Repository logo
  • English
  • 中文
Log In
Have you forgotten your password?
  1. Home
  2. College of Medicine / 醫學院
  3. Molecular Medicine / 分子醫學研究所
  4. Genetic Diagnosis and Counseling of Retinoblastoma
 
  • Details

Genetic Diagnosis and Counseling of Retinoblastoma

Date Issued
2011
Date
2011
Author(s)
Jan, Shu-Yun
URI
http://ntur.lib.ntu.edu.tw//handle/246246/247397
Abstract
Retinoblastoma (RB) is a neoplasm of retinal origin caused by mutations in RB1 gene, the retinoblastoma tumor suppressor gene. To facilitate patient classification and to provide proper genetics counseling, we adopted a multistep molecular screening protocol for detecting RB1 mutations. This protocol included DNA sequencing to identify mutations within coding exons and immediate flanking intronic regions, Multiplex Ligation-dependent Probe Amplification (MLPA) to detect RB1 gene deletions or duplications, MS-MLPA (methylation specific-MLPA) to detect methylation the promoter of RB1 gene. We have collected samples from a total of 63 RB patients. In the 41 patients who have provided peripheral blood, we identified germline RB1 mutations in 16 out of 17 bilateral RB patients (94.1%), and 5 out of 24 unilateral patients (20.8%). In the 22 patients who provided both peripheral blood and tumor tissues, we identified germline RB1 mutations in 5 out of 5 bilateral RB patients (100%), 3 out of 17 unilateral patients, and somatic RB1 mutations in 7 out of 17 unilateral patients (58.8%). In the 22 tumor tissues provided, a total of 13 patients (59.1%) showed loss of heterozygosity (LoH), while only one patient was detected with promotor methylation of RB1 gene (4.5%). We have identified biallelic RB1 gene inactivation, and some conformed with "Two-Hits Hypothesis". In some of the samples, only one of the two RB1 mutations was detected. However, there remained some samples with no mutations detected. Nevertheless, from the MS-MLPA result, the absence of detectable RB1 mutations in the unilateral tumors is presumed to be caused by other genetic mechanisms or genes in the development of RB. Through this genetic diagnosis, we hope to provide the most suitable genetic counseling for Retinoblastoma patients.
Subjects
Retinoblastoma (RB)
Tumor suppressor gene
Loss of heterozygosity (LoH)
Germline mutation
Somatic mutation
Two-Hits Hypothesis
Type
thesis
File(s)
Loading...
Thumbnail Image
Name

ntu-100-P97448001-1.pdf

Size

23.32 KB

Format

Adobe PDF

Checksum

(MD5):c3b4a6484a2e78d2b4ba78d1b0da5153

臺大位居世界頂尖大學之列,為永久珍藏及向國際展現本校豐碩的研究成果及學術能量,圖書館整合機構典藏(NTUR)與學術庫(AH)不同功能平台,成為臺大學術典藏NTU scholars。期能整合研究能量、促進交流合作、保存學術產出、推廣研究成果。

To permanently archive and promote researcher profiles and scholarly works, Library integrates the services of “NTU Repository” with “Academic Hub” to form NTU Scholars.

總館學科館員 (Main Library)
醫學圖書館學科館員 (Medical Library)
社會科學院辜振甫紀念圖書館學科館員 (Social Sciences Library)

開放取用是從使用者角度提升資訊取用性的社會運動,應用在學術研究上是透過將研究著作公開供使用者自由取閱,以促進學術傳播及因應期刊訂購費用逐年攀升。同時可加速研究發展、提升研究影響力,NTU Scholars即為本校的開放取用典藏(OA Archive)平台。(點選深入了解OA)

  • 請確認所上傳的全文是原創的內容,若該文件包含部分內容的版權非匯入者所有,或由第三方贊助與合作完成,請確認該版權所有者及第三方同意提供此授權。
    Please represent that the submission is your original work, and that you have the right to grant the rights to upload.
  • 若欲上傳已出版的全文電子檔,可使用Open policy finder網站查詢,以確認出版單位之版權政策。
    Please use Open policy finder to find a summary of permissions that are normally given as part of each publisher's copyright transfer agreement.
  • 網站簡介 (Quickstart Guide)
  • 使用手冊 (Instruction Manual)
  • 線上預約服務 (Booking Service)
  • 方案一:臺灣大學計算機中心帳號登入
    (With C&INC Email Account)
  • 方案二:ORCID帳號登入 (With ORCID)
  • 方案一:定期更新ORCID者,以ID匯入 (Search for identifier (ORCID))
  • 方案二:自行建檔 (Default mode Submission)
  • 方案三:學科館員協助匯入 (Email worklist to subject librarians)

Built with DSpace-CRIS software - Extension maintained and optimized by 4Science