Izvorni znanstveni članak
https://doi.org/10.3325/cmj.2021.62.227
A novel mutation in FK506 binding protein-like (FKBPL) causes male infertility
Derya Akyuz Sengun
; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey
Esra Guzel Tanoglu
; Department of Molecular Biology and Genetics, University of Health Sciences, Istanbul, Turkey
Hakan Ulucan
; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey
Sažetak
Aim To perform a mutation analysis of FK506 binding protein-like (FKBPL) in patients with azoospermia.
Methods DNA samples were isolated from the peripheral
blood of 30 azoospermic male patients with normal 46 XY
karyotype and 10 healthy controls. Multiplex polymerase
chain reaction assays were used to evaluate Y microdeletions, and the patients without deletions were further analyzed. Sanger sequencing was used for mutation analysis.
Results A heterozygous adenine to guanine substitution
was observed at position c.28 (c.28A>G) (one patient), guanine to adenine substitution at c.90 (c.90G>A) (three patients), and a novel insertion mutation of TCTCATAAGTCT
at c. 229_240dup (two patients), all in FKBPL exon 2. Furthermore, four different benign variants were observed in
the same gene.
Conclusion Our study supports the literature on the etiologic effects of changes on autosomal chromosomes
and highlights the importance of molecular analysis of
all known and unknown genes that could be involved in
male sexual development and function
Ključne riječi
Hrčak ID:
278131
URI
Datum izdavanja:
24.6.2021.
Posjeta: 439 *