假肥大型肌营养不良症的产前基因诊断-遗传学专业论文.docxVIP

中山大学硕士学位论文 中山大学硕士学位论文 假肥大型肌营养不良症的产前基因诊断 Prenatal Gene Diagnosis of Duchenne and Becker muscular dystrophy Major：Genetics Name：Li Qing Supervisor：Jiang Weiying Associate professor ABSTRACT Background：Duchenne and Becker muscular dystmphy(DMD／BMD)is an X—linked lethal recessive genetic disease caused by mutations in the dystrophin gene located on the short arm of the X chromosome(Xp2 1)．It is one of the most serious and common Inherited neuromuscular diseases， affecting approximately 1 in 3，500 newborn males．In a typical affected male， clinical symptoms arise around the age of 3 with progressive muscle weakness． The patient is non—ambulatory by the age of 9 or 1 0 and usually dies by 20， following cardiac or respiratory complications． BMD is a mild form characterized by a later and slower disease course．with death generally occurring in the age of 30 or 40．The mothers are genemlly asymptomatic carriers who pass on the disease． Presently，there is no efficient treatment for this serious and disabling disease．The families have the heavy burden associated with the loss of autonomy caused by the disease，which suffers its psychological and social consequences．Genetic counseling and gene diagnosis allowing the identification of carriers are therefore the only solutions offered to DMD HI 中山大学硕士学位论文 中山大学硕士学位论文 假肥大型肌营养不良症的产前基因诊断 families．Carrier detection and DNA—based prenatal diagnosis may be performed when the disease—causing mutation has been detected in an affected individual Objective：To establish a combination method for detecting DMD patients and carriers and performing prenatal diagnosis． Method：In our study．using a different combination of 5 methods， including SRY gene amplification，multiplex PCR，multiplex Fluorescence PCR capillary electrophoresis，multiplex ligation—dependent probe amplification (MLPA)、linkage analysis of short tandem repeats(STR)and Fluorescence In situ Hybridization(FISH)method．44 prenatal diagnosis were performed for pregnancies a