Accuracy of the point‐of‐care coagulometer CoaguChek XS in the hands of patients
Accuracy of the point‐of‐care coagulometer CoaguChek XS in the hands of patients
复制标题
患者手中的护理点凝血计 CoaguChek XS 的准确性
DOI：
10.1111/jth.12050
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发表时间：
2013
影响因子：
10.4
通讯作者：
W. Wuillemin
中科院分区：
文献类型：
--
作者：
Michael Nagler;P. Raddatz;Pirmin Schmid;Lucas M. Bachmann;W. Wuillemin
根据生物信息学分析，分析定位于富含重复元件的染色体区域，而没有参考基因，并且不包括重组的INT 1H-2序列。因此，一个新的重排的序列侧翼重组int 1h-2重复，不能检测所使用的PCR方法，推测发生。用于分子HA诊断的标准筛选方法不设想分析复杂的基因组重排，如在我们的情况下所描述的。事实上，aCGH筛查突出了一个意想不到的基因外缺失，否则未显示，允许更详细和准确的基因分型的病人和他的家庭成员。然而，在HA分子诊断的有限前景下，异常inv 1的标准检测，结合MLPA，导致在患者亲属中正确识别携带者，证实作为携带者和产前诊断的适当、可靠和快速的技术策略。
analysis is localized to a chromosomal region rich in repetitive elements with no reference genes, according to the bioinformatic analysis, and does not include the int1h-2 sequence recombined. Therefore, a new rearrangement of sequences flanking the recombined int1h-2 repeat, not detectable by the PCR method used, presumably occurred. Standard screening methods for molecular HA diagnostics do not envisage the analysis of complex genomic rearrangements, like that described in our case. Indeed, aCGH screening highlighted an unexpected extragenic deletion, otherwise unrevealed, allowing a more detailed and accurate genotyping of the patient and his family members. Nevertheless, in the limited perspective of HA molecular diagnosis, standard detection of abnormal inv1, combined with MLPA, led to a correct carrier identification in the patient s relatives, confirming as an appropriate, reliable and fast technical strategy for carrier and prenatal diagnosis.