![生物醫學暨檢驗科學雜誌 生物醫學暨檢驗科學雜誌](../File/DC/Journal/1241.jpg) |
本站僅提供期刊文獻檢索。 【月旦知識庫】是否收錄該篇全文,敬請【登入】查詢為準。
最新【購點活動】
|
篇名 |
HLA 定序分型在異質性消失(LOH)時的解決方案
|
並列篇名 |
Strategy for Loss of Heterozygosity (LOH) in HLA Sequence-based Typing (SBT) |
作者 |
林俊瑛、張嘉玲 (Chia-Ling Chang) |
中文摘要 |
在多種腫瘤及白血病病人有可能發生HLA的異質性消失(loss of heterozygosity ; LOH),一位診斷為AML的女士,執行HLA定序分型以尋找適合的捐贈者。第一次送檢Blast:52.0%,HLA定序分型結果除HLA- DQB1是heterozygous外,其餘loci均為homozygous。因HLA- DQB1定序序列中,兩個型別訊號強度有差異,因此懷疑其餘homozygous loci發生LOH。第二次送檢Blast:1.0%,HLA定序分型結果除HLA-DRB1、DQB1是heterozygous外,此次HLA-A、B、C loci仍為homozygous。由父母的HLA分型結果發現,病人來自母親的HLA-A、B、C三個loci發生LOH。以針對母親HLA-A,B,C型別有特異性的引子(GSA;group specific primer)對病人檢體進行PCR擴增,再進行定序分析終於得到病人正確型別。因此建議臨床上,白血病病患執行HLA 定序,如分型結果有部分loci為homozygous,且heterozygous loci中,兩個型別訊號強度有差異時,應搭配親屬之HLA分型結果,以釐清分型究竟是homozygous或是發生LOH。
Loss of heterozygosity (LOH) in HLA is a well-known phenomenon in solid tumors and leukemiapatients. A woman diagnosed with acute myelomonocytic leukemia; executed HLA sequence-basedtyping (SBT) for finding an appropriate donor. In first detection, the peripheral blast cell was 52%and HLA SBT revealed homozygosity except HLA-DQB1 locus. We found signal strength showsdifference between two alleles in HLA-DQB1 sequence, so LOH in HLA might happen. In seconddetection, the peripheral blast cell was 1%. The homozygous results of HLA-A, -B, -C still reportedexcept HLA-DQB1 and –DRB1. However, HLA typing results of her parents indicated that sheindeed lost her maternal alleles of HLA-A, -B, and -C loci. We further used the HLA group specificprimers (GSA) for the maternal alleles, and finally demonstrated patient was heterozygous at allHLA loci. Therefore recommend, if the HLA-SBT results for leukemia patient appear homozygousin some loci, and signal strength has a difference between two alleles in heterozygous loci. It shouldcombine with the HLA-SBT data of relatives. To clarify the homozygous loci are true homozygosityor LOH. |
英文摘要 |
Loss of heterozygosity (LOH) in HLA is a well-known phenomenon in solid tumors and leukemiapatients. A woman diagnosed with acute myelomonocytic leukemia; executed HLA sequence-basedtyping (SBT) for finding an appropriate donor. In first detection, the peripheral blast cell was 52%and HLA SBT revealed homozygosity except HLA-DQB1 locus. We found signal strength showsdifference between two alleles in HLA-DQB1 sequence, so LOH in HLA might happen. In seconddetection, the peripheral blast cell was 1%. The homozygous results of HLA-A, -B, -C still reportedexcept HLA-DQB1 and –DRB1. However, HLA typing results of her parents indicated that sheindeed lost her maternal alleles of HLA-A, -B, and -C loci. We further used the HLA group specificprimers (GSA) for the maternal alleles, and finally demonstrated patient was heterozygous at allHLA loci. Therefore recommend, if the HLA-SBT results for leukemia patient appear homozygousin some loci, and signal strength has a difference between two alleles in heterozygous loci. It shouldcombine with the HLA-SBT data of relatives. To clarify the homozygous loci are true homozygosityor LOH. |
起訖頁 |
52-56 |
關鍵詞 |
loss of heterozygosity(LOH)、group specific primer(GSA)、locus specific primer(LSA) |
刊名 |
生物醫學暨檢驗科學雜誌 |
期數 |
201806 (30:2期) |
出版單位 |
台灣醫事檢驗學會
|
該期刊-上一篇 |
北部某區域醫院克雷伯氏肺炎桿菌碳青黴烯酶之分子流行病學分析 |
該期刊-下一篇 |
建立台灣區域人口血液凝固分子生物參考區間 |
|
|
新書閱讀![](https://www.angle.com.tw/images/more_black.gif)
最新影音![](https://www.angle.com.tw/images/more_black.gif)
優惠活動
|