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基因与医疗产业
跨領域對話小聚
2015年10月14日
何謂基因
基因是決定生物體內各種生理表
徵與功能的基本遺傳單位
從遺傳說起
DNA與基因
DNA是自然界記錄基因的
方式
DNA與雙螺旋(Double
Helix)
對偶基因(Allele)
人類有介於20000到25000個基
因,其中有99%的基因是一樣的
基因在哪裡?
從人類的角度來說,排除少數例
外,大部份DNA存於細胞的細胞
核內
染色體與遺傳的基本概念
DNA聚在一起形成染色體
人類大部份細胞內有23對,46
條染色體
細胞分裂與減數分裂(Mitosis &
Meiosis)
從基因到蛋白質
蛋白質是人體內維持細胞運作的
幕後推手,而基因則是製造蛋白
質的藍圖
蛋白質的功能:維持細胞結構,酵
素,傳遞訊息等
從基因/DNA到蛋白質分成兩個階段
- 轉錄(transcription)與轉譯
(translation)
轉錄:根據DNA序列來製造
mRNA
轉譯:根據mRNA序列來製造
多肽鍊
一至多個多肽鍊形成蛋白質
從基因到蛋白質
轉錄與轉譯
基因與疾病
大部份疾病的形成是先天基因與
後天環境互動的結果
癌症
乳癌基因(BRCA1 & 2 突變)
慢性病
糖尿病(HLA-DQA1, DQB1,
DRB-1)
傳染病(保護作用)
HIV(CCR5-delta32 突變)
瘧疾(一半血紅素基因突變)
基因定序
將生物體內的DNA萃取出後進行
排序,以便分析此生物是否帶有
某特定基因序列
21世紀初期人類基因體定序剛剛完成
,成本高昂
2007 年左右次世代定序技術出現,
大幅降低了人類基因體定序的成本
基因与医疗产业
產業介紹 -
23andMe
公司於2006年創於美國加州
透過採集客戶的唾液來分析其
DNA序列,提供客戶超過90種
生理表徵或疾病的風險,或者
其血統相關資訊
美國政府於2013年底起勒令該公司
停止提供健康相關服務,只容
許其提供血統相關資訊給客戶
產業介紹 - 基龍
米克斯
基龍米克斯(Genomics)為一家台
灣本土的基因產業公司
主要提供次世代定序與基因檢測
服務(孕前檢測,產前檢測,癌
症風險評估)
基龍米克斯採集血液檢體後寄到
美國Myriad Genetics公司的實驗
室,分析後將報告寄回台灣
爭議?
產業介紹 -
Myriad Genetics
公司於1992年創於美國猶他州
透過DNA檢測來預測客戶的癌症
風險與得癌症後進行化療時對
不同藥物的反應
曾獲得BRCA1&2基因的專利,但
被Association for Molecular
Pathology提告,官司打到最高
法院,2013年判定Myriad不得替
自然產出之基因申請專利,
BRCA1&2專利無效
謝謝大家
Q&A
爭議(1):基因資訊是否可提供給民
眾?
爭議(2):基因是否為個人隱私?
爭議(3):我們是否可根據基因資訊
來從事醫療或保險行為?
基因与医疗产业
參考資料
Genetics Home Reference @http://ghr.nlm.nih.gov/handbook/basics/gene
Genetics Home Reference@http://ghr.nlm.nih.gov/gene/HLA-DQA1
DNA到蛋白質的過程@http://web2.tmu.edu.tw/m110093011/DNA2protein.htm
Scitable(Viruses
101)@http://www.nature.com/scitable/blog/viruses101/hiv_resistant_mutation
Scitable(Protein Function)@http://www.nature.com/scitable/topicpage/protein-function-
14123348
CDC(Malaria)@http://www.cdc.gov/malaria/about/biology/sickle_cell.html
Wikipedia(23andMe)@https://en.wikipedia.org/wiki/23andMe
Genomics@http://www.genomics.com.tw/tw/health_products_info.php?type=26&sn=155
Wikipedia(Myriad)@https://en.wikipedia.org/wiki/Myriad_Genetics
National Human Genomic Research Institute(Sequencing
Cost)@http://www.genome.gov/sequencingcosts
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基因与医疗产业

Editor's Notes

  • #3: human has over 3 billon basepair of DNA
  • #4: mitosis -> 1 to 2 cells meiosis -> 1 to 4 cells
  • #7: BRCA1&2 -> tumor suppressor HLA-DQA1 - > immune system