Mikhaylenko D.S.
Sobol I.Y.
Safronova N.Y.
Simonova O.A.
Efremov E.A.
Efremov G.D.
Alekseev B.Y.
Kaprin A.D.
Nemtsova M.V.
Первый Московский государственный медицинский университет им. И. М. Сеченова Минздрава России (Сеченовский Университет)
I. M. Sechenov First Moscow State Medical University (Sechenov University)
Moscow, Russia
N.A. Lopatkin Research Institute of Urology and Interventional Radiology branch of the National Medical Research Radiologial Center.
«Медико-генетический НЦ»
Research Centre for Medical Genetics
The incidence of AZF deletions, CFTR mutations and long alleles of the ar CAG repeats during the primary laboratory diagnostics in a heterogeneous group of infertily men
Текст визуальный электронный
Urologiia (Moscow, Russia : 1999)
№ 3 С. 101-107
2019
AR gene
AZF deletions
CFTR mutations
DNA-diagnostics
male infertility
Статья
Alleles G05.360.340.024.340.030
Аллели G05.360.340.024.340.030
Biomarkers D23.101
Биомаркеры D23.101
Chromosomes, Human, Y A11.284.187.520.300.505.757 A11.284.187.865.983.500 G05.360.162.520.300.505.757 G05.360.162.865.983.500
Хромосомы человека, y A11.284.187.520.300.505.757 A11.284.187.865.983.500 G05.360.162.520.300.505.757 G05.360.162.865.983.500
Cystic Fibrosis Transmembrane Conductance Regulator D12.776.157.530.100.304.500 D12.776.157.530.400.175.125 D12.776.157.530.450.074.500.500.500.500 D12.776.543.550.450.175.125 D12.776.543.585.100.304.500 D12.776.543.585.400.175.125 D12.776.543.585.450.074.500.500.500.500
Cystic Fibrosis Transmembrane Conductance Regulator genetics D12.776.157.530.100.304.500 D12.776.157.530.400.175.125 D12.776.157.530.450.074.500.500.500.500 D12.776.543.550.450.175.125 D12.776.543.585.100.304.500 D12.776.543.585.400.175.125 D12.776.543.585.450.074.500.500.500.500
Кистозного фиброза трансмембранной проводимости регулятор D12.776.157.530.100.304.500 D12.776.157.530.400.175.125 D12.776.157.530.450.074.500.500.500.500 D12.776.543.550.450.175.125 D12.776.543.585.100.304.500 D12.776.543.585.400.175.125 D12.776.543.585.450.074.500.500.500.500
Кистозного фиброза трансмембранной проводимости регулятор генетика D12.776.157.530.100.304.500 D12.776.157.530.400.175.125 D12.776.157.530.450.074.500.500.500.500 D12.776.543.550.450.175.125 D12.776.543.585.100.304.500 D12.776.543.585.400.175.125 D12.776.543.585.450.074.500.500.500.500
Humans B01.050.150.900.649.313.988.400.112.400.400
Человек B01.050.150.900.649.313.988.400.112.400.400
Incidence E05.318.308.985.525.375 N01.224.935.597.500 N06.850.505.400.975.525.375 N06.850.520.308.985.525.375
Заболеваемость, новые случаи E05.318.308.985.525.375 N01.224.935.597.500 N06.850.505.400.975.525.375 N06.850.520.308.985.525.375
Infertility, Male C12.100.500.430 C12.100.750.700 C12.200.294.430
Infertility, Male diagnosis C12.100.500.430 C12.100.750.700 C12.200.294.430
Infertility, Male genetics C12.100.500.430 C12.100.750.700 C12.200.294.430
Бесплодие мужское C12.100.500.430 C12.100.750.700 C12.200.294.430
Бесплодие мужское диагностика C12.100.500.430 C12.100.750.700 C12.200.294.430
Бесплодие мужское генетика C12.100.500.430 C12.100.750.700 C12.200.294.430
Male
Мужской
Mutation G05.365.590
Мутация G05.365.590
Oligospermia C12.100.500.430.508 C12.100.750.700.508 C12.200.294.430.508
Олигоспермия C12.100.500.430.508 C12.100.750.700.508 C12.200.294.430.508
Retrospective Studies E05.318.372.500.500.500 E05.318.372.500.750.750 N05.715.360.330.500.500.500 N05.715.360.330.500.750.825 N06.850.520.450.500.500.500 N06.850.520.450.500.750.825
Ретроспективные исследования E05.318.372.500.500.500 E05.318.372.500.750.750 N05.715.360.330.500.500.500 N05.715.360.330.500.750.825 N06.850.520.450.500.500.500 N06.850.520.450.500.750.825
Journal Article V02.600
Журнальная статья V02.600
CFTR protein, human
microdeletions in the AZF region of Y-chromosome, compound heterozygotes of severe and mild CFTR mutations, and long CAG-repeats in the androgen receptor gene (AR) as marker of predisposition are frequently studied as genetic causes of male infertility. A simultaneously testing of the panel including biochemical, immunological, cyto- and molecular genetic markers is often performed during the complex laboratory diagnostics in infertile men. The aim of our work was to identify molecular genetic alterations, which are advisable for simultaneously testing in a man with currently uncertain form of infertility, to increase the informativeness of laboratory diagnostics.