Whole Blood PCR for Rapid Screening of α0-Thalassemia

被引：2
作者：
Wichian, Phongsathorn [1 ,2 ]
Yamsri, Supawadee [2 ]
Sanchaisuriya, Kanokwan [2 ]
Fucharoen, Goonnapa [2 ]
Fucharoen, Supan [2 ]
机构：
[1] Khon Kaen Univ, Fac Associated Med Sci, Master Sci Program Med Sci, Khon Kaen, Thailand
[2] Khon Kaen Univ, Fac Associated Med Sci, Med Diagnost Labs, Ctr Res & Dev, Khon Kaen 40002, Thailand
来源：
ANNALS OF CLINICAL AND LABORATORY SCIENCE | 2018年 / 48卷 / 02期
关键词：
Direct whole blood PCR; alpha(0)-thalassemia; Hemoglobin Bart's hydrops fetalis; POLYMERASE-CHAIN-REACTION; IMMUNOCHROMATOGRAPHIC STRIP ASSAY; SOUTHEAST-ASIAN POPULATIONS; NUCLEIC-ACID AMPLIFICATION; SINGLE REFERRAL CENTER; NORTHEAST THAILAND; LARGE COHORT; THALASSEMIA; HEMOGLOBINOPATHIES; HETEROGENEITY;
D O I：
暂无
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
Hemoglobin Bart's hydrops fetalis (homozygous alpha(0)-thalassemia) is the most severe form of thalassemia in the Southeast Asian population. Fetuses with this disorder almost always die in utero or shortly after birth. Screening of alpha(0)-thalassemia carrier is therefore crucial. Currently, diagnosis of alpha(0)-thalassemia genes is done by DNA-based analysis which relies on DNA extraction. We have developed a simple screening format based on whole blood PCR assay. The method was validated on 198 specimens and the results show 100% concordance with a conventional gap-PCR on DNA specimens. The protocol could also be applied to amniotic fluid specimens in prenatal diagnostic testing. The assay developed should facilitate carrier screening and prenatal diagnosis of Hb Bart's hyd raps fetalis syndrome in the region.
引用
收藏
页码：231 / 235
页数：5
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