臺灣博碩士論文加值系統

視網膜胚細胞瘤為一種小孩子的眼睛癌, 好發於4歲以下的兒童身
上, 大致上可分為遺傳及非遺傳兩種類型; 國外研究發現大約35%至40%的
患者是屬於遺傳性疾病, 約85% 患者具有雙眼的眼睛癌; 另有約60%至65%
的患者是屬於非遺傳性疾病, 其家族中並沒有相關的眼睛疾病, 或患有此
癌症, 患者多為體細 胞突變 (somatic mutation), 而非遺傳細胞突變
(germ-line mutation), 且多為單眼癌症。 本研究透過高雄醫學
院附設中和紀念醫院眼科與高雄榮民總醫院眼科 , 一共收集了六例患有
視網膜胚細胞瘤的病患, 女性佔66.7 % ( 4/6 ) 男性佔 33.3 % ( 2/6 )
, 左右眼睛比為2比4; 應用RB1 exon by exon 的聚合 鏈鎖反應
(polymerase chain reaction)及非放射性單股構造多型性 (nonisotopes
single-stranded conformational polymorphisms ) 等 分子生物技術,
分析比對病患患部組織及家族血液的DNA樣本, 結果發現有 2例33.3%
(2/6)為體細胞突變而非遺傳細胞突變,且其變異點均處於 exon 13, 另
外4例的所有家族的血液DNA, 經過SSCP 的分析比對結果並沒有任何的異
常, 所以沒有証據顯示該四個案例是由於基因遺傳所引起的。 關鍵字 :
視網膜胚細胞瘤， 聚合 鏈鎖反應，非放射性單股構造多型性

Abstract Retinoblastoma is a cancer
of the retina that appears predominantly in children younger
than four years of age. It occurs in both hereditary and
nonhereditary forms and approximately 35 % ~ 40 % of all
patients have hereditary disease. 85 % of patients with
bilateral retinoblastoma have the inherited mutations. In
contrast, sporadic or nonheritable retinoblastoma accounts for
approximately 60 % ~ 65 % of cases. In these cases, the tumors
are typically unilateral and have not a family history of eye
disease or retinoblastoma . Nonhereditary forms, retinoblstoma
is caused by a somatic mutation not germ-line mutation. In
this study, there are 6 retinoblastoma cases from the
ophthalmology of KMC and Veterans General Hospital - Kaohsiung .
Four of them are female and 2 of them are male . Of them, 66.7 %
are right eyes and 33.3 % are left eyes . Detection of mutations
of the RB1 gene in retinoblastoma patients that DNAs obtain from
tissue and blood by using exon by exon PCR and SSCP analysis
.Two ( 33.3% ) retinoblastoma cases are caused by a somatic
mutation not germ-line mutation and their exon 13 DNA have
mutation . The other cases are not found any abnormal after
detection of blood DNA for SSCP. Key words :
Retinoblastoma, PCR, SSCP