【求助】请教什么是allele specific expression (ASE) assay
丁香园论坛
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今日在阅读文献时见到了“allele specific expression (ASE) assay”，翻译成中文是否应该是“等位基因表达试验”？我以前从来没见过这种试验，请教高手以下问题：
1、这种检验方法的由来？
2、检验的机理是什么？
3、这种检验方法的主要用途？
还有，这段话中Conclusion: By using the largest cohorts analysed to date, as well as a standardized phenotype definition and study design, no association of TLR9 genetic variants with severe malaria was found. This analysis considered all common variants in the region, but it is remains possible that there are rare variants with association signals. This report also shows that TLR9 expression is potentially modulated through cis-regulatory variants, which may lead to differential inflammatory responses to infection between individuals.划线部分的意思是什么？
谢谢！
1、这种检验方法的由来？
2、检验的机理是什么？
3、这种检验方法的主要用途？
还有，这段话中Conclusion: By using the largest cohorts analysed to date, as well as a standardized phenotype definition and study design, no association of TLR9 genetic variants with severe malaria was found. This analysis considered all common variants in the region, but it is remains possible that there are rare variants with association signals. This report also shows that TLR9 expression is potentially modulated through cis-regulatory variants, which may lead to differential inflammatory responses to infection between individuals.划线部分的意思是什么？
谢谢！
人的常染色体基因有两个拷贝，一个父源的，一个母源的，叫等位基因。一般的话，如果两个拷贝都表达，有可能父源的A基因和母源的的A基因表达不一样。特别是在有杂合突变（点突变，indels，CNV）情况下，表达更是有可能受影响。所以以这个基因外显子或者UTR区的SNP作为标志，检测两个SNP的表达强度。
结论：TLR9的表达受到顺式变异的调控（可能是调控区的变异，这种变异只存在于某一亲本的调控序列里，从而影响等位基因的表达），可能造成个体间炎症反应的不同。
结论：TLR9的表达受到顺式变异的调控（可能是调控区的变异，这种变异只存在于某一亲本的调控序列里，从而影响等位基因的表达），可能造成个体间炎症反应的不同。
等位基因特异性表达检测技术可以用于基因表达强度的测定，我这儿有一篇参考文献，但是这样一个临床儿科医生读起来还真是费力，各位能否读一下我提供的参考文献后再详细地叙述一下这方面的内容？
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