Cystic fibrosis screening using the College panel: Platform comparison and lessons learned from the first 20,000 samples

被引：42

作者：

Strom, CM ^{[1
]}

Huang, DH ^{[1
]}

Buller, A ^{[1
]}

Redman, J ^{[1
]}

Crossley, B ^{[1
]}

Anderson, B ^{[1
]}

Entwistle, T ^{[1
]}

Sun, WM ^{[1
]}

机构：

[1] Quest Diagnost Nichols Inst, Genet Mol Lab, San Juan Capistrano, CA 92690 USA

来源：

GENETICS IN MEDICINE | 2002年 / 4卷 / 04期

关键词：

cystic fibrosis; carrier screening; population screening; allele frequencies;

D O I：

10.1097/00125817-200207000-00007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 \148T 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 1148T. 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. 1148T is a low penetrance CF allele.

引用

页码：289 / 296

页数：8

共 12 条

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