The Short Tandem Repeat Loci hTPO, THO1 and FGA

Pöltl, Roger; Luckenbach, C.; Hixson, James E.; Ritter, H.

doi:10.1159/000022823

Cited by 5 publications

(4 citation statements)

References 15 publications

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“…All the polymorphic loci used were chosen because of their high heterozygosity in the Greek population or in Caucasians generally, if no data were available specifically for Greeks (Peake et al, 1990;Budowle et al, 1991;Deka et al, 1992Deka et al, , 1994Edwards et al, 1992;Brinkmann et al, 1996;Hatzaki, 1997;Pö ltl et al, 1998). The heterozygosity range of the loci is shown in Table 2.…”

Section: Methodsmentioning

confidence: 99%

“…Electrophoresis was performed in a 2% (3 : 1) nusieve-agarose gel for the 3k-HVR/APO B and 3% (3 : 1) nusieve-agarose gel for the D1S80 locus, at (1998) 120 V for 1-2 hours. The amplification of the region with the tetranucleotide repeat within the intron 40 of the von Willebrand factor gene (VNTRI of vWf) and the tetranucleotide repeat of the HumTHO1 locus (THO1), was performed as previously described (Peake et al, 1990;Pö ltl et al, 1998). Electrophoresis was performed in a PAGE gel (16 cm high), at 170 V for 4 hours (6% for the THO1 locus and 8% for the VNTRI of the vWf gene).…”

Section: Methodsmentioning

confidence: 99%

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A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

et al. 2002

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The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: beta-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3'-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

et al. 2002

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“…DNA, 1-6 bp 1 6-10 Kbp (Olroyd et al, 1995) 10-300 bp (Koch et al 1989;Hamada & Kakunaga, 1992), bp (Poltl et al, 1998).…”

Section: 12 Dnamentioning

confidence: 99%

“…( Buscemi et al, 1995;Hochmeister et al, 1995;Poltl et al, 1998) (Phillips et al, 1994;Brinkmann et al, 1996). , (Pai et al, 1994) (Hammond et al, 1994Micka et al, 1996).…”

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