Russian Journal of Genetics, volume 56, issue 6, pages 739-746
FISH Diagnostics of Chromosomal Translocation with the Technology of Synthesis of Locus-Specific DNA Probes Based on Long-Range PCR
Zhigalina D I
1
,
Skryabin N A
1
,
Vasilieva O Y
1
,
Lopatkina M E
1
,
Vasiliev S A
1
,
Sivokha V M
1
,
Belyaeva E O
1
,
Savchenko R R
1
,
Nazarenko L P
1
,
Lebedev I N
1
Publication type: Journal Article
Publication date: 2020-06-01
Journal:
Russian Journal of Genetics
Quartile SCImago
Q4
Quartile WOS
Q4
Impact factor: 0.6
ISSN: 10227954, 16083369
Genetics
Abstract
Detection of translocations in subtelomeric regions of chromosomes is a serious diagnostic problem, because they are difficult to determine by conventional cytogenetics with G banding. The aim of this work was the development of the technology of DNA probe synthesis for unique sequences of subtelomeric chromosome regions based on long-range PCR using the clinical case of determining the parental origin of unbalanced translocation between chromosomes 5 and 8. The unbalanced translocation der(5)t(5;8)(р15.33;q24.22) in a proband with physical, motor, intellectual, and speech development delay and in his sibling with speech and intellectual development delay as well, which was previously identified by array comparative genomic hybridization (aCGH), was confirmed by FISH. A balanced translocation 46,XX,t(5;8)(p15.33;q24.22) was detected in the mother’s karyotype using the created locus-specific DNA probe. This chromosome aberration was not detected by G banding of metaphase chromosomes. The father’s karyotype was normal according to FISH results. The method presented here makes it possible to create locus-specific DNA probes in a molecular cytogenetic laboratory using long-range PCR for the rapid diagnosis of cryptic chromosomal rearrangements.
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Citations by publishers
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Multidisciplinary Digital Publishing Institute (MDPI)
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2 publications, 40%
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1 publication, 20%
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1
2
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Zhigalina D. I. et al. FISH Diagnostics of Chromosomal Translocation with the Technology of Synthesis of Locus-Specific DNA Probes Based on Long-Range PCR // Russian Journal of Genetics. 2020. Vol. 56. No. 6. pp. 739-746.
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Zhigalina D. I., Skryabin N. A., Vasilieva O. Y., Lopatkina M. E., Vasiliev S. A., Sivokha V. M., Belyaeva E. O., Savchenko R. R., Nazarenko L. P., Lebedev I. N. FISH Diagnostics of Chromosomal Translocation with the Technology of Synthesis of Locus-Specific DNA Probes Based on Long-Range PCR // Russian Journal of Genetics. 2020. Vol. 56. No. 6. pp. 739-746.
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TY - JOUR
DO - 10.1134/s1022795420060150
UR - https://doi.org/10.1134%2Fs1022795420060150
TI - FISH Diagnostics of Chromosomal Translocation with the Technology of Synthesis of Locus-Specific DNA Probes Based on Long-Range PCR
T2 - Russian Journal of Genetics
AU - Zhigalina, D I
AU - Skryabin, N A
AU - Vasilieva, O Y
AU - Lopatkina, M E
AU - Vasiliev, S A
AU - Sivokha, V M
AU - Belyaeva, E O
AU - Savchenko, R R
AU - Nazarenko, L P
AU - Lebedev, I N
PY - 2020
DA - 2020/06/01 00:00:00
PB - Pleiades Publishing
SP - 739-746
IS - 6
VL - 56
SN - 1022-7954
SN - 1608-3369
ER -
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@article{2020_Zhigalina,
author = {D I Zhigalina and N A Skryabin and O Y Vasilieva and M E Lopatkina and S A Vasiliev and V M Sivokha and E O Belyaeva and R R Savchenko and L P Nazarenko and I N Lebedev},
title = {FISH Diagnostics of Chromosomal Translocation with the Technology of Synthesis of Locus-Specific DNA Probes Based on Long-Range PCR},
journal = {Russian Journal of Genetics},
year = {2020},
volume = {56},
publisher = {Pleiades Publishing},
month = {jun},
url = {https://doi.org/10.1134%2Fs1022795420060150},
number = {6},
pages = {739--746},
doi = {10.1134/s1022795420060150}
}
Cite this
MLA
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Zhigalina, D. I., et al. “FISH Diagnostics of Chromosomal Translocation with the Technology of Synthesis of Locus-Specific DNA Probes Based on Long-Range PCR.” Russian Journal of Genetics, vol. 56, no. 6, Jun. 2020, pp. 739-746. https://doi.org/10.1134%2Fs1022795420060150.