Source:http://linkedlifedata.com/resource/pubmed/id/18837940
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:dateCreated |
2008-10-7
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pubmed:abstractText |
Analysis of fetal DNA in maternal plasma has recently been introduced as a new method for noninvasive prenatal diagnosis. In the majority of cases, the Y chromosome-specific sequences are commonly used as a fetus-specific marker with a high risk of false-negative cases. We attempted to develop a sensitive and reliable X chromosome short tandem repeat (STR) multiplex PCR amplification system that is suitable for the amplification of short-sized templates of free fetal DNA. Because of specific characteristics of fetal DNA in maternal plasma, cell-free fetal DNA is smaller than corresponding maternal DNA, and so we selected 10 X-STR loci in which the allele size was 250 bp. In addition, fetal sex was also investigated using the amelogenin gene in the same multiplex assay. Twenty-six women were enrolled in the study. Eight of 26 total fetuses analyzed were male and 18 were female. In the whole sample, X-STRs were informative with a mean of 4.84 +/- 1.43. A mean of 2.67 +/- 1.28 X-STR markers per sample (range 1-5) of paternally inherited fetal alleles were detected in pregnant women carrying a female fetus. In all cases, blind determination of fetal sex by means of the identification of amelogenin and X-STR markers was confirmed by fetal karyotyping. This study showed that this noninvasive technique is a reliable and accurate tool to investigate free fetal DNA in pregnancies within the first trimester and could be widely used in clinical research and diagnosis.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1749-6632
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
1137
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
148-56
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:18837940-Adult,
pubmed-meshheading:18837940-Chromosomes, Human, X,
pubmed-meshheading:18837940-Female,
pubmed-meshheading:18837940-Fetus,
pubmed-meshheading:18837940-Genetic Markers,
pubmed-meshheading:18837940-Genotype,
pubmed-meshheading:18837940-Humans,
pubmed-meshheading:18837940-Male,
pubmed-meshheading:18837940-Microsatellite Repeats,
pubmed-meshheading:18837940-Pregnancy,
pubmed-meshheading:18837940-Prenatal Diagnosis,
pubmed-meshheading:18837940-Reproducibility of Results,
pubmed-meshheading:18837940-Sensitivity and Specificity,
pubmed-meshheading:18837940-Sex Determination Analysis
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pubmed:year |
2008
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pubmed:articleTitle |
Fetal sex identification in maternal plasma by means of short tandem repeats on chromosome x.
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pubmed:affiliation |
Unità di Aterosclerosi e Trombosi, S. Giovanni Rotondo, Foggia, Italy. g.vecchione@operapadrepio.it
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pubmed:publicationType |
Journal Article,
Evaluation Studies
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