A Multiplex Quantitative Fluorescent PCR Test for Prenatal Diagnosis of Hb Barts Hydrops Fetalis
نویسندگان
چکیده
منابع مشابه
A multiplex quantitative fluorescent PCR test for prenatal diagnosis of Hb Barts hydrops fetalis.
tion, which removes both the 1 and 2 genes from 1 allele, leaving only 2 functional genes. This finding explains the comparatively high expression level (40%) of the variant chain. In an alignment of 449 globin sequences from different species, 91 is absolutely conserved as leucine, and this extraordinary level of conservation suggests an important functional role. X-ray structural analyses sho...
متن کاملPrenatal Diagnosis of Hb H Hydrops Fetalis Caused By Haemoglobin Adana
α-Thalassaemia is the most common inherited disorder of Haemoglobin (Hb) production in southeast Asia, resulting from deficient synthesis of the α-globin chain component of the haemoglobin molecule due to deletion or inactivation of one or more of the normal four alpha-chain genes. The severity of the condition depends on the number of genes inactivated. The severest form is Hb Barts hydrops fe...
متن کاملSimplified Preimplantation Genetic Diagnosis of Common Determinants of Hemoglobin Bart’s Hydrops Fetalis Syndrome Using a Multiplex- Microsatellite PCR Assay
The high incidence of double-gene deletions in α-thalassemia increases the risk of having pregnancies with homozygous α0-thalassemia, the cause of the lethal hemoglobin (Hb) Bart’s hydrops fetalis syndrome. Preimplantation genetic diagnosis (PGD) has played an important role in preventing such cases. However, current gap-PCR based PGD protocol for deletional α-thalassemia required specific prim...
متن کاملSimplified PGD of common determinants of haemoglobin Bart's hydrops fetalis syndrome using multiplex-microsatellite PCR.
The high incidence of double-gene deletions in α-thalassaemia increases the risk of having pregnancies with homozygous α(0)-thalassaemia, the cause of the lethal haemoglobin (Hb) Bart's hydrops fetalis syndrome. Preimplantation genetic diagnosis (PGD) has played an important role in preventing such cases. However, the current gap-PCR based PGD protocol for deletional α-thalassaemia requires spe...
متن کاملMicrosatellite markers within --SEA breakpoints for prenatal diagnosis of HbBarts hydrops fetalis.
BACKGROUND We sought to develop a rapid prenatal diagnostic test for simultaneous detection of HbBarts hydrops fetalis and exclusion of maternal contamination. METHODS We developed a multiplex quantitative fluorescent PCR (QF-PCR) test that detects the presence/ absence of 2 microsatellite markers (16PTEL05/16PTEL06) located within breakpoints of the Southeast Asia ((-SEA)) deletion. HbBarts ...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2007
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2007.085704