Dissertation > Excellent graduate degree dissertation topics show

Phenotype-genotype Study of Chinese Patients with Duchenne/Becker Muscular Dystrophy

Author: ZhangYanZhi
Tutor: HaoQingYing；XiongZuo
School: Shanxi Medical
Course: Pediatrics
Keywords: DMD/BMD Gene amplification Gene deletion/duplication MLPA
CLC: R746.2
Type: Master's thesis
Year: 2011
Downloads: 27
Quote: 0
Read: Download Dissertation

Abstract


BackgrounBackground Duchenne/Becker muscular dystrophy (DMD/BMD) is a serious X-linkedneuromuscular disorder. It primarily involved the skeletal muscle, characterized by weakness andmuscle atrophy of hereditary muscle disease following a slow progressive increase of symmetry,may be associated with cognitive impairment at rest and myocardial damage. DMD seriouscondition in which a poor prognosis, usually died around the age of 20 due to respiratory failureor heart failure; BMD is a relatively slow progress, and the patients can still have the ability towalk after the first 15 to 20 years .Because the disease is currently no effective treatment, it isefficient and accurate detection of disease genes DMD, and the detection of carrieries, prenataldiagnosis and genetic counseling as the key to preventing this disease.Objective To establish molecular genetic methods for the diagnosis of DMD / BMD，and helpsome families for genetic counseling and prenatal diagnosis；Analyzed the relationship betweengenotype and phenotype.Methods Collected and summarized the information of 100 DMD/BMD patients which werecollected in Peking University First Hospital, Some patients received muscle biopsy and routinepathological checks and immunohistochemistry staining was performed on biopsied musclespeciments with some antibodies. Genomic DNA was extracted using standard procedures fromthe peripheral blood leukocytes, and multiplex ligation-dependent probe amplification (MLPA)was applied to detect DMD gene to identify genetic mutation. These data were collected fromPeking University First Hospital and these works were all finished in pediatrics lab andneuropathologic lab of Peking University First Hospital.Results 1.Among 100 cases of clinical diagnosed DMD/BMD patients, exons deletion of DMDwas detected in 63 cases (63%)，exons duplication in 9 (9%). Among 34 mothers with an affectedboy but without previous genetic conformation, 17 were confirmed to be carriers with genedeletion/duplication.Prenatal diagnosis was provided for one mother in her next pregnancydetecting a female carrier fetus.2. The data showers that frameshift rules can explain the relationship between DMDexon deletion/ duplication and the clinical severity, the rate is 77.78%(56/72)Conclusion 1. MLPA is a non-complex and quick diagnostic tool for DMD/BMD and its carriers,and also helpful in genetic counseling. 2. DMD gene deletions mainly occurs between exons 45-54, while duplicationsmostly at 5’-terminus.3.Mutation types of Chinese DMD/BMD patients conform the reading-frame rule

Related Dissertations

  1. Rapid Molecular Diagnosis of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency,R725.8
  2. Detection of HER-2 Gene Amplification by TMA and FISH in Breast Cancer,R737.9
  3. Detection of APC Gene Germline Mutations in Chinese Familial Adenomatous Polyposis Families,R735.3
  4. Study on the Dystrophin Gene of Duchenne/becker Muscular Dystrophy Patients and Carriers Applying MLPA,R746.2
  5. Deletion Duchenne muscular dystrophy and carrier detection system improvement and its application,R746.2
  6. Accuracy of FISH for 3q26 Gains as a Screening Marker in Cervical Cancer,R737.33
  7. Effects of Altered Distribution of β-catenin and Related Influence Factors on Progression of Colorectal Cancer in Chinese,R735.3
  8. DNA Copy Number Aberrations and MiRNA Expression in Gastric Cancer,R735.2
  9. Clinicopathological Study on Biomarkers for Gastric Carcinoma,R735.2
  10. Amplification and Expression of PIN1 Gene in Human Laryngeal Squamous Cell Carcinoma,R739.65
  11. Development of Rapid Detection Technique and Expression of rpf Gene of Micrococcus Luteus,S854.43
  12. Study on Detecting Colorectal Cancer Micrometastases in Lymph Nodes by Nested Reverse Transcriptase-Polymerase Chain Reaction Amplification of Cytokeratin 20 and Matrix Metalloprotreinase-7,R735.3
  13. Head and neck squamous cell carcinoma p14 ~ (FRF)-mdm2-p53 pathway abnormalities research,R739.91
  14. Streptomyces griseus RX-17 lysozyme gene library construction and screening,Q785
  15. Study on STK15 Amplification and Expression in Laryngeal Carcinoma,R739.62
  16. ATP7A Genetic Analysis of Menkes Disease,R748
  17. The Expression of Sarcoglycans in Patients with Progessive Muscular Dystrophy and Its Clinical Pathological Analysis,R746.2
  18. Single gene mutation screening of genetic diseases and in vitro expression system identification,R596
  19. The Mechanism of Low HBsAg Level in Chronic Hepatitis Patients,R512.62
  20. Rapid Prenatal Diagnosis of Chromosomal Aneuploidy Using Real-time Multiplex Ligation-dependent Probe Amplification (Real-time MLPA),R714.5

CLC: > Medicine, health > Neurology and psychiatry > Neurology > Neuromuscular disease > Muscular dystrophy
© 2012 www.DissertationTopic.Net  Mobile