Dissertation > Excellent graduate degree dissertation topics show

Gansu Province deaf students of clinical epidemiology and molecular epidemiological studies

Author: LiuXiaoZuo
Tutor: GuoYuFen；WangQiuJu
School: Lanzhou University
Course: Department of Otolaryngology - Head and Neck Surgery
Keywords: Clinical Epidemiology Non-syndromic deafness Drug-induced deafness Hereditary deafness GJB2 gene SLC26A4 gene Mitochondrial DNA Allele Mutation
CLC: R764.43
Type: Master's thesis
Year: 2008
Downloads: 77
Quote: 0
Read: Download Dissertation

Abstract


Hearing loss is the main reason leading verbal communication, due to congenital severe or very severe hearing loss, children in the critical period of language development to establish normal language learning can not be caused by the deaf. Current research indicates that congenital deafness, about 60% of deafness caused by genetic factors, 40% related to environmental factors. Hearing loss caused by environmental factors causes ototoxic drugs, auditory trauma, bacterial infections and viral infections. The deafness caused by genetic factors, including syndromic deafness (sydromic hearingimpairment, SHI) (30%) and non-syndromic deafness (nonsydromic hearing impairment, NSHI) (70%), syndromic deafness deafness is pointed outside patients have abnormalities of other organs and systems, non-syndromic deafness deafness means that only the symptoms, not associated with other organ system abnormalities. Because it is non-syndromic deafness deaf patients accounted for 70%, so this study is to use our collected 801 cases of non-syndromic deaf students deaf population in the area of ??clinical epidemiology and molecular epidemiology study, hearing loss from environmental and genetic factors in terms of both deaf students to explore the region, the main causes of deafness. Specific content includes the following two parts: The first part of the Gansu Province deaf students clinical epidemiology etiology of this study is to analyze the deaf population in Gansu Province for the clinical etiology of deafness, deaf clearly different factors in the region deafness The distribution characteristics and popular rule. The subjects were 801 cases in Gansu province rely entirely on sign language for the deaf students; Questionnaires were used way of home visits and telephone acquisition history, systemic and ear specialist examination to exclude syndromic deafness and otitis media, professional division audiometry audiological testing to determine the degree of hearing loss. Test results showed that 801 cases of deaf students are very severe to severe hearing loss in patients with non-syndromic deafness, including 326 cases of drug-induced deafness, accounting for 40.69% of all deaf patients (326/801), and aminoglycosides antibiotics (aminoglycoside antibiotic, AmAn) of all drug-induced deafness deafness 86.5% (282/326): infection of the mother during pregnancy, neonatal diseases and diseases caused by infantile deafness 156 cases, accounting for 19.48% of all deaf students ( 156/801): 801 cases of deaf students in hereditary deafness 85 cases, accounting for 10.61% of all deaf students (85/801). Thus, drug-induced hearing loss is the cause of deafness in the region leading cause of morbidity, followed by newborns and infants diseases, while hereditary deafness deafness also led a major factor in the region. The second part of the Gansu region 801 cases of deaf students molecular epidemiological analysis to explore the second part of the contents of the common deafness genes GJB2, SLC26A4 gene and mitochondrial DNAA1555G (Mitochondrial DNA, mtDNA) mutations in the Gansu region in patients with non-syndromic deafness The mutation frequency and major mutations way. After extraction of genomic DNA was amplified by PCR using the coding region of GJB2 gene, SLC26A4 gene exon 7,19 and mitochondrial DNA fragment with AIw26 I restriction endonuclease A1555G point mutation detection of enzyme-positive cases PCR products and GJB2 gene coding region, SLC26A4 gene at 7,19 exons were directly sequenced, using DNAStar5.0 or BioEdit software for sequencing analysis of results. The results showed that 801 cases of non-syndromic deaf patients were detected 125 cases occurred GJB2 gene mutation rate was 15.61% (125/801), in which pairs of alleles (homozygous or compound heterozygous) mutation rate was 8.99% (72/801), 235delC accounted for 78.79% of all mutations (156/198). 101 people occurred SLC26A4 gene IVS7-2A> G, H723R, and T721M mutation rate was 12.61% (101/801), in which biallelic mutation rate of 5.12% (41/801). 67 cases confirmed by restriction analysis and direct sequencing of mitochondrial DNA A1555G mutation frequency of 8.36% (67/801). Of which 15 cases (15/67) of patients whose maternal family members there are two or more deaf patients. Through this study can be found in Northwest China Non-syndromic deaf patients, 235delC GJB2 gene is the most common mutation way. IVS7-2A> G and H723R mutation is the main way of SLC26A4 gene, mitochondrial DNA A1555G mutation is the region's major causes of deafness. Through the above three kinds of genetic testing, will be 22.47% (8.99% 5.12% 8.36%) and non-syndromic deaf patients to provide a clear diagnosis and molecular etiology for 36.58% (15.61% 12.61% 8.36%) of the non- syndromic deaf patients given effective genetic counseling, to reduce the incidence of deafness in the region.

Related Dissertations

  1. Study of Mutation and Breeding of Griseofulvin Produccing Strain FS80,TQ927
  2. Breeding of Fungal α-amylase High-producing Strain by Genome Shuffling,TQ925
  3. Study on the Breeding of High Efficient Detoxification Strains and Suggestion Parameters of Solid Fermentation on Cottonseed Meal,S816.6
  4. Incidence and Mechanisms of Insecticide Resistances to Organophosphates and Carbamates in Colorado Potato Beetle, Leptinotarsa Decemlineata (Say),S435.32
  5. Screening, Bio-Characteristics and Biopulping Application of a High Pectin-Degrading Baeterial Strain by Ultraviolet-Ray Mutation,TS713
  6. Studies on Extracting Mitochondrial DNA and Gene Expressions in Brassica Napus L,S565.4
  7. Preliminary Studies on Constructing Brassica Napus L Mutant Library by EMS Inducement,S565.4
  8. Research on the Mutation Breeding of Flavomycin and Regulation of Fermentation Techniques,TQ920.6
  9. Mutation Inducing Breeding of Avilamycins Production and Optimization of Fermentation Conditions,TQ927
  10. The Study on Breeding and Fermentation Conditions of a Selenium-Riched Yeast and Its Application Research,TS201.25
  11. The Study of Mutation in the CRX Gene Associated with Late-onset Genetic Retinitis Pigmentosa (RP),R774.1
  12. Effect of Single and Double Mutations of Yeast H3K79L、H4K20L on the Function of ELP3 and Expression of SSA3,Q75
  13. Study on the Screening of Doramectin-producing Strains by Nitrogen Ion Implantation and Optimization of Fermentation,S859.79
  14. The Phenomenon That Antibodies Were Activated by Non-corresponding Antigen in Immune Response and the Correlations with H2-Eb Polymorphism,R392
  15. Influences of Temperature on SCF/c-kit Prolifertation Pathway and Cell Cycle of Rat Spermatogonial Cells Cultured in Vitro,R698
  16. The Significance of Expression and Genetic Mutation of Cx26, Cx32 in the Pathological Skin Scar and Scar Carcinoma,R739.5
  17. CHST6 Mutations and Histopathologic Study in Macular Corneal Dystrophy,R772.2
  18. Nutritional composition aplastic anemia mice effect of mitochondrial damage restoration,R556.5
  19. Chinese people early-onset type 2 diabetes , IGT / IFG patients were paired box gene 6 gene mutation / mutation screening,R587.1
  20. The Study of Clinical Chracteristics and Pathogenesis of Thrombotic Thrombocytopenic Purpura,R554.6
  21. Clinical Epidemiological Survey and Analysis on Cholelithiasis in Zunyi Region,R657.4

CLC: > Medicine, health > Otorhinolaryngology > Otology,ear disease > Ear nervous system diseases > Deaf
© 2012 www.DissertationTopic.Net  Mobile