Молекулярно-генетична діагностика мутацій гена FGFR3 при ахондроплазії та гіпохондроплазії

• Опубліковано в: : Фактори експериментальної еволюції організмів
• Дата: 2015
• Автори: Дмитрук, І.М., Макух, Г.В., Тиркус, М.Я., Шуварська, В.І., Маркевич, Н.В., Лялюк, О.В.
• Формат: Стаття
• Мова: Українська
• Опубліковано: Інститут молекулярної біології і генетики НАН України 2015
• Теми: Генетика людини та медична генетика
• Онлайн доступ: https://nasplib.isofts.kiev.ua/handle/123456789/177403
• Назва журналу: Digital Library of Periodicals of National Academy of Sciences of Ukraine
• Цитувати: Молекулярно-генетична діагностика мутацій гена FGFR3 при ахондроплазії та гіпохондроплазії / І.М. Дмитрук, Г.В. Макух, М.Я. Тиркус, В.І. Шуварська, Н.В. Маркевич, О.В. Лялюк // Фактори експериментальної еволюції організмів: Зб. наук. пр. — 2015. — Т. 16. — С. 197-200. — Бібліогр.: 11 назв. — укр.

Aims. The differential diagnosis of achondroplasia and hypochondroplasia in Ukraine is based on the typical clinical
 and radiologic features that limits accurate diagnosis and leads to many false-positive diagnoses when checked against
 a complete mutation search of the FGFR3 gene. Thereby, we outline the necessity of implementation molecular-genetic
 test of FGFR3 gene mutations. The implementation is necessary to carry out differential and prenatal diagnostic of
 achondroplasia and hypochondroplasia among Ukrainian population. Methods. The study included 62 patients with
 clinical things of achondroplasia or hypochondroplasia and 99 relatives including sibs and parents. The molecular-genetic
 analysis was performed by PCR (Polymerase Chain Reaction) and RFLP (Restriction Fragment Length Polymorphism)
 analysis. We optimized the time and temperature conditions and chose specifi c primers for revealing the c.1138G > A,
 c.1138G > C and p.Asn540Lys mutations of FGFR3 gene. Results. Mutation c.1138G > A was found at 21 (34 %)
 individuals aged from 5 months to 40 years old with obvious phenotypical features of achondroplasia of which 25 cases
 was sporadic. Additionally the mutation c.1138G > C was detected at 3 (5 %) probands. Major p.Asn540Lys mutation of
 the FGFR3 receptor was identifi ed at 3 (5 %) probands which causes hypochondroplasia. Conclusions. We concluded that
 93 % of mutations were sporadic because no mutations were found at relatives; meanwhile we found 2 (2 %) inheritable
 c.1138G > A and c.1138G > C mutations at both mother and son. Due to conducting of molecular-genetic diagnostics of
 FGFR3 mutations c.1138G > A, c.1138G > C and p.Asn540Lys diagnosis achondroplasia and hypochondroplasia were
 confi rmed at 27 (44 %) observed patients and extensive gene analysis are required for the other patients to search for rare
 FGFR3 rearrangements.
 Keywords: hypochondroplasia, achondroplasia, mutation, molecular-genetic diagnostics.