Clinical relevance of partial AZFc deletions

التفاصيل البيبلوغرافية
العنوان: Clinical relevance of partial AZFc deletions
المؤلفون: Cindy M. Korver, Sjoerd Repping, Fulco van der Veen, Saskia K.M. van Daalen, Nico J. Leschot, Jan W.A de Vries
المساهمون: Obstetrics and Gynaecology, Center for Reproductive Medicine, Other departments
المصدر: Fertility and sterility, 78(6), 1209-1214. Elsevier Inc.
بيانات النشر: Elsevier BV, 2002.
سنة النشر: 2002
مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, medicine.medical_treatment, Population, Biology, Y chromosome, Intracytoplasmic sperm injection, Male infertility, Andrology, Gene cluster, medicine, Humans, Genetic Testing, Prospective Studies, Sperm Injections, Intracytoplasmic, Spermatogenesis, education, In Situ Hybridization, Fluorescence, reproductive and urinary physiology, Gynecology, Azoospermia, education.field_of_study, Chromosomes, Human, Y, medicine.diagnostic_test, urogenital system, Seminal Plasma Proteins, Obstetrics and Gynecology, medicine.disease, Spermatozoa, Tissue Donors, Protein Structure, Tertiary, Reproductive Medicine, Genetic Loci, Karyotyping, Multigene Family, Sperm Motility, Gene Deletion, Fluorescence in situ hybridization
الوصف: Objective To determine the number of DAZ gene clusters in the Y-bearing spermatozoa of patients who underwent intracytoplasmic sperm injection (ICSI) and to compare the outcome with the number of clusters found in the spermatozoa of normospermic men. Design Prospective study. Setting Academic hospital. Patient(s) Forty-seven patients with impaired spermatogenesis who were attending our clinic for ICSI and 56 semen donors. Intervention(s) Peripheral blood was drawn to obtain somatic DNA for polymerase chain reaction (PCR) analysis and leukocytes for karyotyping and FISH analysis. Three-color FISH was performed on the spermatozoa remaining after ICSI and on the spermatozoa of semen donors to determine the presence of the X and Y chromosome as well as the number of DAZ gene clusters. Main outcome measure(s) Number of DAZ gene clusters in Y-bearing spermatozoa. Result(s) Five patients had only one DAZ gene cluster, one patient had a complete AZFc deletion, and one patient had three clusters on average. One of the semen donors also showed three DAZ gene clusters in his Y-bearing spermatozoa. None of the semen donors had only one DAZ gene cluster. Conclusion(s) Besides complete AZFc deletions, partial deletions are also associated with impaired spermatogenesis. As a result, these partial deletions that are not recognized by routine PCR are reintroduced into the population by the ICSI technique.
تدمد: 0015-0282
DOI: 10.1016/s0015-0282(02)04390-x
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed48496b90a3258e400ad4ba6c61b434
https://doi.org/10.1016/s0015-0282(02)04390-x
Rights: RESTRICTED
رقم الانضمام: edsair.doi.dedup.....ed48496b90a3258e400ad4ba6c61b434
قاعدة البيانات: OpenAIRE