Dissertation > Excellent graduate degree dissertation topics show

Molecular Epidemiology Investigation of Common Deafness Genes in Deafness Patients of Different Ethnic Origins in Northwest China

Author: ManRongJun
Tutor: GuoYuFen
School: Lanzhou University
Course: Otorhinolaryngology
Keywords: Hearing-impaired Gene mutation Mitochondrial DNA gene GJB2 gene SLC26A4 gene
CLC: R764.43
Type: Master's thesis
Year: 2009
Downloads: 91
Quote: 0
Read: Download Dissertation

Abstract


Deafness is a major human diseases result in verbal communication barriers, there is one in every 1,000 newborns in patients with congenital deafness. Hereditary deafness has a high degree of genetic heterogeneity and differences in mutation frequency of the different regions and different populations deafness gene mutations way and hotspot mutations. The present study show that many have made it clear deafness genes in the population have a higher mutation frequency deafness gene GJB2 gene SLC26A4 gene the mitochondrial DNA12SrRNA gene, TMC1 genes and POU3F4 gene. In recent years, the popular distribution of several common deafness genes in our population has been some progress and found most of the domestic research carried out in the Han population, common in ethnic minority deaf population deaf molecular epidemiological studies of the gene is relatively small. Therefore, the study of the more concentrated areas of northwest minority people in China to carry out the deafness gene molecular epidemiological studies, to understand deafness gene popular distribution of the ethnic minority areas and ethnic minority populations in northern China, the main contents of our study consists of the following composed of two parts: the first part of northwest China ethnic minorities and Han deaf patients GJB2 gene mutation molecular epidemiological study of the research carried out in patients with a total of 559 cases of deafness in Northwest China Uygur, Hui, Mongolian and Han GJB2 gene mutation detection in GJB2 gene mutations detected in all four national high carrier rate of GJB2 gene mutations in patients of various nationalities deafness. Mutations were detected in the four ethnic 235delC Moreover, 235delC of mutation is the most common mutation in every nation, which, 235delC mutation carrier rate of Han (15.2%), the Mongolian lowest (3.8%). The four ethnic detected 299-300delAT. Uighur patients 235delC, 35delG have higher mutation carrier rate (7.1% and 5.2%) in Uygur patients detected two new mutations the type (187delG and 311del14). Hui patients detected two cases 35delG mutation patients. Hui, Mongolian and Han GJB2 gene molecular epidemiological characteristics are basically the same. The second part of the Xinjiang Uygur Autonomous Region, different ethnic deaf students SLC26A4 gene and the mitochondrial DNA12SrRNAA1555G mutations in molecular epidemiology studies this study, 402 patients with sensorineural in the Xinjiang Uygur Autonomous Region, the Han, Uygur, Kazak, Kirgiz, Hui and Mongolian nerve deafness patients with mitochondrial DNA12SrRNA A1555G and SLC26A4 gene mutation detection, detected in the Han and Uygur patients out the mitochondrial DNA12SrRNAA1555G mutation, the mutation carrier rate of 3.8% and 1.4%, respectively, mitochondrial DNA12SrRNA A1555G mutation is common in the Han and Uygur population deafness pathogenic gene. Han and Uygur patients detected SLC26A4 gene IVS7-2A> G mutation, the mutation carrier rate of 9.5% and 0.9%, respectively, IVS7-2A> G mutation is important pathogenic mutations Han deaf patients, Han and Uygur populations SLC26A4 gene hotspot mutation differences. Uighurs SLC26A4 gene in patients with more comprehensive detection, as well as to expand the sample size of the population of other ethnic groups of the region deafness, in order to further clarify the different ethnic groups of the region Deafness gene molecular epidemiological characteristics.

Related Dissertations

  1. CHST6 Mutations and Histopathologic Study in Macular Corneal Dystrophy,R772.2
  2. Chinese people early-onset type 2 diabetes , IGT / IFG patients were paired box gene 6 gene mutation / mutation screening,R587.1
  3. Comparative Studies of DNA Microarray and Sequencing in Genetic Diagnosis on the Patients with Enlarged Vestibular Aqueduct Syndrome,R764
  4. Expression of Bovine Scrapie Prion Protein Gene PrP102-242 and PrP1-264 in COS-7 Cells,S852.659.7
  5. Mutational Analysis of SLC26A5 IVS2-2A>G in Chinese Han Patients with Non-syndromic Hearing Loss,R764
  6. Screening of Gene Mutations in Hereditary Disease by HRM and Detecting β- thalassemia in Clinic,R725.5
  7. Mutation Maps Drawing and Analysis of Common Deafness Genes among Non-syndromic Hearing Loss in Northwest China,R764.43
  8. Research on Clinical Features and Mitochondrial DNA Mutation Analysis of Hereditary Spastic Paraplegia Type 4 (SPG4) Patients,R741
  9. Investigation of SLC26A4 Mutations Associated with Large Vestibular Aqueduct Syndrome and Mondini Dysplasia,R764
  10. An Analysis of Influence Factors of Newborn Hearing Screening in NICU,R764
  11. A Relative Study on the Patients with Non-syndromic Hereditary Hearing Loss of GJB2 Gene Mutations and Kidney Deficiency and Blood Stasis in Uyghur and Han in Xinjiang,R764
  12. Large vestibular aqueduct syndrome SLC26A4 gene mutations in clinical research,R764
  13. Qingdao region of hepatitis B virus the BCP gene mutation and hepatitis B virus associated with primary liver cancer,R512.62
  14. The Norm Revision of H-NTLA and Intelligence Comparing Study of Children from 3 to 7 years Old in China,R749.94
  15. Resistance Level and Mechanism of Penicillium Digitatum from Quzhou, Zhejiang to Imazalil and Carbendazim,S436.66
  16. Children with low alkaline hypophosphatasia bone marrow mesenchymal stem cells and biological behavior of deciduous dental pulp stem cells experimental study,R725.9
  17. Molecular Epidemiology Analysis of Deaf-mute Patients in the Co-relationship between SLC26A4 Gene and Enlargement of Vestibular Aqueduct Among Deaf-mute Patierntes in Yunnan Province,R764.43
  18. The Genetic Study of Epidermolytic Palmoplantar Keratoderma in a Uighur Family,R758.5
  19. Research about Syntax of Written Language of Hearing-impaired People,G762
  20. Two common techniques used in DHPLC mutation analysis of birth defects,R440
  21. Hepatitis C virus recombinant vaccine rAd/E2 and rAd / △ E2 experimental study,R512.63

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