination results, serum and saliva samples were collected to determine Lutheran and