Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of β-thalassemia: A feasibility study in southern Chinese

被引:22
作者
Chan, Kaimin [1 ]
Yam, Irene [1 ]
Leung, K. Y. [2 ]
Tang, Mary [2 ]
Chan, T. K. [1 ]
Chan, Vivian [1 ]
机构
[1] Queen Mary Hosp, Univ Dept Med, Hong Kong, Hong Kong, Peoples R China
[2] Queen Mary Hosp, Dept Obstet & Gynaecol, Hong Kong, Hong Kong, Peoples R China
关键词
Non-invasive prenatal diagnosis; Paternal mutation; Informative SNP; Maternal-plasma DNA; FETAL DNA; MUTATIONS; EXTENSION; DISEASES; CELLS;
D O I
10.1016/j.ejogrb.2010.02.016
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Objective: To evaluate in maternal plasma, the efficacy of detecting the paternal beta-gene mutation and informative single nucleotide polymorphisms (SNPs) linked to the paternal-mutant or -normal allele in non-invasive prenatal diagnosis (NIPND). Study design: In 20 at-risk pregnancies, using the allele-specific arrayed primer extension (AS-APEX) technology of the previously published "Thalassemia" array, cyanine-5-deoxycytosine triphosphate (Cy5-dCTP) was incorporated into the extended strands to matched PCR-amplified maternal plasma DNA templates, to detect both the paternal beta-gene mutation and informative paternal SNPs. Results: Sensitivity experiment showed that 5 pg DNA as starting template gave detectable signals on the array. In 13 cases (65%), the paternal-derived beta-gene mutation and/or informative mutant-associated SNP were detected. A subsequent invasive procedure was required to determine if the fetus had a beta-thalassemia (thal) major or minor genotype. In 3 cases (15%), absence of the paternal mutant or mutant-associated SNP excluded a beta-thal major fetus; while in 4 cases (20%), this approach was non-discriminative as both parents carry the same mutation without any informative SNP. Conclusion: This approach was useful in 16 out of 20 (80%) pregnancies at risk for beta-thal in southern Chinese. 2010 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码:28 / 33
页数:6
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