Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility.

Abstract:

: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 (STSs) markers which are placed in the Y chromosome AZF region, 2 short tandem repeats (STRs) and 3 segmental duplications (SDs)). 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.

journal_name

Andrologia

journal_title

Andrologia

authors

Bahrami Zadegan S,Dabbagh Bagheri S,Joudaki A,Samiee Aref MH,Saeidian AH,Abiri M,Zeinali S

doi

10.1111/and.12946

subject

Has Abstract

pub_date

2017-12-28 00:00:00

eissn

0303-4569

issn

1439-0272

pub_type

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