12 research outputs found
Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure
The chromosomal anomalies, microdeletions of AZF region of Y-chromosome and CFTR gene mutations have been studied among 80 infertile men with idiopathic spermatogenetic failure: 36 (45 %) patients with aspermia, 19 (24 %) patients with azoospermia and 25 (31 %) patients with severe oligoasthenoteratozoospermia. In total 30 % males with spermatogenetic failure genetic factor of infertility was observed. Karyotype anomalies were observed in 17.5 % of infertile men, within 16.2 % numerical and structural gonosomal anomalies and in 1.3 % β Robertsonian translocation were revealed. In 11 % males with spermatogenetic failure, Y-chromosome AZF region microdeletions were detected. The frequency of CFTR major mutation F508del among infertile men was 6.25 %. 5T allele of polymorphic locus IVS8polyT was detected in 7.5 % of examined men. The results obtained indicate the high complexity of cytogenetic and moleculargenetic studies of male infertility.ΠΠ·ΡΡΠ°Π»ΠΈ Π°Π½ΠΎΠΌΠ°Π»ΠΈΠΈ Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌ, ΠΌΠΈΠΊΡΠΎΠ΄Π΅Π»Π΅ΡΠΈΠΈ AZF ΡΠ΅Π³ΠΈΠΎΠ½Π° Y-Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌΡ ΠΈ ΠΌΡΡΠ°ΡΠΈΠΈ Π³Π΅Π½Π° Π’Π ΠΠ Ρ 80 ΠΌΡΠΆΡΠΈΠ½ Ρ ΠΈΠ΄ΠΈΠΎΠΏΠ°ΡΠΈΡΠ΅ΡΠΊΠΈΠΌΠΈ Π½Π°ΡΡΡΠ΅Π½ΠΈΡΠΌΠΈ ΡΠΏΠ΅ΡΠΌΠ°ΡΠΎΠ³Π΅Π½Π΅Π·Π°, Π° ΠΈΠΌΠ΅Π½Π½ΠΎ: Ρ 36 (45 %) ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π°ΡΠΏΠ΅ΡΠΌΠΈΠ΅ΠΉ, 19 (24 %) ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π°Π·ΠΎΠΎΡΠΏΠ΅ΡΠΌΠΈΠ΅ΠΉ ΠΈ 25 (31 %) ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ ΠΎΠ»ΠΈΠ³ΠΎΠ°ΡΡΠ΅Π½ΠΎΡΠ΅ΡΠ°ΡΠΎΠ·ΠΎΠΎΡΠΏΠ΅ΡΠΌΠΈΠ΅ΠΉ IV ΡΡΠ΅ΠΏΠ΅Π½ΠΈ. Π ΠΎΠ±ΡΠ΅ΠΌ Ρ 30 % ΠΌΡΠΆΡΠΈΠ½ Ρ Π½Π°ΡΡΡΠ΅Π½ΠΈΡΠΌΠΈ ΡΠΏΠ΅ΡΠΌΠ°ΡΠΎΠ³Π΅Π½Π΅Π·Π° ΡΡΡΠ°Π½ΠΎΠ²Π»Π΅Π½Ρ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΡΠ°ΠΊΡΠΎΡΡ Π±Π΅ΡΠΏΠ»ΠΎΠ΄ΠΈΡ. ΠΠ°ΡΡΡΠ΅Π½ΠΈΡ ΠΊΠ°ΡΠΈΠΎΡΠΈΠΏΠ° Π½Π°Π±Π»ΡΠ΄Π°Π»ΠΈ Ρ 17.5 % Π±Π΅ΡΠΏΠ»ΠΎΠ΄Π½ΡΡ
ΠΌΡΠΆΡΠΈΠ½, ΡΡΠ΅Π΄ΠΈ Π½ΠΈΡ
Ρ 16.2 % β ΠΊΠΎΠ»ΠΈΡΠ΅ΡΡΠ²Π΅Π½Π½ΡΠ΅ ΠΈ ΡΡΡΡΠΊΡΡΡΠ½ΡΠ΅ Π°Π½ΠΎΠΌΠ°Π»ΠΈΠΈ Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌ ΠΈ Ρ 1.3 % β ΡΠΎΠ±Π΅ΡΡΡΠΎΠ½ΠΎΠ²ΡΠΊΡΡ ΡΡΠ°Π½ΡΠ»ΠΎΠΊΠ°ΡΠΈΡ. Π£ 11 % ΠΌΡΠΆΡΠΈΠ½ Ρ Π½Π°ΡΡΡΠ΅Π½ΠΈΡΠΌΠΈ ΡΠΏΠ΅ΡΠΌΠ°ΡΠΎΠ³Π΅Π½Π΅Π·Π° Π²ΡΡΠ²ΠΈΠ»ΠΈ ΠΌΠΈΠΊΡΠΎΠ΄Π΅Π»Π΅ΡΠΈΠΈ AZF ΡΠ΅Π³ΠΈΠΎΠ½Π° Y Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌΡ. Π§Π°ΡΡΠΎΡΠ° ΠΌΠ°ΠΆΠΎΡΠ½ΠΎΠΉ ΠΌΡΡΠ°ΡΠΈΠΈ F508del Π³Π΅Π½Π° Π’Π ΠΠ ΡΡΠ΅Π΄ΠΈ Π±Π΅ΡΠΏΠ»ΠΎΠ΄Π½ΡΡ
ΠΌΡΠΆΡΠΈΠ½ ΡΠΎΡΡΠ°Π²ΠΈΠ»Π° 6.25 %. 5T Π°Π»Π»Π΅Π»Ρ ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠ½ΠΎΠ³ΠΎ Π»ΠΎΠΊΡΡΠ° IVS8polyT Π²ΡΡΠ²ΠΈΠ»ΠΈ Ρ 7.5 % ΠΎΠ±ΡΠ»Π΅Π΄ΠΎΠ²Π°Π½Π½ΡΡ
ΠΌΡΠΆΡΠΈΠ½. ΠΠΎΠ»ΡΡΠ΅Π½Π½ΡΠ΅ ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΡ ΡΠ²ΠΈΠ΄Π΅ΡΠ΅Π»ΡΡΡΠ²ΡΡΡ ΠΎ Π²ΡΡΠΎΠΊΠΎΠΉ ΠΈΠ½ΡΠΎΡΠΌΠ°ΡΠΈΠ²Π½ΠΎΡΡΠΈ ΠΊΠΎΠΌΠΏΠ»Π΅ΠΊΡΠ½ΠΎΠ³ΠΎ ΡΠΈΡΠΎΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΈ ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ ΠΏΡΠΈ ΠΌΡΠΆΡΠΊΠΎΠΌ Π±Π΅ΡΠΏΠ»ΠΎΠ΄ΠΈΠΈ
Organoleptic, physico-chemical, microbiological indicators of yogurt enriched with biologically active iodine
The variety of Cystic Fibrosis genotypes of patients from Western Ukraine: ethnographical and population impact
Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure
The chromosomal anomalies, microdeletions of AZF region of Y-chromosome and CFTR gene mutations have been studied among 80 infertile men with idiopathic spermatogenetic failure: 36 (45 %) patients with aspermia, 19 (24 %) patients with azoospermia and 25 (31 %) patients with severe oligoasthenoteratozoospermia. In total 30 % males with spermatogenetic failure genetic factor of infertility was observed. Karyotype anomalies were observed in 17.5 % of infertile men, within 16.2 % numerical and structural gonosomal anomalies and in 1.3 % β Robertsonian translocation were revealed. In 11 % males with spermatogenetic failure, Y-chromosome AZF region microdeletions were detected. The frequency of CFTR major mutation F508del among infertile men was 6.25 %. 5T allele of polymorphic locus IVS8polyT was detected in 7.5 % of examined men. The results obtained indicate the high complexity of cytogenetic and moleculargenetic studies of male infertility.ΠΠ·ΡΡΠ°Π»ΠΈ Π°Π½ΠΎΠΌΠ°Π»ΠΈΠΈ Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌ, ΠΌΠΈΠΊΡΠΎΠ΄Π΅Π»Π΅ΡΠΈΠΈ AZF ΡΠ΅Π³ΠΈΠΎΠ½Π° Y-Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌΡ ΠΈ ΠΌΡΡΠ°ΡΠΈΠΈ Π³Π΅Π½Π° Π’Π ΠΠ Ρ 80 ΠΌΡΠΆΡΠΈΠ½ Ρ ΠΈΠ΄ΠΈΠΎΠΏΠ°ΡΠΈΡΠ΅ΡΠΊΠΈΠΌΠΈ Π½Π°ΡΡΡΠ΅Π½ΠΈΡΠΌΠΈ ΡΠΏΠ΅ΡΠΌΠ°ΡΠΎΠ³Π΅Π½Π΅Π·Π°, Π° ΠΈΠΌΠ΅Π½Π½ΠΎ: Ρ 36 (45 %) ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π°ΡΠΏΠ΅ΡΠΌΠΈΠ΅ΠΉ, 19 (24 %) ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π°Π·ΠΎΠΎΡΠΏΠ΅ΡΠΌΠΈΠ΅ΠΉ ΠΈ 25 (31 %) ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ ΠΎΠ»ΠΈΠ³ΠΎΠ°ΡΡΠ΅Π½ΠΎΡΠ΅ΡΠ°ΡΠΎΠ·ΠΎΠΎΡΠΏΠ΅ΡΠΌΠΈΠ΅ΠΉ IV ΡΡΠ΅ΠΏΠ΅Π½ΠΈ. Π ΠΎΠ±ΡΠ΅ΠΌ Ρ 30 % ΠΌΡΠΆΡΠΈΠ½ Ρ Π½Π°ΡΡΡΠ΅Π½ΠΈΡΠΌΠΈ ΡΠΏΠ΅ΡΠΌΠ°ΡΠΎΠ³Π΅Π½Π΅Π·Π° ΡΡΡΠ°Π½ΠΎΠ²Π»Π΅Π½Ρ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΡΠ°ΠΊΡΠΎΡΡ Π±Π΅ΡΠΏΠ»ΠΎΠ΄ΠΈΡ. ΠΠ°ΡΡΡΠ΅Π½ΠΈΡ ΠΊΠ°ΡΠΈΠΎΡΠΈΠΏΠ° Π½Π°Π±Π»ΡΠ΄Π°Π»ΠΈ Ρ 17.5 % Π±Π΅ΡΠΏΠ»ΠΎΠ΄Π½ΡΡ
ΠΌΡΠΆΡΠΈΠ½, ΡΡΠ΅Π΄ΠΈ Π½ΠΈΡ
Ρ 16.2 % β ΠΊΠΎΠ»ΠΈΡΠ΅ΡΡΠ²Π΅Π½Π½ΡΠ΅ ΠΈ ΡΡΡΡΠΊΡΡΡΠ½ΡΠ΅ Π°Π½ΠΎΠΌΠ°Π»ΠΈΠΈ Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌ ΠΈ Ρ 1.3 % β ΡΠΎΠ±Π΅ΡΡΡΠΎΠ½ΠΎΠ²ΡΠΊΡΡ ΡΡΠ°Π½ΡΠ»ΠΎΠΊΠ°ΡΠΈΡ. Π£ 11 % ΠΌΡΠΆΡΠΈΠ½ Ρ Π½Π°ΡΡΡΠ΅Π½ΠΈΡΠΌΠΈ ΡΠΏΠ΅ΡΠΌΠ°ΡΠΎΠ³Π΅Π½Π΅Π·Π° Π²ΡΡΠ²ΠΈΠ»ΠΈ ΠΌΠΈΠΊΡΠΎΠ΄Π΅Π»Π΅ΡΠΈΠΈ AZF ΡΠ΅Π³ΠΈΠΎΠ½Π° Y Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌΡ. Π§Π°ΡΡΠΎΡΠ° ΠΌΠ°ΠΆΠΎΡΠ½ΠΎΠΉ ΠΌΡΡΠ°ΡΠΈΠΈ F508del Π³Π΅Π½Π° Π’Π ΠΠ ΡΡΠ΅Π΄ΠΈ Π±Π΅ΡΠΏΠ»ΠΎΠ΄Π½ΡΡ
ΠΌΡΠΆΡΠΈΠ½ ΡΠΎΡΡΠ°Π²ΠΈΠ»Π° 6.25 %. 5T Π°Π»Π»Π΅Π»Ρ ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠ½ΠΎΠ³ΠΎ Π»ΠΎΠΊΡΡΠ° IVS8polyT Π²ΡΡΠ²ΠΈΠ»ΠΈ Ρ 7.5 % ΠΎΠ±ΡΠ»Π΅Π΄ΠΎΠ²Π°Π½Π½ΡΡ
ΠΌΡΠΆΡΠΈΠ½. ΠΠΎΠ»ΡΡΠ΅Π½Π½ΡΠ΅ ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΡ ΡΠ²ΠΈΠ΄Π΅ΡΠ΅Π»ΡΡΡΠ²ΡΡΡ ΠΎ Π²ΡΡΠΎΠΊΠΎΠΉ ΠΈΠ½ΡΠΎΡΠΌΠ°ΡΠΈΠ²Π½ΠΎΡΡΠΈ ΠΊΠΎΠΌΠΏΠ»Π΅ΠΊΡΠ½ΠΎΠ³ΠΎ ΡΠΈΡΠΎΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΈ ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ ΠΏΡΠΈ ΠΌΡΠΆΡΠΊΠΎΠΌ Π±Π΅ΡΠΏΠ»ΠΎΠ΄ΠΈΠΈ