DPY19L2 Deletion as a Major Cause of Globozoospermia
نویسندگان
چکیده
منابع مشابه
P-204: Evaluation of DPY19L2 Gene Deletion As A Major Cause of Globozoospermia, in Iranian Globozoospermic Infertile Men
Background: Male infertility is a Multifactorial syndrome encompassing a wide variety of disorders. In more than half of infertile men, the cause of their infertility is unknown (idiopathic) and could be congenital or acquired. Globozoospermia, also called round-headed spermatozoa, is a rare disease with incidence< 0.1% among male infertile patients. The most prominent feature of globozoospermi...
متن کاملDPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations.
Globozoospermia, characterized by round-headed spermatozoa without acrosomes, is a rare and severe teratozoospermia causing primary male infertility. Homozygous DPY19L2 deletions have been identified as the main cause of globozoospermia, blocking sperm head elongation and acrosome formation. Several previous studies showed a very different prevalence of DPY19L2 gene deletions among globozoosper...
متن کاملAssessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping
Objective Globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. Researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of DPY19L2 or mutations in SPATA16 and PICK1 genes associated with globozoospermia. The aim of this study was to analyze the DPY19L2 gene deletion using polymerase chain reaction technique for th...
متن کاملAssessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping
BACKGROUND Globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. Researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of DPY19L2 or mutations in SPATA16 and PICK1 genes associated with globozoospermia. The aim of this study was to analyze the DPY19L2 gene deletion using polymerase chain reaction technique for t...
متن کاملA Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia
Globozoospermia is a rare but severe teratozoospermia, characterized by ejaculates consisting completely of round-headed spermatozoa that lack an acrosome or, in partial globozoospermia, containing a variable proportion (20.0-90.0%) of acrosomeless spermatozoa. Men that are affected with total globozoospermia are infertile, and even the application of intracytoplasmic sperm injection (ICSI) has...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2011
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2011.01.018