Андрология и генитальная хирургия. 2017; 18: 10-22
НОВЫЕ МОЛЕКУЛЯРНЫЕ ТЕХНОЛОГИИ В ДИАГНОСТИКЕ ГЕНЕТИЧЕСКИХ ПРИЧИН МУЖСКОГО БЕСПЛОДИЯ
https://doi.org/10.17650/2070-9781-2017-18-1-10-22Аннотация
В последние годы стремительное развитие технологий в области молекулярной генетики и цитогенетики привело к значительному расширению возможностей исследования и диагностики различных изменений генома. В статье приведено краткое описание новых молекулярных технологий, результаты их использования в репродуктивной медицине, а также их перспективы в диагностике причин бесплодия у мужчин.
Список литературы
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43. Marshall C.R., Scherer S.W., Zariwala M.A. et al. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda) 2015;5(8):1775–81.
Andrology and Genital Surgery. 2017; 18: 10-22
NEW MOLECULAR TECHNOLOGIES IN GENETIC DIAGNOSIS OF MALE INFERTILITY
https://doi.org/10.17650/2070-9781-2017-18-1-10-22Abstract
In recent years, the accelerated development of technologies in the field of molecular genetics and cytogenetics has led to significant opportunities of the research and diagnosis of mutations and variations of the genome. This article provides a brief review of new molecular technology, also as the results of their use in reproductive medicine and their perspectives in the genetic diagnosis of male infertility.
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39. Lu C., Xu M., Wang R. et al. A genomewide association study of mitochondrial DNA in Chinese men identifies two risk single nucleotide substitutions for idiopathic oligoasthenospermia. Mitochondrion 2015;24:87–92.
40. Arboleda V.A., Lee H., Sanchez F.J. et al. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clin Genet 2013;83(1):35–43.
41. Baxter R.M., Arboleda V.A., Lee H. et al. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab 2015;100(2):E333–44.
42. Quaynor S.D., Bosley M.E., Duckworth C.G. et al. Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Mol Cell Endocrinol 2016;437:86–96.
43. Marshall C.R., Scherer S.W., Zariwala M.A. et al. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda) 2015;5(8):1775–81.
