Aim:To establish a procedure for prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia (XL-HED)by mutation detection and linkage analysis and evaluate its feasibility. Methods: Blood samples of two members from one pedigree and amniotic fluid of male embryo were collected.
目的:探讨使用突变分析和连锁分析进行X-连锁无汗性外胚层发育不良(XLHED)产前诊断的方法。
参考来源 - XGold nanoparticles are unique tools for biomolecule detection and provide novel idea for gene mutation detection.
纳米金与DNA的相互作用为基因突变检测提供了新的思路。
参考来源 - 纳米金与DNA的相互作用及在人p53基因突变检测中的应用·2,447,543篇论文数据，部分数据来源于NoteExpress
Despite high mutation detection rate, many HBOC cases remain without identified cause.
尽管有很高的突变检出率，但是许多HBOC仍然没有可识别的原因。
Objective To study whether protein truncation test (PTT) is suitable for mutation detection in large size gene, such as ATM.
目的：研究蛋白质截短技术(ptt)在atm等大基因突变检测中的可行性。
Methods:The method for MBL point mutation detection(PCR-RFLP) was Established with self-designed primers according to MBL genomic sequence;
方法：根据MBL基因序列设计引物建立MBL基因点突变检测方法即PCR -RFLP ；
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