Globozoospermic infertility associated with balanced DPY19L2 translocation/gene deletion at the chromosomal breakpoint
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چکیده
منابع مشابه
Globozoospermic infertility associated with balanced DPY19L2 translocation/gene deletion at the chromosomal breakpoint
cases found that 11 patients (61.1%) had a homozygous deletion of a 200‐kb fragment of the DPY19L gene, two (11.1%) had a homozygous nonsynonymous mutation in exon 8 (p.R298C), one (5.6%) had a homozygous new splice site mutation at the junction of exon‐intron 16 (c.1579_1580 + 4delAGGTAAinsTCAT), and four (22.2%) had no mutations in DPY19L2, SPATA16, or PICK1.4 In humans, the DPY19L2 gene is l...
متن کاملP-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 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 کاملO-35: Assessment of Genetic Variations of DPY19L2 in Total Globozoospermic Patients Referring to Royan Institute
Background Globozoospermia is a rare but severe teratozoospermia disorder which causes male infertility. Total globozoospermia is diagnosed by the presence of 100% roundheaded spermatozoa lacking an acrosome in semen analysis. Recent studies have shown that in large majority of globozoospermic patients, deletion of a 200 kb segment including the DPY19L2 gene occurs. Among all the genes in this ...
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ژورنال
عنوان ژورنال: Asian Journal of Andrology
سال: 2018
ISSN: 1008-682X
DOI: 10.4103/1008-682x.196314