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Titre : Les anomalies morphologiques responsables des infertilités masculines dans l’Est Algérien : Aspect épidémiologique et génétique Type de document : texte imprimé Auteurs : Leyla Ounis, Auteur ; L Rouabah, Directeur de thèse Editeur : constantine [Algérie] : Université Constantine 1 Année de publication : 2014 Importance : 171 f. Format : 30 cm. Note générale : 2 copies imprimées disponibles
Langues : Français (fre) Tags : Infertilité masculine infertilité primaire infertilité secondaire spermogramme spermocytogramme AURKC macrocéphalie DPY19L2 Male infertility primary infertility secondary infertility semen analysis spermocytogram macrocephaly ????? ??? ?????? ????? ????????? ????? ??????? Index. décimale : 570 Sciences de la vie. Biologie Résumé :
Male infertility is a relatively common condition in our country. Multiple male etiological factors are what guides us to an epidemiological study of the various factors behavioral and environmental risk decreasing sperm parameters. the second part of this study aims is to achieve the molecular exploration of rare forms of male infertility related to monomorphic tératozoospermia (macrozoospermia and globozoospermia), determining the newly described mutations in genes AURORA KINASE C and DPY19L2 respectively and determining for the first time the frequency of these unusual anomalies in a population of Algerian origin.
This is a retrospective descriptive study of 404 patients intended by their doctor for infertility diagnosis and intended for an AMP. Epidemiological, clinical and laboratory parameters were recorded for each patient. 19 patients with OAT with rare severe morphological abnormalities (globozoospermia, macrozoospermia) were selected for DNA analysis. 7 exons of the AURKC gene were amplified looking for a mutation in one of
these exons and the MLPA technique was performed in search of a deletion of DPY19L2.
The frequency of patients with semen analysis and / or medical spermocytogramme was 83.3% with a predominance of sperm abnormality oligo-astheno-teratospermia (OAT).
This study shows a moderate effect of environmental factors and behavioral risk on sperm parameters. The exposure to heat and toxins appear to be the most detrimental factor for spermatogenesis. There was a significant decrease in the count exposed to high heat and /or toxic inhalations. Fourteen men and seven respectively showed a typical profile of macrozoospermia and globozoospermia. Molecular diagnosis of AURKC and DPY19L2 was performed for these patients. Eleven men with macrozoospermia had a homozygous
mutation AURKC (79%) indicating that mutations AURKC were identified in 2.7% of patients with abnormal semen analysis. All men with globozoospermia analyzed (n = 5) showed a homozygous deletion DPY19L2 or 1.2% of infertile men. This study confirmed the recurrence of two mutations AURKC and DPY19L2 deletion in Algerian infertile men.
We observed that macrozoospermia is 2-3 times more common than globozoospermia. Our results confirm that ICSI can not be effective for patients with AURKC homozygous mutation. This highlights the importance of molecular diagnostics of AURKC gene to limit unnecessary ICSI attempts.Diplôme : Doctorat En ligne : ../theses/biologie/OUN6639.pdf Format de la ressource électronique : Permalink : https://bu.umc.edu.dz/md/index.php?lvl=notice_display&id=9773 Les anomalies morphologiques responsables des infertilités masculines dans l’Est Algérien : Aspect épidémiologique et génétique [texte imprimé] / Leyla Ounis, Auteur ; L Rouabah, Directeur de thèse . - constantine (Route ain el bey, Algérie) : Université Constantine 1, 2014 . - 171 f. ; 30 cm.
2 copies imprimées disponibles
Langues : Français (fre)
Tags : Infertilité masculine infertilité primaire infertilité secondaire spermogramme spermocytogramme AURKC macrocéphalie DPY19L2 Male infertility primary infertility secondary infertility semen analysis spermocytogram macrocephaly ????? ??? ?????? ????? ????????? ????? ??????? Index. décimale : 570 Sciences de la vie. Biologie Résumé :
Male infertility is a relatively common condition in our country. Multiple male etiological factors are what guides us to an epidemiological study of the various factors behavioral and environmental risk decreasing sperm parameters. the second part of this study aims is to achieve the molecular exploration of rare forms of male infertility related to monomorphic tératozoospermia (macrozoospermia and globozoospermia), determining the newly described mutations in genes AURORA KINASE C and DPY19L2 respectively and determining for the first time the frequency of these unusual anomalies in a population of Algerian origin.
This is a retrospective descriptive study of 404 patients intended by their doctor for infertility diagnosis and intended for an AMP. Epidemiological, clinical and laboratory parameters were recorded for each patient. 19 patients with OAT with rare severe morphological abnormalities (globozoospermia, macrozoospermia) were selected for DNA analysis. 7 exons of the AURKC gene were amplified looking for a mutation in one of
these exons and the MLPA technique was performed in search of a deletion of DPY19L2.
The frequency of patients with semen analysis and / or medical spermocytogramme was 83.3% with a predominance of sperm abnormality oligo-astheno-teratospermia (OAT).
This study shows a moderate effect of environmental factors and behavioral risk on sperm parameters. The exposure to heat and toxins appear to be the most detrimental factor for spermatogenesis. There was a significant decrease in the count exposed to high heat and /or toxic inhalations. Fourteen men and seven respectively showed a typical profile of macrozoospermia and globozoospermia. Molecular diagnosis of AURKC and DPY19L2 was performed for these patients. Eleven men with macrozoospermia had a homozygous
mutation AURKC (79%) indicating that mutations AURKC were identified in 2.7% of patients with abnormal semen analysis. All men with globozoospermia analyzed (n = 5) showed a homozygous deletion DPY19L2 or 1.2% of infertile men. This study confirmed the recurrence of two mutations AURKC and DPY19L2 deletion in Algerian infertile men.
We observed that macrozoospermia is 2-3 times more common than globozoospermia. Our results confirm that ICSI can not be effective for patients with AURKC homozygous mutation. This highlights the importance of molecular diagnostics of AURKC gene to limit unnecessary ICSI attempts.Diplôme : Doctorat En ligne : ../theses/biologie/OUN6639.pdf Format de la ressource électronique : Permalink : https://bu.umc.edu.dz/md/index.php?lvl=notice_display&id=9773 Exemplaires
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Titre : Génétique mitochondriale des infertilités masculines Type de document : texte imprimé Auteurs : Mohamed Larbi Rezgoune, Auteur ; Dalila Satta, Directeur de thèse ; Abdelhamid Slama, Directeur de thèse Editeur : جامعة الإخوة منتوري قسنطينة Année de publication : 2016 Importance : 187 f. Format : 30 cm. Note générale : 2 copies imprimées disponibles
Langues : Français (fre) Tags : mitochondrie polymorphisme infertilité masculine biologie moléculaire mitochondria polymorphism male infertility molecular biology ???????????? ???? ??????? ?????? ???????? ??????? ??? ?????? ?????????? ???????? Index. décimale : 570 Sciences de la vie. Biologie Résumé : Mitochondria play a central role in energy metabolism, homeostasis and apoptosis.
These functions are in part under the control of a mitochondrial genome, support of cytoplasmic heredity, whose transmission is only maternal. The involvement of these organelles in human reproduction is a relatively new concept that arouses scientific and medical interest. Abnormalities both qualitative and quantitative of mitochondrial DNA (mtDNA) have been associated with male fertility disorders.
Infertility concerns 10 to 15 % of couples wishing to have a child, a male component is found
in almost half of cases. In a significant proportion of these cases, a known genetic basis,
chromosomal or gene, sometimes transmitted from the parents, is involved.
In this work, in a first part, different genetic polymorphisms in humans: (CAG)n POLG1,T3801C CYP1A1 and MTHFR A1298C, and their role as potential risk factors for male infertility in an Algerian population cohort were studied by sequencing or RFLP.
Our results show that the variants described at the MTHFR and CYP1A1 genes are not associated with male infertility unlike that of POLG1 which appears to be involved in this dysfunction.
In the second part of our work, we have prospected qualitative alterations of mitochondrial
genome by analysis of macro-deletions by long PCR and quantitative by quantification of leukocyte mtDNA rate by real-time quantitative PCR (mitochondrial DNA vs nuclear) in idiopathic male infertility. The mtDNA deletion does not appear to be associated with this disorder but the assessment of the level of leukocyte mtDNA likely suggests the involvement of this parameter in male infertility especially in azoospermic and asthenospermic men.
Molecular biology has led to the discovery of unexplored etiologies until now without denigrating the clinical and biological explanatory value of many recognized etiologies.
This mitochondrial molecular appearance misunderstood opens up new perspectives and may in the future introduce profound changes in the genetic approach to male infertility.
Diplôme : Doctorat en sciences En ligne : ../theses/biologie/REZ7000.pdf Format de la ressource électronique : Permalink : https://bu.umc.edu.dz/md/index.php?lvl=notice_display&id=10389 Génétique mitochondriale des infertilités masculines [texte imprimé] / Mohamed Larbi Rezgoune, Auteur ; Dalila Satta, Directeur de thèse ; Abdelhamid Slama, Directeur de thèse . - [S.l.] : جامعة الإخوة منتوري قسنطينة, 2016 . - 187 f. ; 30 cm.
2 copies imprimées disponibles
Langues : Français (fre)
Tags : mitochondrie polymorphisme infertilité masculine biologie moléculaire mitochondria polymorphism male infertility molecular biology ???????????? ???? ??????? ?????? ???????? ??????? ??? ?????? ?????????? ???????? Index. décimale : 570 Sciences de la vie. Biologie Résumé : Mitochondria play a central role in energy metabolism, homeostasis and apoptosis.
These functions are in part under the control of a mitochondrial genome, support of cytoplasmic heredity, whose transmission is only maternal. The involvement of these organelles in human reproduction is a relatively new concept that arouses scientific and medical interest. Abnormalities both qualitative and quantitative of mitochondrial DNA (mtDNA) have been associated with male fertility disorders.
Infertility concerns 10 to 15 % of couples wishing to have a child, a male component is found
in almost half of cases. In a significant proportion of these cases, a known genetic basis,
chromosomal or gene, sometimes transmitted from the parents, is involved.
In this work, in a first part, different genetic polymorphisms in humans: (CAG)n POLG1,T3801C CYP1A1 and MTHFR A1298C, and their role as potential risk factors for male infertility in an Algerian population cohort were studied by sequencing or RFLP.
Our results show that the variants described at the MTHFR and CYP1A1 genes are not associated with male infertility unlike that of POLG1 which appears to be involved in this dysfunction.
In the second part of our work, we have prospected qualitative alterations of mitochondrial
genome by analysis of macro-deletions by long PCR and quantitative by quantification of leukocyte mtDNA rate by real-time quantitative PCR (mitochondrial DNA vs nuclear) in idiopathic male infertility. The mtDNA deletion does not appear to be associated with this disorder but the assessment of the level of leukocyte mtDNA likely suggests the involvement of this parameter in male infertility especially in azoospermic and asthenospermic men.
Molecular biology has led to the discovery of unexplored etiologies until now without denigrating the clinical and biological explanatory value of many recognized etiologies.
This mitochondrial molecular appearance misunderstood opens up new perspectives and may in the future introduce profound changes in the genetic approach to male infertility.
Diplôme : Doctorat en sciences En ligne : ../theses/biologie/REZ7000.pdf Format de la ressource électronique : Permalink : https://bu.umc.edu.dz/md/index.php?lvl=notice_display&id=10389 Exemplaires
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