Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidence of an interchromosomal effect

Machev, Nadejda; Gosset, Philippe; Warter, S.; Treger, Michèle; Schillinger, Monique; Viville, Stéphane

doi:10.1016/j.fertnstert.2005.03.026

Cited by 45 publications

(42 citation statements)

References 39 publications

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“…Indeed, the 326 npg mispairing of translocated chromosomes during the first meiotic division can give rise to different forms of segregation, which can result in aneuploidy of the translocated chromosomes [2]. As a general rule, recip rocal translocation carriers produce more unbalanced spermatozoa than normal or balanced spermatozoa [3].…”

Section: Introductionmentioning

confidence: 99%

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18, X, Y aneuploidies and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations

Moretti¹,

Pascarelli²,

Giannerini³

et al. 2009

Asian J Androl

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We analysed ejaculated spermatozoa from five infertile men with different balanced reciprocal translocations to contribute to the study of meiotic segregation of chromosomes 18, X and Y and also to evaluate sperm morphology by transmission electron microscopy (TEM) analysis. Conventional lymphocyte karyotype analyses highlighted dif ferent reciprocal balanced translocations: t(12;13), t(4;9), t(X;8), t(8;10) and t(3;16). Semen analysis was performed by light and TEM. Fluorescence in situ hybridization was performed directly on sperm nuclei using centromeric probes for chromosomes 18, X and Y. The carriers of the balanced reciprocal translocations considered in the pres ent study showed a very similar pattern of sperm pathologies: diffused presence of apoptosis and immaturity. All patients showed meiotic segregation derangements, highlighted by the presence of sperm diploidies and sex chro mosome disomies particularly related to the failure of the first meiotic division. However, an increased incidence of chromosome 18 aneuploidy was detected in spermatozoa from t(X;8) and t(8;10) carriers. We have also reported values from sex chromosomes such as t(X;8), although the X chromosome was involved in translocation. Since pa tients with reciprocal translocations and spermatogenetic impairment are candidates for intracytoplasmic sperm in jection cycles, the study of sperm parameters, and particularly of the level of aneuploidy rates, would provide better information for couples at risk and would contribute to the data in the literature for a better understanding of the ef fects of chromosomal rearrangement on the whole meiotic process and, in particular, on chromosomes not involved in translocation.

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Section: Introductionmentioning

confidence: 99%

“…The issue of ICE is still very controversial because this effect has been found by some authors [2,6,7], but not by others [5,8]. Shi and Martin [9] and Douet Guilbert et al [10] reviewed the literature and concluded that ICE is present on some specific chromosomes in sper matozoa from men who are translocation carriers.…”

Section: Introductionmentioning

confidence: 99%

18, X, Y aneuploidies and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations

Moretti¹,

Pascarelli²,

Giannerini³

et al. 2009

Asian J Androl

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“…According to the literature, this is one of the factors that increases the chance of having baby with aneuploidy due to fact that the maternal one of the parents might be a carrier for translocation chromosome [22,23].…”

Section: Discussionmentioning

confidence: 99%

Methyl Tetra Hydro Folate Reductase Enzyme Polymorphism in the Mothers with Previous Autosomal Aneuploidy Birth in the Indigenous African Population of Northern Region of South Africa

Duma¹,

Khine²

2017

J Down Syndr Chr Abnorm

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IntroductionAneuploidy is a genetic disorder where the total number of chromosomes is either less or more than the normal diploid number of 46, XX or 46, XY [1]. The most common aneuploidies in South Africa caused by autosomal chromosomal abnormalities include Down syndrome (Trisomy 21), Edward syndrome (Trisomy 18) and Patau syndrome (Trisomy 13). Globally the incidence for Down syndrome is about 1 in 650 to 1000 live births [2], Edward syndrome is 1 in 6000 live birth [3], and Patau is between 1 in 5000 to 29000 live birth [4]. Currently the prevalence rate is 1 out of 500 live birth for Down syndrome in South Africa with 1886 new cases diagnosed every year [5] and for Edward syndrome the prevalence is 1 in 4000 live birth and Patau is 1 in 8889 live birth [6,7]. The aetiology of these autosomal aneuploidies are believed to be due to non-disjunction of chromosome in maternal ovum during meiosis which is thought to be a sporadic, incidental event usually associated with older age group mothers. Notably, there is an increased incidence of aneuploidy babies has been observed in younger age group mothers with less than 35 years of age in South African black population [8].There were studies done in the Middle East families with recurrence aneuploidy births to determine if there is a genetic link. Krishna Murthy and Farag reported two unrelated Kuwaiti families each having 3 siblings with trisomy 21 as a result the researchers suggested that some genetic predisposition and gonadal mosaicism could be the underlying cause of recurrent aneuploidy in the younger mothers, thus increasing the risk of recurrence of such pregnancies [9]. There were studies that found that a particular polymorphism of one of these genes Methylenetetrahydrofolate reductase (MTHFR) might be a maternal risk factor for having child with Aneuploidy or Down syndrome and that a significant increase in plasma homocysteine levels exists in mothers of the children with Aneuploidy or Down syndrome [10,11].Increased homocysteine may result from dietary deficiency of folate and or vitamin B12 or from genetic polymorphism of Methylenetetrahydrofolate reductase (MTHFR). These genes encode the enzymes involved in the transfer of methyl group from sulpha containing amino acids (homocysteine and cysteine). Decreased transfer results in decrease methylation of DNA around the centromere region of chromosome 21, 18 and 13 proposed to be leading to aneuploidy. This hypothesis has led many researchers to further explore the evidence between DNA methylation of chromosome 21, 18, 13 in the unfertilized ovum but due to invasive nature of method involved in acquiring the pre-implementation studies, it has not been proven [10,[12][13][14][15][16].Indirect evidence of younger mothers having high level of plasma homocysteine with or without genetic polymorphisms would be the closest link to identifying the risk of recurrence aneuploidy in the AbstractBackground and purpose of the study: Aneuploidy births are highly prevalent in our population and some families, recurre...

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“…However, it cannot be excluded that CCR carriers are more prone to exhibit ICE because of the substantially high numbers of chromosomes involved in rearrangement, especially with regard to the ongoing debate on the influence of chromosomal rearrangements on the proper meiotic behaviour of other chromosomes. It has also been documented that increased aneuploidy rates can be present in spermatozoa of males with decreased sperm seminological parameters (OAT -oligo-, astheno-, teratozoospermia) (Hristova et al 2002, Tempest & Griffin 2004, Machev et al 2005, Miharu 2005, Rives 2005, Tang et al 2010. A large majority of findings indicate a well-defined link between ICE presence and oligozoospermia, while no such clear association has been observed in cases of astheno-or teratozoospermia (Tempest & Griffin 2004, Machev et al 2005, Miharu 2005, Rives 2005).…”

Section: Discussionmentioning

confidence: 99%

Sperm FISH and chromatin integrity in spermatozoa from a t(6;10;11) carrier

Olszewska

Huleyuk²,

Frączek³

et al. 2014

Reproduction

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Complex chromosome rearrangements (CCRs) are structurally balanced or unbalanced aberrations involving more than two breakpoints on two or more chromosomes. CCRs can be a potential reason for genomic imbalance in gametes, which leads to a drastic reduction in fertility. In this study, the meiotic segregation pattern, aneuploidy of seven chromosomes uninvolved in the CCR and chromatin integrity were analysed in the ejaculated spermatozoa of a 46,XY,t(6;10;11)(q25.1;q24.3;q23.1)mat carrier with asthenozoospermia and a lack of conception. The frequency of genetically unbalanced spermatozoa was 78.8% with a prevalence of 4:2 segregants of 38.2%, while the prevalence of the adjacent 3:3 mode was 35.3%. Analysis of the aneuploidy of chromosomes 13, 15, 18, 21, 22, X and Y revealed an approximately fivefold increased level in comparison with that of the control group, indicating the presence of an interchromosomal effect. Sperm chromatin integrity status was evaluated using chromomycin A3 and aniline blue staining (deprotamination), acridine orange test and TUNEL assay (sperm DNA fragmentation). No differences were found when comparisons were made with a control group. We suggest that the accumulation of genetically unbalanced spermatozoa, significantly increased sperm aneuploidy level and decreased sperm motility (20%, progressive) were not responsible for the observed lack of reproductive success in the analysed infertile t(6;10;11) carrier. Interestingly, in the case described herein, a high level of sperm chromosomal imbalance appears not to be linked to sperm chromatin integrity status.

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Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidence of an interchromosomal effect

Cited by 45 publications

References 39 publications

18, X, Y aneuploidies and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations

18, X, Y aneuploidies and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations

Methyl Tetra Hydro Folate Reductase Enzyme Polymorphism in the Mothers with Previous Autosomal Aneuploidy Birth in the Indigenous African Population of Northern Region of South Africa

Sperm FISH and chromatin integrity in spermatozoa from a t(6;10;11) carrier

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