MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia
نویسندگان
چکیده
منابع مشابه
MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.
STUDY QUESTION Do DPY19L2 heterozygous deletions and point mutations account for some cases of globozoospermia? SUMMARY ANSWER Two DPY19L2 heterozygous deletions and three point mutations were identified, thus further confirming that genetic alterations of the DPY19L2 gene are the main cause of globozoospermia and indicating that DPY19L2 molecular diagnostics should not be stopped in the abse...
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
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 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
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 t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Reproduction
سال: 2012
ISSN: 0268-1161,1460-2350
DOI: 10.1093/humrep/des160