Effect of carriers' sex on meiotic segregation patterns and chromosome stability of reciprocal translocations

Lin, Liuyan; Chen, Xueyao; Wang, Jing; Li, Rong; Ding, Chenhui; Cai, Bing; Zhou, Canquan; Xu, Yanwen

doi:10.1016/j.rbmo.2021.08.017

Cited by 9 publications

(5 citation statements)

References 32 publications

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“…Several groups reported a lower frequency of alternate segregation in RT carriers when acrocentric chromosomes are involved in the translocation compared with non-acrocentric [ 10 , 13 , 14 , 21 ]. In our analysis, this effect is confirmed as carriers with translocations involving acrocentric chromosomes have a modest but significant reduction in balanced sperm.…”

Section: Discussionmentioning

confidence: 99%

“…Several studies tried to link the greater risk of chromosomal unbalance with the age and sex of the carriers [ 12 , 13 , 14 ], the sperm parameters [ 15 , 16 ], or the type of chromosome involved in the translocation [ 10 , 17 ]. Because of the paucity of patients in many of them (mean of 3.6 patients per study with only 2 including more than 12 patients [ 15 , 18 ]), these studies obtained conflicting results.…”

Section: Introductionmentioning

confidence: 99%

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Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

Llano

Perrin

Morel

et al. 2023

IJMS

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Reciprocal translocation (RT) carriers produce a proportion of unbalanced gametes that expose them to a higher risk of infertility, recurrent miscarriage, and fetus or children with congenital anomalies and developmental delay. To reduce these risks, RT carriers can benefit from prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD). Sperm fluorescence in situ hybridization (spermFISH) has been used for decades to investigate the sperm meiotic segregation of RT carriers, but a recent report indicates a very low correlation between spermFISH and PGD outcomes, raising the question of the usefulness of spermFISH for these patients. To address this point, we report here the meiotic segregation of 41 RT carriers, the largest cohort reported to date, and conduct a review of the literature to investigate global segregation rates and look for factors that may or may not influence them. We confirm that the involvement of acrocentric chromosomes in the translocation leads to more unbalanced gamete proportions, in contrast to sperm parameters or patient age. In view of the dispersion of balanced sperm rates, we conclude that routine implementation of spermFISH is not beneficial for RT carriers.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

Llano

Perrin

Morel

et al. 2023

IJMS

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“…In addition, genome-wide haplotype analysis can be used to characterize extensive chromosomal aberrations in the whole genome, as well as the parental origin and the occurrence period of various chromosomal errors. This is not possible with PGT-A, which only performs copy number analysis [22][23][24]. Furthermore, chromosomal ploidy errors can also interfere with our judgment of target gene variations.…”

Section: Discussionmentioning

confidence: 99%

A comprehensive preimplantation genetic testing approach for SEA-type α-thalassemia by fluorescent Gap-polymerase chain reaction combined with haplotype analysis

Wang¹,

Ma²,

Guo³

et al. 2023

Preprint

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Purpose This study aims to evaluate the feasibility and necessity of using fluorescence Gap-polymerase chain reaction (PCR) combined with haplotype analysis in preimplantation genetic testing (PGT) for SEA-type α-thalassemia.Methods Twenty-six PGT biopsy cycles were performed in 25 families from June 2021 to February 2022. All couples were carriers of the SEA-type α-thalassemia. Fluorescent Gap-PCR was employed for fragment deletion detection. Subsequently, according to the PCR results, reference embryos were identified to establish haplotype using single nucleotide polymorphic (SNP) array, while aneuploidy was screened simultaneously. In the cases that PCR results were inconsistent with the haplotype results, the reasons were investigated, either by re-test of the biopsied samples or re-biopsy of the embryo.Results Among 172 embryos, 162 had a consistent result tested by both methods, leading to a consistency rate of 94.2%. Ten embryos had inconsistent results, which were mainly due to chromosome 16 aneuploidy (n = 7), allele drop-out (ADO) in Gap-PCR (n = 2), or incorrectly haplotype due to poor sample amplification quality (n = 1). Clinical pregnancy rate of each frozen-thawed embryo transfer (FET) was 57.7% (15/26). Six families underwent prenatal diagnosis, which confirmed the PGT results.Conclusions Fluorescent Gap-PCR combined with haplotype analysis is feasible and necessary for SEA-type α-thalassemia PGT.

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“…Furthermore, genome-wide haplotype analysis can be employed to characterize extensive chromosomal aberrations in the whole genome as well as the parental origin and occurrence period of various chromosomal errors. This is not possible with PGT-A, in which only copy number analysis is conducted (David et al, 2019;Lin et al, 2021;Olga et al, 2021). In addition, chromosomal ploidy errors can interfere with our judgment of target gene variations.…”

Section: Discussionmentioning

confidence: 99%

A comprehensive preimplantation genetic testing approach for SEA-type α-thalassemia by fluorescent gap-polymerase chain reaction combined with haplotype analysis

Wang,

Ma,

Guo

et al. 2023

Front. Genet.

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Introduction: This study aimed to evaluate the feasibility and necessity of using fluorescence Gap-polymerase chain reaction combined with haplotype analysis in preimplantation genetic testing for SEA-type α-thalassemia.Methods: A total of 26 preimplantation genetic testing biopsy cycles were performed in 25 families from June 2021 to February 2022. All couples were carriers of SEA-type α-thalassemia. Fluorescent Gap-polymerase chain reaction was used for detecting fragment deletion. Subsequently, according to the results of polymerase chain reaction, reference embryos were identified to establish haplotype using single nucleotide polymorphism array, and aneuploidy was screened simultaneously. In cases wherein the polymerase chain reaction results were inconsistent with the haplotype results, the reasons were investigated, either by retest of the biopsied samples or rebiopsy of the embryo.Results: Among the 172 embryos, 162 had consistent results when tested using both methods, resulting in a consistency rate of 94.2%. Conversely, 10 embryos had inconsistent results, mainly due to chromosome 16 aneuploidy (n = 7), allele dropout in Gap-polymerase chain reaction (n = 2), or incorrect haplotype due to poor sample amplification quality (n = 1). The clinical pregnancy rate of each frozen-thawed embryo transfer was 57.7% (15/26). Six families underwent prenatal diagnosis, which confirmed the results of preimplantation genetic testing.Conclusion: Fluorescent Gap-polymerase chain reaction combined with haplotype analysis is feasible and necessary for SEA-type α-thalassemia preimplantation genetic testing.

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Effect of carriers' sex on meiotic segregation patterns and chromosome stability of reciprocal translocations

Cited by 9 publications

References 32 publications

Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

A comprehensive preimplantation genetic testing approach for SEA-type α-thalassemia by fluorescent Gap-polymerase chain reaction combined with haplotype analysis

A comprehensive preimplantation genetic testing approach for SEA-type α-thalassemia by fluorescent gap-polymerase chain reaction combined with haplotype analysis

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