Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers
Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers
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DOI：
10.1002/ajmg.a.30470
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发表时间：
2005-06-01
影响因子：
2
通讯作者：
Zacchello, F
中科院分区：
文献类型：
--
作者：
Castellani, C;Picci, L;Zacchello, F
在实施囊性纤维化（CF）新生儿筛查后，免疫反应性胰蛋白酶原（IRT）升高且汗液氯化物水平正常的新生儿中杂合子的发生率很高。我们研究了正常IRT值与CF杂合性之间的关系：通过IRT测量对10,000名新生儿进行了CF筛查，并检测了40个CF突变；研究人员将检测到的 294 名携带者与相同基因检测呈阴性的新生儿配对，并对两组的 IRT 水平进行比较。杂合子的 IRT 水平高于对照（平均 35.32 vs. 27.58 mu g/L，P < 0.001）。即使在正常胰蛋白酶原范围内，CF 携带者的可能性也会随着新生儿 IRT 浓度的增加而增加。 (c) 2005 年 Wiley-Liss, Inc.
Following cystic fibrosis (CF) neonatal screening implementation, a high frequency of heterozygotes has been reported among neonates with elevated immunoreactive trypsinogen (IRT) and normal sweat chloride levels. We studied the relationship between normal IRT values and CF heterozygosity: 10,000 neonates were screened for CF by IRT measurement and tested for 40 CF mutations; the 294 carriers detected were coupled with newborns negative to the same genetic testing, and the two groups' IRT levels compared. Heterozygotes had higher IRT levels than their controls (mean 35.32 vs. 27.58 mu g/L, P < 0.001). Even within normal trypsinogen range, the probability of being a CF carrier increases with neonatal IRT concentration. (c) 2005 Wiley-Liss, Inc.