Screening of Y Chromosome Microdeletions in Tunisian Infertile Men

Hadj-Kacem, Lobna; Hadj-Kacem, Hassen; Ayadi, Hammadi; Keskes, Leila; Chakroun-Fki, N.; Rebaï, Tarek; Bahloul, Ali; Mhiri, Mohamed Nabil

doi:10.1080/01485010500397964

Cited by 7 publications

(7 citation statements)

References 32 publications

(45 reference statements)

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“…In this study, least number of total Y chromosome deletions was observed in AZFa (8.33%) and AZFb (33%) region whereas maximum deletion was seen in AZFc (41.6%) region. This is in agreement with the earlier studies which showed that the incidence of deletion in the AZFc region was high compared with the AZFa and AZFb regions [8][9][10][11].…”

Section: Pcr Analysis For Y Chromosome Microdeletionssupporting

confidence: 93%

Is Diabetic Male Fertility Associated With Y- Chromosome Microdeletion? A Pilot Study

Shruthy¹,

A²,

Poongothai³

2014

JFIV Reprod Med Genet

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Decline in fertility rate is alarming and it affects about 15.0 % of couples trying to conceive. Globally, 5.0-7.0% of the general male population is affected by infertility and the trend may increase in future. Diabetes mellitus, a state of chronic hyperglycemia, is found to be an effective cause associated with male infertility. Since both type I and type II diabetes influences male infertility, we aimed to identify the genetic link underlying diabetic male infertility. Y chromosome microdeletions were screened in 12 Type I & Type II diabetic infertile male patients of varying seminogram profile by employing Triplex (sY84, sY99 and sY156) and individual (sY86, sY100, sY134 and sY254) PCR. sY156 STS marker of AZFc region was invariably deleted in 5 diabetic infertile men in addition to sY86, sY100, sY134 STS markers. No functional gene has been assigned for the 923bp DNA fragment encoded by the sY156 STS marker. Rather, it belongs to a processed pseudogene TRIM60P8Y. Frequent deletion of sY156 marker in AZFc region in diabetic infertile men is unclear. The result showed can be further substantiated with more number of samples.

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Section: Pcr Analysis For Y Chromosome Microdeletionssupporting

confidence: 93%

Is Diabetic Male Fertility Associated With Y- Chromosome Microdeletion? A Pilot Study

Shruthy¹,

A²,

Poongothai³

2014

JFIV Reprod Med Genet

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“…We found that 102 of 210 (48%) patients had noncytogenetically detectable microdeletions. However, following the European Academy of Andrology (EAA) guidelines we found that only 16% had Y chromosome microdeletions (HadjKacem et al, 2006). The position and extent of the deletions are shown schematically in Figure 1a.…”

Section: Resultsmentioning

confidence: 93%

Tag STS in the AZF Region Associated With Azoospermia in a Tunisian Population

Hadjkacem-Loukil¹,

Ayadi

Bahloul

et al. 2007

Journal of Andrology

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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.

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“…Moreover, there are wide variations in the reported frequency of microdeletion in Tunisian population. Using the Y chromosome microdeletion in infertile Tunisian men 6 STSs markers, Hadj-Kacem et al [19] have reported an overall of 16% of Y chromosome microdeletions in 163 infertile Tunisian men with normal karyotype subdivided into 3 groups: azoospermic, oligozoospermic (less than 20 × 10 6 spz/mL), and normozoospermic men (more than 20 × 10 6 spz/mL). With the same STSs markers, two studies performed by Ghorbel et al have detected a lower frequency in azoospermic and oligozoospermic groups: 1.3% [6] and 2.7% [20], but chromosomal abnormalities in these reports were included in the first study and unspecified in the latter one ( [22].…”

Section: Resultsmentioning

confidence: 99%

“…Differences in the methods applied for the Yq microdeletion screening in Tunisian studies might account for varying deletion frequencies. The choice and number of STS markers differed widely, ranging from 6[6,19,20] to 20 STS[21] despite the fact that Simoni et al showed that the detection rate did not depend on the number and choice of markers used…”

mentioning

confidence: 99%

Prevalence of Y chromosome microdeletions in infertile Tunisian men

Hammami

Kilani

Khelifa

et al. 2014

Annales De Biologie Clinique

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Yq microdeletions are the leading genetic cause of male infertility and its detection in clinically relevant for appropriate genetic counseling. The objective of this study was to determine the frequency of Y microdeletion in a group of Tunisian infertile men and to compare the prevalence of these abnormalities with other countries and other Tunisian reported series. Totally, 105 Tunisian idiopathic infertile men (74 azoospermic and 31 severe oligozoospermic) were screened for the presence of Y chromosome microdeletions. The screening of Yq microdeletions was performed by two multiplex PCRs using six STS markers recommended by the EAA/EMQN. No microdeletions were detected in the men with severe oligozoospermia. In the azoospermic group, 2/74 (2.7%) patients showed Y chromosome microdeletions. Both had complete deletion of the AZFc region. No microdeletion was identified in the AZFa region or in the AZFb region. The estimated frequency of Y chromosome microdeletions in the present survey was similar to some other reports but lower than that of previous reports in Tunisian populations.

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Screening of Y Chromosome Microdeletions in Tunisian Infertile Men

Cited by 7 publications

References 32 publications

Is Diabetic Male Fertility Associated With Y- Chromosome Microdeletion? A Pilot Study

Is Diabetic Male Fertility Associated With Y- Chromosome Microdeletion? A Pilot Study

Tag STS in the AZF Region Associated With Azoospermia in a Tunisian Population

Prevalence of Y chromosome microdeletions in infertile Tunisian men

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