Microsatellite Markers within —SEA Breakpoints for Prenatal Diagnosis of HbBarts Hydrops Fetalis
نویسندگان
چکیده
منابع مشابه
Microsatellite 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 ...
متن کاملA 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...
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Parvovirus B19 can be transmitted transplacentally from the infected mother to the fetus during pregnancy, and hydrops fetalis, abortion, or stillbirth can result. In our study we explored the use of chemiluminescence in situ hybridization to detect B19 DNA on cord blood cells, amniotic fluid cells, and pleuric fluid cells from several cases of hydrops fetalis. B19 DNA was detected by using dig...
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These 2 cases provide additional examples of HUS occurring in sibs after a long interval. The family resided in New York City, which is not considered as an endemic area for HUS, and the clinical course of the disease in both infants was almost identical, culminating in early death. The aetiology of HUS may indeed be multiple, and the genetic basis for a significant proportion of cases does not...
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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...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2007
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2006.075085