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Liu Y.,Dongguan Maternal and Child Health Hospital | Sun M.,Dongguan Maternal and Child Health Hospital | Zhao Y.,Dongguan Maternal and Child Health Hospital | Xie R.,Dongguan Maternal and Child Health Hospital | And 5 more authors.
Molecular and Cellular Probes | Year: 2015

Objectives: The aim of the study was to set up an alternative automatic molecular diagnostic method for deletional α-thalassaemia mutations without gel electrophoresis. Methods: Based on the sequence variation within the two Z boxes and melting curve analysis of dually labelled probes, a real-time PCR assay was developed and validated for the rapid detection of major α-genotypes (--SEA/αα, --SEA/-α3.7, --SEA/-α4.2, --SEA/--SEA, -α3.7/-α3.7 and -α4.2/-α4.2). Results: Samples with the -α3.7/-α3.7, -α4.2/-α4.2, --SEA/αα, --SEA/-α3.7, --SEA/-α4.2, and --SEA/--SEA genotypes could be clearly distinguished. The accuracy of this technique for these samples was 100% sensitivity and specificity. Conclusion: This technique is rapid and reliable, demonstrating feasibility for use in large-scale population screening and prenatal diagnosis of deletional Hb H disease and Hb Bart's hydrops fetalis. © 2015 Elsevier Ltd. Source

Liu Y.-H.,Southern Medical University | Xie R.-G.,Dongguan Maternal and Child Health Hospital | Zhang X.-Y.,Dongguan Maternal and Child Health Hospital | Wei S.-D.,Dongguan Maternal and Child Health Hospital | And 4 more authors.
Gene | Year: 2012

We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p12-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis was conducted on umbilical cord blood for a fetus accompanied with tricuspid regurgitation and orbital hypertelorism from a 27-year-old gravida 4, para 1 after sonography at gestation 35. weeks. The karyotype was unusual, with 46, XY, der (6), t (6;12) (p24; p12) mat. The pregnancy was terminated at 37 gestational weeks. The aborted fetus displayed dysmorphic features of a round flat face with prominent cheeks and high forehead, hypertelorism, short nose, broad and depressed nasal bridge, anteverted nares, deformed philtrum, open mouth, thin upper vermilion and broad everted lower lip, low-set ears and aural atresia, broad hands with simian creases, and a short neck. Fetal anatomy showed right artery catheter vagus, congenital cataract, no turbinate and external auditory canals. Through karyotype-phenotype analysis of this patient and a review of other reported cases, we believe this is a first report that expands the database of partial trisomy 12p, and is beneficial for future clinical genetic counseling. This study supports that phenotypic variability depends on the type and extent of the associated partial monosomy. © 2012 Elsevier B.V. Source

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