頁籤選單縮合
題 名 | Mutation Analysis of Human LEFTY A and LEFTY B Genes in Children with Ivemark Syndrome=Ivemark症候群病童的LEFTY A和LEFTY B基因突變分析 |
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作 者 | 陳汶吉; 蔡輔仁; 鄔哲源; 施怡如; 吳錫金; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 41:5 民89.09-10 |
頁 次 | 頁259-262+284 |
分類號 | 417.107 |
關鍵詞 | Ivemark症候群; 左右不對稱; Ivemark syndrome; LEFTY A; LEFTY B; Lefty-1; Left-right asymmetry; |
語 文 | 英文(English) |
中文摘要 | 左右不對稱不正常發育的負責基因已經尋找很久了,但是都沒有確定的結果,最近有兩個老鼠lefty-1基因的人類同源基因LEFTY A和LEFTY B被報告可能與左右不對稱不正常發育有關,但是在126位病人中只有找到兩個突變。本文共收集十位左右不對稱不正常發育Ivemark症候群的病童,利用單股結構多形性的分析找出LEFTY A和LEFTY B的不正常帶,再做直接堿基序列的分析,但是並無發現有改變的現象。本文指出這些病人的左右不對稱不正常發育可能不是由此基因突變所致,因此還要尋找其他可能的致病基因。 |
英文摘要 | The search for genes responsible for the abnormal development of the left-right (L/R) asymmetry has been conducted but no definite results have been reported. Recently, two human homologus mouse lefty I genes, LEFTY A and LEFTY B, were analyzed for mutations in patients with the LIR anomalies. However, only two mutations were found in a survey of 126 patients. We collected genomic DNA from 10 children with Ivemark syndrome, a disease with anomalies in LIR asymmetry. Mutation analysis of LEFTY A and LEFTY B genes using single strand conformation polymorphism and direct sequencing was performed, but no mutations were found. This indicates that the L/R asymmetry anomaly in lvemark syndrome may not be caused by the mutation of LEFTY A and LEFTY B genes. Other genes responsible for the anomalies of L/R asymmetry should be further investigated. |
本系統中英文摘要資訊取自各篇刊載內容。