Meiotic segregation analysis by FISH investigations in sperm and spermatocytes of translocation heterozygotes

Armstrong, Susan J.; Hultén, Maj

doi:10.1038/sj.ejhg.5200209

Cited by 19 publications

(11 citation statements)

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“…In the presence of an odd number of interstitial recombinations, half of the meiotic outcomes produced by either alternate or adjacent 1 segregation are going to be indistinguishable from the meiotic products produced also by either alternate or adjacent 1 segregation in the absence of interstitial recombination (Fig. 1) (Armstrong and Hultén, 1998). Nevertheless, when frequencies of each segregation type are considered, the effect of interstitial recombination can be overlooked, since the randomness of this event should compensate for this recombination (Oliver-Bonet et al, 2002).…”

Section: Reciprocal Translocation Segregation Studies By Human-hamstementioning

confidence: 99%

Segregation of chromosomes in sperm of reciprocal translocation carriers: a review

Benet

Oliver-Bonet

Cifuentes

et al. 2005

Cytogenet Genome Res

104

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Reciprocal translocations, the most frequent structural aberration in humans, are mainly transmitted by one of the parents. In order to analyze the chromosomal content of the spermatozoa from carriers of chromosomal reorganizations, two methods have been used, karyotyping of sperm chromosomes by the human-hamster system and fluorescence in situ hybridization (FISH) in decondensed sperm nuclei. In this work, we review 92 sperm chromosome segregation studies from 85 different reciprocal translocation carriers, including a triple translocation carrier. Using the human-hamster method, a total of 5,818 spermatozoa from 44 reciprocal translocation carriers have been analyzed, 43 of them carrying a single reciprocal translocation and one was a carrier of a double reciprocal translocation. A segregation analysis in a carrier of a t(2;22;11) has been also reported. Carrying out FISH in sperm nuclei, a total of 237,042 spermatozoa from 46 reciprocal translocation carriers have been analyzed. Six of these were also analyzed by the human-hamster system. Taking into account both methods, a total of 76 different reciprocal translocations have been studied. In 74 of these 76 translocations, the reorganization occurs between autosomes, and in the other two, the Y chromosome is involved. Although along general lines, there are similarities between the results obtained by the two methods of analysis, variations are observed when the distribution of the different types of segregations that produce imbalances is compared. As a general rule reciprocal translocation carriers produce more unbalanced sperm than normal or balanced sperm. The results reported also corroborate that the proportion of unbalanced forms depends on the characteristics of the reorganization and that it varies widely. Thus the importance of performing a detailed meiotic behavior analysis for each particular translocation in order to obtain enough information to give adequate genetic counseling is stressed. Aspects as to the possible overestimation of 3:1 segregations or the presence of interchromosomal effects still need to be elucidated.

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Section: Reciprocal Translocation Segregation Studies By Human-hamstementioning

confidence: 99%

Segregation of chromosomes in sperm of reciprocal translocation carriers: a review

Benet

Oliver-Bonet

Cifuentes

et al. 2005

Cytogenet Genome Res

104

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“…11 -14 These studies have generated some data on segregation mode frequencies in male carriers. However, as noted by Armstrong and Hulten, 15 sperm chromosome studies cannot differentiate unambiguously between alternate and adjacent-1 segregation modes, as chiasmata in the interstitial segments of the translocation chromosomes may produce asymmetric dyads, thereby affecting the spectrum of gametes arising from each mode. These authors found that such chiasmata occurred with a high frequency in the four translocations they had investigated, and pointed out that there is in fact no test currently available for the rigorous discrimination of alternate and adjacent-1 segregation.…”

Section: Introductionmentioning

confidence: 99%

Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos

Ogilvie

Scriven

2002

Eur J Hum Genet

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Chromosomes involved in reciprocal translocations form quadrivalents at meiosis. These quadrivalents segregate, with or without recombination, to give 32 different meiotic outcomes, only two of which are normal or balanced. This paper presents data collected from 25 cycles of preimplantation genetic diagnosis for 18 couples carrying 15 different reciprocal translocations. Embryos were tested using fluorescence in situ hybridisation with probes for the translocated and centric segments. Overall, 47.7% (71 out of 149) of embryos tested showed signal patterns consistent with alternate segregation, 24.8% adjacent-1 segregation, 10.1% adjacent-2 segregation, 15.4% 3 : 1 segregation and 2% 4 : 0 segregation. For most translocations, alternate segregation was apparently the most frequent mode. Alternate and adjacent-1 frequencies were similar in male and female carriers; however, 5.7% of embryos from female translocation carriers showed adjacent-2 segregation and 20.0% showed 3 : 1 segregation, whilst the corresponding figures for male carriers were 20.5 and 4.5%. Overall, 2.8% of embryos were mosaic and 2.3% of embryos showed chaotic constitutions for the chromosomes tested. The pregnancy success rate for these 25 cycles was 38.8% per embryo transfer and also 38.8% per couple.

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“…An attractive alternative of the FISH analyses on sperms would be a FISH on the patients´ meiotic chromosomes in pachytene spermatocytes extracted from the patientst esticular biopsies [46,47]. A FISH sperm analysis may then not be needed because the risk for sperm chromosome aneuploidies can be deduced from the severity of the observed distortions in the meiotic chromosomes segregation pictures.…”

Section: Fig (2)mentioning

confidence: 99%

Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

Vogt¹

2004

CPD

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Genetic lesions causing human male infertility are manifold. Besides gross chromosomal aneuploidies and rearrangements, microdeletions and single gene defects can interfere with male fertility. Male fertility is not only dependent on genes controlling the male germ line but also on genes of the networks functional for male gonad development and male somatic development, respectively. It is popular to unravel these netweorks with mouse gene knock-out mutants displaying reproductive defects. However, substantial arguments can be given for more functional studies directly on the human genes, because multiple reproductive proteins evolve quickly most likely for adopting to the specific needs of the species class. Prominent examples are mutations of the FSHR gene causing different pathologies in mouse and human and the DAZ gene family not found in the mouse genome but in the human genome with an essential male fertility function. Therefore this review is focussed on a comprehensive overview of human genes known with mutations causing male infertility (AR; AZF gene families; CFTR, DM-1, DNAH gene family, FGFR1, FSHR, INSL3, KAL-1, LGR8-GREAT, LHR, POLG). Then some human genes are described well recognised as functional in spermatogenesis and male fertility although gene specific mutations causing infertility were not yet identified (CREM, CDY1, DAZL1, PHGPx, PRM-1, PRM-2). They are designated as "spermatogenesis phase marker" or "male fertility index" genes, because they are useful tools for diagnosing the patient´s´ spermatogenesis disruption phase and for predicting the presence and quality of his mature sperms. Current therapeutic protocols for human male infertility do usually not cure the specific gene defect but try to bypass it using Artificial Reproductive Technology (ART). Putative imprinting defects in the early embryo probably associated with the used ART protocol and an increase of chromosome abnormalities in the ART offspring now strongly asks for a significant improvement of this outcome requesting urgently more basic research on the genes functioning in the human male germ line and during early human embryogenesis.

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Meiotic segregation analysis by FISH investigations in sperm and spermatocytes of translocation heterozygotes

Abstract: It has been repeatedly claimed that in translocation heterozygotes information on meiotic analysis may be obtained via sperm investigations, either by karyotyping (for reviews see Martin,

Cited by 19 publications

References 5 publications

Segregation of chromosomes in sperm of reciprocal translocation carriers: a review

Segregation of chromosomes in sperm of reciprocal translocation carriers: a review

Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos

Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

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