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Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility
Author(s) -
Bahrami Zadegan S.,
Dabbagh Bagheri S.,
Joudaki A.,
Samiee Aref M. H.,
Saeidian A. H.,
Abiri M.,
Zeinali S.
Publication year - 2018
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/and.12946
Subject(s) - azoospermia factor , male infertility , y chromosome , infertility , genetics , biology , sequence tagged site , azoospermia , chromosome , klinefelter syndrome , gene , andrology , medicine , gene mapping , pregnancy , endocrinology
Summary Azoospermia factor ( AZF ) genes are involved in spermatogenesis. Deletions in the region of these genes have been recognised as a major genetic cause of infertility due to defects in spermatogenesis. Klinefelter syndrome ( KS ) is the other main cause of male infertility. This study was performed to establish a novel method for the detection of genetic causes of infertility in males and also to investigate the prevalence, extent and position of Y chromosome microdeletions in Iranian infertile men. We developed a newly designed panel of fluorescent multiplex‐ PCR method to amplify 20 markers (15 sequence‐tagged sites ( STS s) markers which are placed in the Y chromosome AZF region, 2 short tandem repeats ( STR s) and 3 segmental duplications ( SD s)). This multifunctional method is for the simultaneous detection of Y chromosome microdeletions and KS . Among 149 studied infertile men, one was detected to suffer from KS and seven (4.7%) were detected with the presence of one or more deleted STS loci. The main cause of infertility for the remaining patients would be nongenetic factors. This strategy is represented as a fast and accurate method to determine the frequencies of different AZF microdeletions which are suitable for use in clinical purposes.