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Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine

Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine

Charcot-Marie-Tooth neuropathy (CMT) is one of the most common hereditary disorders, affecting 1 : 2500 individuals. The major mutation – microduplication of 1.4 megabases in 17р11.2 region, which is responsible for 68–90 % of cases of CMT1, results in CMT1A. In the present article we provide the po...

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Main Authors: Hryshchenko, N.V., Kravchenko, S.A., Livshits, L.A.
Format: Article
Language:English
Published: Інститут клітинної біології та генетичної інженерії НАН України 2005
Series:Цитология и генетика
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Оригинальные работы
Online Access:http://dspace.nbuv.gov.ua/handle/123456789/126776
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spelling irk-123456789-1267762017-12-03T03:02:59Z Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine Hryshchenko, N.V. Kravchenko, S.A. Livshits, L.A. Оригинальные работы Charcot-Marie-Tooth neuropathy (CMT) is one of the most common hereditary disorders, affecting 1 : 2500 individuals. The major mutation – microduplication of 1.4 megabases in 17р11.2 region, which is responsible for 68–90 % of cases of CMT1, results in CMT1A. In the present article we provide the population genetic study in 52 unrelated non-CMT volunteers from population of Ukraine in three STRs (D17S921, D17S1358 and D17S122) from the 17p11.2 chromosomal region to determine their ability for the CMT1A-duplication detection using STR-PCR method in Ukraine. The informativity for the CMT1A detection in current use STR panel is calculated to be 93,6 %. It has been shown that current use STR panel analysis is important for CMT1A duplication detection, early differential diagnosis of CMT including prenatal diagnosis and genetic consulting in high risk families. Болезнь Шарко-Мари-Тус (ШМТ) – одно из наиболее распространенных наследственных заболеваний с частотой 1 : 2500. Дупликация 1,4 т.п.н. в хромосомной области 17р11.2 является мажорной мутацией (68–90 % ШМТ1) и приводит к развитию ШМТ демиелинового типа 1А (ШМТ1А). В настоящей работе нами представлен популяционно-генетический анализ (52 неродственных донора из Украины) трех полиморфных локусов (D17S921, D17S1358 та D17S122) из хромосомной области 17р11.2 для выяснения информативности их использования при диагностике ШМТ1А-дупликации методом STR-ПЦР анализа в Украине. Установлено, что информативность использования трех исследуемых локусов для выявления ШМТ1А-дупликации у больных ШМТ из Украины составляет 93,6 %. Полученные данные свидетельствуют о том, что панель из трех исследуемых локусов может использоваться для ранней дифференциальной диагностики ШМТ, включая пренатальную, для анализа ШМТ1А-дупликации и генетического консультирования в семьях высокого риска данного заболевания. 2005 Article Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine / N.V. Hryshchenko, S.A. Kravchenko, L.A. Livshits // Цитология и генетика. — 2005. — Т. 39, № 5. — С. 56-61. — Бібліогр.: 23 назв. — англ. 0564-3783 http://dspace.nbuv.gov.ua/handle/123456789/126776 en Цитология и генетика Інститут клітинної біології та генетичної інженерії НАН України
institution Digital Library of Periodicals of National Academy of Sciences of Ukraine
collection DSpace DC
language English
topic Оригинальные работы
Оригинальные работы
spellingShingle Оригинальные работы
Оригинальные работы
Hryshchenko, N.V.
Kravchenko, S.A.
Livshits, L.A.
Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine
Цитология и генетика
description Charcot-Marie-Tooth neuropathy (CMT) is one of the most common hereditary disorders, affecting 1 : 2500 individuals. The major mutation – microduplication of 1.4 megabases in 17р11.2 region, which is responsible for 68–90 % of cases of CMT1, results in CMT1A. In the present article we provide the population genetic study in 52 unrelated non-CMT volunteers from population of Ukraine in three STRs (D17S921, D17S1358 and D17S122) from the 17p11.2 chromosomal region to determine their ability for the CMT1A-duplication detection using STR-PCR method in Ukraine. The informativity for the CMT1A detection in current use STR panel is calculated to be 93,6 %. It has been shown that current use STR panel analysis is important for CMT1A duplication detection, early differential diagnosis of CMT including prenatal diagnosis and genetic consulting in high risk families.
format Article
author Hryshchenko, N.V.
Kravchenko, S.A.
Livshits, L.A.
author_facet Hryshchenko, N.V.
Kravchenko, S.A.
Livshits, L.A.
author_sort Hryshchenko, N.V.
title Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine
title_short Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine
title_full Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine
title_fullStr Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine
title_full_unstemmed Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine
title_sort polymorphic short tandem repeats for pcr-based diagnosis of the charcot-marie-tooth 1a duplication in ukraine
publisher Інститут клітинної біології та генетичної інженерії НАН України
publishDate 2005
topic_facet Оригинальные работы
url http://dspace.nbuv.gov.ua/handle/123456789/126776
citation_txt Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine / N.V. Hryshchenko, S.A. Kravchenko, L.A. Livshits // Цитология и генетика. — 2005. — Т. 39, № 5. — С. 56-61. — Бібліогр.: 23 назв. — англ.
series Цитология и генетика
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AT kravchenkosa polymorphicshorttandemrepeatsforpcrbaseddiagnosisofthecharcotmarietooth1aduplicationinukraine
AT livshitsla polymorphicshorttandemrepeatsforpcrbaseddiagnosisofthecharcotmarietooth1aduplicationinukraine
first_indexed 2023-10-18T20:51:35Z
last_indexed 2023-10-18T20:51:35Z
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