使用学院小组进行囊性纤维化筛查：平台比较及从前20000个样本中获得的经验教训。
Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.
作者信息
Strom Charles M, Huang Donghui, Buller Arlene, Redman Joy, Crossley Beryl, Anderson Ben, Entwistle Tom, Sun Weimin
机构信息
Molecular Genetics Laboratory, Quest Diagnostics Nichols Institute, San Juan Capistrano, California.
出版信息
Genet Med. 2002 Jul-Aug;4(4):289-96. doi: 10.1097/00125817-200207000-00007.
PURPOSE
To determine the accuracy of two commercially available kits for cystic fibrosis (CF) genotyping and determine allele frequencies for the ACMG/ACOG recommended mutations.
METHODS
A total of 1,040 consecutive analyses using Roche CF Gold Strips and the ABI CF Genotyper were performed. Subsequently we performed analyses of 20,103 samples.
RESULTS
Both kits accurately determined CF genotypes. The I148T mutation was found >100 times more frequently in carrier screening than in CF patients. Asymptomatic patients were identified who are compound heterozygotes for delta F508 and I148T. Four of 13 patients heterozygous for delta F508 and the IVS8-5T polymorphism had some symptoms of CF.
CONCLUSION
Accurate and timely analysis can be performed for the ACMG CF panel. I148T is a low penetrance CF allele.
目的
确定两种市售囊性纤维化（CF）基因分型试剂盒的准确性，并确定美国医学遗传学与基因组学学会（ACMG）/美国妇产科医师学会（ACOG）推荐突变的等位基因频率。
方法
使用罗氏CF金标试纸条和ABI CF基因分型仪进行了总共1040次连续分析。随后我们对20103个样本进行了分析。
结果
两种试剂盒均能准确确定CF基因型。在携带者筛查中发现I148T突变的频率比在CF患者中高100倍以上。鉴定出无症状患者为ΔF508和I148T的复合杂合子。13例ΔF508和IVS8-5T多态性杂合的患者中有4例有CF的一些症状。
结论
可对ACMG CF检测板进行准确、及时的分析。I148T是一种低外显率的CF等位基因。
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