• PMID: 27457284
• Gene Name: CDY1B
• Condition: Male infertility
• Association: Associated
• Mutation: AZFc deletion (gr/gr-DAZ2-DAZ4-CDY1b)
• Population size: 356
• Population details: 356 (241 infertile men,115 fertile healthy males)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population

Ghorbel M, Baklouti-Gargouri S, Keskes R, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L.

The azoospermia factor c (AZFc) region harbors multi-copy genes that are expressed in the testis. Deletions of this region lead to reduced copy numbers of these genes. In this present study we aimed to determine the frequency of AZFc subdeletion in infertile and fertile men from Tunisia and to identify whether deletions of DAZ and CDY1 gene copies are deleterious on spermatogenesis and on semen quality. We studied a group of 241 infertile men and 115 fertile healthy males using a sequence tagged site (STS)±method. To gain insight into the molecular basis of the heterogeneous phenotype observed in men with the deletion we defined the type of DAZ and CDY1 genes deleted. We reported in the present study and for the first time a new type of AZFc deletion (gr/gr-DAZ2-DAZ4-CDY1b) and hypothesis that this new deletion is the result of two successive events. We also demonstrated that this deletion constitutes a relative high-risk factor for male infertility in Tunisian population. CI - Copyright © 2016 Elsevier B.V. All rights reserved. FAU - Ghorbel, Myriam AU - Ghorbel M AD - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. Electronic address: myriamgh29@gmail.com. FAU - Baklouti-Gargouri, Siwar AU - Baklouti-Gargouri S AD - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. FAU - Keskes, Rim AU - Keskes R AD - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. FAU - Chakroun, Nozha AU - Chakroun N AD - Laboratory of Histology & Embryology, Faculty of Medicine, Sfax, Tunisia. FAU - Sellami, Afifa AU - Sellami A AD - Laboratory of Histology & Embryology, Faculty of Medicine, Sfax, Tunisia. FAU - Fakhfakh, Faiza AU - Fakhfakh F AD - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.