Application of Natural and Amplification-Created Restriction Sites in Prenatal and Preimplantation Diagnosis of Beta-Thalassemia

我們利用自然的或增殖後產生的內切酶人工切點的方法來做台灣地區乙型地中海貧血之早期產前及胚胎著床前診斷。我們設計變異的引子來偵測中國人已知的11種突變在特定的內切酶作用於聚合酶鏈鎖反應增殖後的產物後即可確定診，其結果經直接定序法進一步證實其正確性。我們利用此方法做了9例斗產前診斷及31個3細胞體的胚胎，結果顯示我們所建立的方法是相當簡單、精確而快速可靠的。這樣的原則也可用於其他已知突變基因的產前或著床前的基因診斷。

關鍵字

無資料

並列摘要

We attempted the strategy of natural and amplification-created restriction sites for early prenatal and preimplantation diagnosis of Chinese beta-thalassmia. Mutagenesis primers were designed for 11 mutations reported for the Chinese population. The diagnosis was established after polymerase chain reaction and digestion of products by specific enzymes. The results were confirmed by direct sequencing of enzymatically amplified double-stranded DNA. The beta-globin gene was amplified from triploid embryos and isolated blastomeres using mismatched primers. The mutant and normal alleles can be distinguished clearly by this new method. Early prenatal diagnosis was successfully achieved in 9 cases. The beta-globin gene was successfully amplified from single blastomeres and tripronuclear embryos with mismatched primers. Natural and amplificationcreated restriction sites are a reliable method for rapid prenatal diagnosis of beta-thala-ssemia. Furthermore, the strategy provides a possible approach for the preimplantation diagnosis of beta-thalassemia.

並列關鍵字

amplification-created restriction site ； prenatal diagnosis ； preimplantation diagnosis

國際替代計量

Application of Natural and Amplification-Created Restriction Sites in Prenatal and Preimplantation Diagnosis of Beta-Thalassemia

全文下載

主題瀏覽