Dissertation > Excellent graduate degree dissertation topics show

Study on mutation of familial isolated pituitary adenoma and sporadic pituitary adenoma AIP gene

Author: ZhangZuoDan
Tutor: WangRenZhi
School: Beijing Union Medical College
Course: Clinical
Keywords: Familial isolated pituitary adenoma AIP geneSporadic pituitary adenoma SNP
CLC: R736.4
Type: Master's thesis
Year: 2011
Downloads: 8
Quote: 0
Read: Download Dissertation

Abstract


Pituitary gland is one of the most important endocrine glands of the human being. The prevalence rate of pituitary adenoma with clinical symptoms is as high as7.2/10000. It is defined as familial isolated pituitary adenoma (FIPA) when two or more family members are diagnosed as pituitary adenoma and no evidence of MEN I or CNC was confirmed. About22%of FIPA families harbor mutations in AIP gene, while it is2-3%in sporadic pituitary adenoma patients. AIP probably exerts its impact on pituitary carcinogenesis by making interaction with AhR, which is a ligand-inducible transcription factor. No data is available for AIP mutations in FIPA or sporadic pituitary adenoma patients in the Chinese population for the moment.Objectives:This study takes familial isolated pituitary adenoma kindreds and sporadic pituitary adenoma of the Chinese population as the objectives. By testing the mutations of the AIP gene, we studied the mutations of AIP gene in the pituitary adenoma patients in the Chinese population. As a consequence, the study could provide more evidence for the diagnosis and treatment of pituitary adenoma in the Chinese population, moreover, for the pituitary carcinogenesis.Materials and Methods:Genomic DNA was extracted from the leukocytes in the peripheral blood in7FIPA patients and their family members (the FIPA group) and50sporadic pituitary adenoma patients (the sporadic group). All6exons of the AIP gene were sequenced for mutations, and the potential mutations were validated by sequencing the normal population of100cases (the population validation group).Results:This study detected1missense mutation (c.215T>G, p. Y72S) in AIP gene in one of the50sporadic pituitary cases. But no nonsense, deletion, insertion, missense mutations were found in the7probands in3FIPA kindreds. The age of onset of pituitary adenoma in the FIPA group is significantly younger than that of the sporadic group (P=0.005). As for the acromegaly patients, the age of onset of pituitary adenoma in the FIPA group is also significantly younger than that of the sporadic group (P=0.003). Besides from those,3distinctive SNP loci were detected in the Chinese population as follows:C774T. C807A和G1178C Conclusions:AIP mutation rate is fairly low in FIPA patients in the Chinese population. AIP gene is probably not a predisposing gene for FIPA patients in the Chinese population. The mutation rate of AIP gene in sporadic pituitary adenoma patient is about2%.

Related Dissertations

  1. Study of Chicken Δ~6 Fatty Acid Desaturase Gene’s Promotor Region Polymorphism and Gene Expression,S831
  2. Bioinformatics Study of Motifs Within 3’UTR Region of Stress Response Genes and Functional Related Mirnas in Rice,Q943.2
  3. Study on Diversity of CHS Gene from Buckwheat Germplasm Resources,S517
  4. Primary Studies of Exogenous Nitric Oxide on Muscle Larvae of Trichinella Spiralis in Vitro,R532.14
  5. Establishment and Application of High Resolution Melting Method for Detecting SNP in MDR1 Gene,R44
  6. Genetic Study of IL-15 in All and Generation of Anti-IL-1α Antibody and Related Study of IL-1α,R733.71
  7. A Haplotype of TGFBR1 is Predominantly Found in Non-small-cell Lung Cancer Patients Displaying TGFBR1 Allelic-specific Expression,R734.2
  8. Application of SNP Analysis by Pfu High-fidelity DNA Polymerase with Double Phosphorothioate Modified Allele Specific Primers in Direct Genotyping from Whole Blood,R91
  9. Direct PCR from Plasma on Chip and Establishment of a Microfluidic Chemiluminescence SNP Analytical System,R440
  10. The Effects of the VEGF Different Genotype Carriers on the Hypoxia Training to Acute Mountain Sickness,G804.2
  11. Impact of TET2 Mutations and An TET2 Single Nucleotide Polymorphism in Cytogenetically Normal Acute Myeloid Leukemia,R733.71
  12. Application Value of Non-COIDS STR and X-SNP Markers for Diffiuclt Relationship Testing,D919.2
  13. Screening for Mutation on miRNAs in CRCs,R735.35
  14. Susceptibility NALP3 gene polymorphism and genetic gouty arthritis,R589.7
  15. The Assocation of Transcription Factor 7-Like 2(TCF7L2) Polymorphisms with the Early Phase Function of β-Cell in Type 2 Diabetes Mellitus (T2DM),R587.1
  16. Construction of Glycosyltransferase β 3GnT2 、β3GnT8 Eukaryotic Expression Vector and β 3GnT8 RNA Interference Cell Lines SGC-7901 and Effect of β 3GnT8 on the mRNA Expression of Related Genes,Q78
  17. Methylation of the BRCA1 gene and SNP and sporadic breast Correlation,R737.9
  18. Genetic Variation in CD226 Gene and Systemic Lupus Erythematosus,R593.241
  19. The E-cadherin Promoter-160 C/A Polymorphism and Nasopharyngeal Carcinoma in a Chinese Population,R739.63
  20. Maximum Entropy Algorithm in Application of SNP-Disease Association Study,R394
  21. EGF 61 G / A and glioma susceptibility analysis,R739.4

CLC: > Medicine, health > Oncology > Internal endocrine tumors > Pituitary tumor
© 2012 www.DissertationTopic.Net  Mobile