Abstract

Objective To establish a method of multicolor melting curve analysis for the prenatal diagnosis of β thalassemia. Methods Methodology establishment. A total of 95 cases, including 9 fetal villi samples(10-13 weeks)and 86 amniotic fluid samples(18-24 weeks)were collected by Center for Prenatal Diagnosis of Shenzhen Maternity and Child Healthcare Hospital between January 2014 and December 2014. A double-blind test was done to detect the mutations of beta globin gene by means of reverse dot (RDB) blot and multicolor melting curve analysis(MMCA). The consistency of the two methods is compared. Results The results of 93 cases detected by MMCA and RDB are completely consistent. The results of the 2 cases detected by MMCA after correction are the same as the results detected by RDB. Finally, the coincidence rate of the result was 100%. Conclusion MMCA can be applied to the prenatal diagnosis of β thalassemia as an effective supplement to RDB.(Chin J Lab Med, 2016, 39: 192-196) Key words: beta-Thalassemia; Prenatal diagnosis; Reverse transcriptase polymerase chain reaction; Nucleic Acid Hybridization

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