• PMID: 17409464
• Gene Name: RBMY
• Condition: Azoospermia
• Association: A candidate combinaison composed of 4 STSs (RBMY-sy157-sy84-sy130) was associated with azoospermia in a Tunisian population.
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia

Tag STS in the AZF region associated with azoospermia in a Tunisian population

Hadjkacem-Loukil L, Ayadi I, Bahloul A, Ayadi H, Ammar-Keskes L.

The aim of this study was to determine the appropriate tag sequence tagged site (STS) associated with azoospermia. We evaluated the incidence of Y chromosome microdeletions in Tunisian infertile male patients by polymerase chain reaction using 14 STSs in the azoospermia factor (AZF) region of Yq11. A logistic regression analysis was performed to test the association of STSs with semen quality. Haploview version 3.11 was used to identify the possible blocks of deletion involving a minimum number of STSs and that can be used to tag the deletion block in future analysis. Using the 14 STSs, 48% infertile patients (102 of 210) had microdeletions of Y chromosome but, following the European Academy of Andrology guidelines, only 16% of patients had microdeletions. A statistically significant difference was found with some STSs for azoospermia and oligozoospermia. A candidate combinaison composed of 4 STSs (RBMY-sy157-sy84-sy130) was associated with azoospermia in a Tunisian population. According to this study, this tag can be used in the screening of Y chromosome microdeletions before assisted reproduction treatment in a Tunisian population. FAU - Hadjkacem-Loukil, Lobna AU - Hadjkacem-Loukil L AD - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, 3029, Tunisia. lobna_h@lycos.com FAU - Ayadi, Imen AU - Ayadi I FAU - Bahloul, Ali AU - Bahloul A FAU - Ayadi, Hammadi AU - Ayadi H