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頁籤選單縮合
題 名 | Molecular Diagnosis of Gaucher Disease Type Ⅱ=第二型高雪病(Gaucher disease)的分子生物學診斷 |
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作 者 | 蔡輔仁; 陳鉉煒; 彭慶添; 蔡長海; 胡務亮; 王作仁; 劉素卿; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷 期 | 36:5 民84.09-10 |
頁 次 | 頁346-350+390 |
分類號 | 415.96 |
關鍵詞 | 高雪氏症; 突變分析; Gaucher disease; Mutation analysis; |
語 文 | 英文(English) |
中文摘要 | Gaucher disease在中國人是一種罕見的自體隱性遺傳疾病,其中第二型會侵犯神經系統,並造成病人在嬰幼兒期死亡,診斷以臨床症狀及酵素分析爲主。最近,分子生物診斷學日新月異,利用聚合酶鏈反應的技術,我們發現一例中國人以同合子1448C突變基因型爲表現的第二型Gaucher disease,由於這樣的發現將對於Gaucher disease提供更可靠的診斷方式,並可應用於遺傳咨詢及産前診斷。 |
英文摘要 | Gaucher disease is a rare autosonial recessive lysosomal storage disorder in Chinese. A mutation at nucleotide 1448C (T-to-C) of the glucocerebrosidase gene is described in type 2 Gaucher disease. This mutation creates a Bcn I site in a polymerase chain reaction (PCR) amplified fragment. This technique was applied to a Chinese infant with type 2 Gaucher disease, and homozygosity for 1448C mutation was proved. This new finding can make prenatal diagnosis and carrier detection possible in Chinese population with type 2 Gaucher disease. |
本系統中英文摘要資訊取自各篇刊載內容。