СТ

С. Танас

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ВЗ

В. Залетаев

V. V. Strelnikov

Research Centre for Medical Genetics

A. I. Alekseeva

Research Institute of Human Morphology

В. Жоржоладзе

О. Карандашева

Л. Шеремет

А. Пудова

B. N. Kuznetsova

Vavilov Institute of General Genetics

ВП

В. Прозоренко

B A Kuznetsova

Research Institute of General Pathology and Pathophysiology, the Russian Academy of Medical Sciences

Cooperative Institutions

Sechenov University

Research Centre for Medical Genetics

Research Institute of Medical Genetics of Russian Academy of Medical Sciences

Research Institute of Human Morphology

Burdenko Neurosurgery Institute

Institute of Higher Nervous Activity and Neurophysiology

Ulyanovsk Regional Clinical Hospital

Moscow Engineering Physics Institute

Chelyabinsk Regional Clinical Oncology Center

Institute of Gene Biology

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SEMA6B — КАНДИДАТ НА РОЛЬ ГЕНА СУПРЕССОРА ОПУХОЛЕВОГО РОСТА В КРИТИЧЕСКОМ ХРОМОСОМНОМ РАЙОНЕ 19Р13.3

Медицинская генетика (2015)

B. N. Kuznetsova А. Пудова С. Танас В. Залетаев V. V. Strelnikov

Numerous studies indicate an extremely high rate of loss of heterozygosity on the short arm of chromosome 19, in the chromosomal segment 19p13.3, for different types of neoplasia: coion, cervical, breast cancers, myeloid leukemia. High rates of 19p13.3 loss of heterozygosity suggest that it contains one or more tumor suppressor genes. Our study of molecular pathology of the SEMA6B gene located in a critical area in breast cancer samples reveals features characteristic of the tumor suppressor gene. The frequency of abnormal methylation of the 5' region of the gene and the rate of loss of heterozygosity in breast cancer samples equal correspondingly 38% and 50%. A germinal mutation in an evolutionarily conserved region of the SEMA6B gene was detected in one of the breast cancer patients.

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Мутации криптических сайтов сплайсинга в некодирующих областях гена ABCA4 при болезни Штаргардта

Медицинская генетика (2016)

О. Карандашева В. Жоржоладзе Л. Шеремет B A Kuznetsova С. Танас

Background. Mutations in the ABCA4 gene cause Stargardt disease and other blinding autosomal recessive retinal disorders. However, sequencing of the complete coding sequence in patients with clinical features of Stargardt disease sometimes fails to detect both mutations required to cause the disease. It has previously been hypothesized that mutations near rare alternate splice junctions in ABCA4 might cause disease by increasing the probability of mis-splicing at these sites. Deep next-generation sequencing of RNA extracted from human donor eyes revealed 15 alternate exons that are weakly expressed in normal human retina. Cryptic intronic splice sites, activation of which by mutations might lead to the formation of ABCA4 disease causing alleles, have been identified. Objective. To analyze the cryptic splice sites in the noncoding regions of the ABCA4 gene in Russian patients with Stargardt disease. Material and methods. High throughput parallel semiconductor sequencing of all previously described minor exons was performed on peripheral blood cells DNA from 29 patients with Stargardt disease. Results. In the group of patients under study we have identified only genetic variants in the cryptic splice sites that represent common polymorphisms and that cannot thus be interpreted as disease causing mutations. Our cohort of the patients lacked apparently disease causing intronic nucleotide substitutions that were previously identified in the North American and European populations. Conclusion. Failure to identify ABCA4 intronic mutations in this study may be explained by low representation of patients with one or no exonic mutations in our cohort and does not compromise the utility of intron cryptic splice sites sequencing as a part of Stargardt disease molecular genetic diagnostics.

ABCA4

Stargardt disease

splice

Splice site mutation

10.1234/xxxx-xxxx-2016-6-31-36

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Молекулярная патология хромосомного района 10q23.3-26.3 при глиобластоме

Медицинская генетика (2016)

A. I. Alekseeva С. Танас В. Прозоренко Masha Zaitsev И. Куржупов

Loss of heterozygosity on chromosome 10q is the most frequent genetic alteration in glioblastoma and occurs in up to 80% of cases. Using microsatellite analysis we have determined the frequency of loss of heterozygosity in the 10q23.3-26.3 chromosome region, containing candidate genes PTEN , FGFR2, MKI67 and MGMT , in 124 samples of glioblastoma. Frequency of loss of heterozygosity at the region under investigation equals 62.1%. We have used quantitative microsatellite analysis to establish a quantitative change of copy number of the 10q23.3-26.3 in 64 samples of glioblastoma with identified loss of heterozygosity in 10q23.3-26.3 area. In 37,5% of the samples only one copy of 10q23.3-26.3 chromosome region was found (deletion), in 25,0% two copies were detected (acquired uniparental disomy,). In 37,5% (24/64) of the samples areas of alternation of deletion and acquired uniparental disomy throughout the tested region were identified. Higher frequencies of deletions were characteristic for the proximal part of 10q23.3-26.3 region (PTEN and FGFR2 genes), while acquired uniparental disomy and deletion were equally in the distal part (MGMT gene).

Uniparental disomy

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