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題 名 | Molecular Characterization of Chinese G6PD Deficiency by Using Polymerase Chain Reaction/Single Strand Conformation Polymorphism=利用聚合鏈酶反應/單股核酸構形多形性分析研究中國人葡萄糖-6-磷酸去氫酶缺乏者之分子生物學特性 |
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作 者 | 陳百薰; 林綉茹; 江建華; 趙美琴; | 書刊名 | The Kaohsiung Journal of Medical Sciences |
卷 期 | 14:4 1998.04[民87.04] |
頁 次 | 頁197-202 |
分類號 | 415.121 |
關鍵詞 | 聚合鏈酶反應/單股核酸構形多形性分析; 葡萄糖-6-磷酸去氫酶缺乏者; 分子生物學; G6PD; Variant; SSCP; |
語 文 | 英文(English) |
中文摘要 | 以聚合鏈釀連鎖反應/單股核酸構形多形性分析(PCR/sscP),吾人探討97位(86位男嬰、11位女嬰)位於南臺灣中國人嬰幼兒葡萄糖-6-磷酸去氫酣(G6PD)缺乏者之分子生物學特性。經PcR/SScP反應後G6PD缺乏者,在exonZ、5、6及12於電泳上有明顯位置改變(Movement Shift)現象。而在exong則無此現象。進一步利用直接核酸定序以確定基因變異型,則在90位確定有基因變異之病人中,吾人共發現7種G6PD變異型,其中42.3% (41/97) 為核苷酸13760→T變異型,34.0 % (33/97) 為核苷酸1388G→A變異型,此二種變異型為最常見之G6PD變異型。其他G6PD變異型包括核苷酸95A→G變異型(5.2%) 核苷酸392G→T變異型(4.1%),核苷酸493A→G變異型 (3.1%)。而核苷酸371A→G (2.1%) 及核苷酸517C→G (2.1%) 為兩種吾人另新發現之二種G6PD變異型。本研究中仍然有7.2% (7/97) 之病例未能找到其基因變異處。而不同之G6PD變異型,其G6PD活性並未存有意義之差異(P>0.05)。由於有簡單迅速、且不需複雜儀器之特性,PcR/ssCP應可作為中國人或其他民族G6PD缺乏者分子生物學篩選方法。 |
英文摘要 | Using the polymerase chain reaction/single strand conformation polymorphism (PCR/SSCP), we studied the molecular characterization of 97 (86 male and 11 female) glucose-6-phosphate dehydrogenase (G6PD) deficient Chinese newborn babies and infants in southern Taiwan. Movement shifts were clearly seen in exon 2, 5, 6 and 12, respectively. No movement shift was seen in exon 9. Mutation confirmations were followed by direct sequencing. Using this approach we identified the molecular defect in 90 of the 97 above samples. Our results show a total of seven variants, the most common being at nucleotide (nt) 1376 mutatIon G-->T 42.3% (41/97) and at nt 1388 mutation G-->A 34.0% (33/97). The other mutation sites were at nuleotide 95 A-->G (5.2%), nuclèotide 392 G-->T (4.1%), nucleotide 493 A-->G (3.1%) and two new variants with mutation at nucleotide 371 A-->G (2.1%) and nucleotlde 519 C-->G (2.1%). Still 7.2% (7/97) remained unidentified. There was no significant difference in G6PD activity among the different mutations. Simple and fast, PCR/SSCP may be suitable for molecular screening for G6PD deficiency in Chinese and other people. |
本系統中英文摘要資訊取自各篇刊載內容。