Evaluation of sex-specific gene expression in archived dried blood spots (DBS).
Evaluation of sex-specific gene expression in archived dried blood spots (DBS).
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DOI：
10.3390/ijms13089599
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发表时间：
2012
影响因子：
5.6
通讯作者：
Khoo SK
中科院分区：
文献类型：
--
作者：
Resau JH;Ho NT;Dykema K;Faber MS;Busik JV;Nickolov RZ;Furge KA;Paneth N;Jewell S;Khoo SK
美国所有州和许多其他国家都要求对新生儿进行可治疗的严重疾病筛查。筛查后，带有残留血液(整个斑点或部分斑点)的格思里卡片通常在许多设施的常温下储存。在流行病学和临床研究中，用于出生时分子研究的存档干血斑(DBS)的潜力是巨大的。然而，这也是具有挑战性的，因为DBS的分析物可能会因准备和储存条件而降解。我们之前报道了一种从血斑中获得全球RNA基因表达的改进方法。在这里，我们利用寡核苷酸芯片技术评估了性别特异基因在DBS中的表达及其保存。我们发现X失活特异性转录本(XIST)、赖氨酸特异性去甲基酶5D(KDM5D)(也称为Y上的精选cDNA，小鼠同源基因(SMCY))、未鉴定的LOC729444(LOC729444)和睾丸特异性转录物Y连锁21(TTTY21)在新生儿性别之间存在差异表达。我们的发现在未冷冻的DBS中保存了特定性状的RNA基因表达，证明了使用此类样本进行分子遗传图谱分析的技术可行性。随着数百万DBS的潜在研究，我们看到了利用新生儿分子基因表达来更好地了解围产期疾病的分子发病机制的新机会。
Screening newborns for treatable serious conditions is mandated in all US states and many other countries. After screening, Guthrie cards with residual blood (whole spots or portions of spots) are typically stored at ambient temperature in many facilities. The potential of archived dried blood spots (DBS) for at-birth molecular studies in epidemiological and clinical research is substantial. However, it is also challenging as analytes from DBS may be degraded due to preparation and storage conditions. We previously reported an improved assay for obtaining global RNA gene expression from blood spots. Here, we evaluated sex-specific gene expression and its preservation in DBS using oligonucleotide microarray technology. We found X inactivation-specific transcript (XIST), lysine-specific demethylase 5D (KDM5D) (also known as selected cDNA on Y, homolog of mouse (SMCY)), uncharacterized LOC729444 (LOC729444), and testis-specific transcript, Y-linked 21 (TTTY21) to be differentially-expressed by sex of the newborn. Our finding that trait-specific RNA gene expression is preserved in unfrozen DBS, demonstrates the technical feasibility of performing molecular genetic profiling using such samples. With millions of DBS potentially available for research, we see new opportunities in using newborn molecular gene expression to better understand molecular pathogenesis of perinatal diseases.
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影响因子：
3.5
作者：
AGULNIK, AI;MITCHELL, MJ;BISHOP, CE
通讯作者：
BISHOP, CE
DOI：
10.1111/j.2517-6161.1995.tb02031.x
发表时间：
1995-01-01
影响因子：
5.8
作者：
BENJAMINI, Y;HOCHBERG, Y
通讯作者：
HOCHBERG, Y
影响因子：
2.9
作者：
Hardin, Jill;Finnell, Richard H.;Shaw, Gary M.
通讯作者：
Shaw, Gary M.
影响因子：
3.1
作者：
De Crignis, Elisa;Re, Maria Carla;Gibellini, Davide
通讯作者：
Gibellini, Davide
影响因子：
--
作者：
Winkel BG;Hollegaard MV;Olesen MS;Svendsen JH;Haunsø S;Hougaard DM;Tfelt-Hansen J
通讯作者：
Tfelt-Hansen J