FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers

Fluorescence in situ hybridization analysis of numerical chromosomal abnormalities in the sperm of Robertsonian translocation der (13;14) (q10;q10) carriers has focused on a limited number of chromosomes mainly on chromosome 13, 18, 21, X, and Y. Here, we aimed to expand the analysis to all chromoso...

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Main Authors: Saijuan Zhu, Yong Zhu, Feng Zhang, Junping Wu, Ying Chen, Yijuan Sun, Jing Fu, Jiangnan Wu, Min Xiao, Shuo Zhang, Jing Zhou, Caixia Lei, Feng Jiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1010568/full
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author Saijuan Zhu
Yong Zhu
Feng Zhang
Junping Wu
Ying Chen
Yijuan Sun
Jing Fu
Jiangnan Wu
Min Xiao
Shuo Zhang
Jing Zhou
Caixia Lei
Feng Jiang
author_facet Saijuan Zhu
Yong Zhu
Feng Zhang
Junping Wu
Ying Chen
Yijuan Sun
Jing Fu
Jiangnan Wu
Min Xiao
Shuo Zhang
Jing Zhou
Caixia Lei
Feng Jiang
author_sort Saijuan Zhu
collection DOAJ
description Fluorescence in situ hybridization analysis of numerical chromosomal abnormalities in the sperm of Robertsonian translocation der (13;14) (q10;q10) carriers has focused on a limited number of chromosomes mainly on chromosome 13, 18, 21, X, and Y. Here, we aimed to expand the analysis to all chromosomes by increasing the number of probes analyzed in fluorescence in situ hybridization. The incidence of numerical abnormalities of all chromosomes (1–22, X, and Y) was determined in sperm from 10 carriers of the Robertsonian translocation der(13;14)(q10;q10) and 10 normozoospermic males to fully assess the effect of translocation-derived chromosome on the segregation of all chromosomes during meiosis. Numerical abnormalities of the two translocated chromosomes were frequently detected in the sperm of der (13;14) translocation carriers, with an average frequency of 14.55% ± 6.00% for chromosome 13 and 13.27% ± 4.14% for chromosome 14. Numerical abnormalities of nontranslocated chromosomes, with an average frequency of 1.77% ± 0.62% (range, 1.16%–3.73%), was lower than that of translocated chromosome. However, the cumulative numerical abnormality of the 22 nontranslocated chromosomes was comparable to that of the two translocated chromosomes. Significantly increased numerical abnormalities in der(13;14) translocation carriers compared with those in normozoospermic males indicates the presence of translocation-derived chromosome disturbances, with translocated chromosomes being most affected; nontranslocated chromosomes were also affected, but to a lesser extent due to a mild interchromosomal effect.
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spelling doaj.art-a79152dcbc2c47f8a1f680ea27b5d8262022-12-22T04:25:58ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-09-011310.3389/fgene.2022.10105681010568FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriersSaijuan Zhu0Yong Zhu1Feng Zhang2Junping Wu3Ying Chen4Yijuan Sun5Jing Fu6Jiangnan Wu7Min Xiao8Shuo Zhang9Jing Zhou10Caixia Lei11Feng Jiang12Laboratory of Genetics, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaHuman Sperm Bank, Fudan University, Shanghai, ChinaHuman Sperm Bank, Fudan University, Shanghai, ChinaLaboratory of Genetics, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaLaboratory of Andrology, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaLaboratory of Embryology, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaLaboratory of Embryology, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaDepartment of Clinical Epidemiology, Clinical Research Unit, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, ChinaLaboratory of Genetics, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaLaboratory of Genetics, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaLaboratory of Genetics, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaLaboratory of Genetics, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaHuman Sperm Bank, Fudan University, Shanghai, ChinaFluorescence in situ hybridization analysis of numerical chromosomal abnormalities in the sperm of Robertsonian translocation der (13;14) (q10;q10) carriers has focused on a limited number of chromosomes mainly on chromosome 13, 18, 21, X, and Y. Here, we aimed to expand the analysis to all chromosomes by increasing the number of probes analyzed in fluorescence in situ hybridization. The incidence of numerical abnormalities of all chromosomes (1–22, X, and Y) was determined in sperm from 10 carriers of the Robertsonian translocation der(13;14)(q10;q10) and 10 normozoospermic males to fully assess the effect of translocation-derived chromosome on the segregation of all chromosomes during meiosis. Numerical abnormalities of the two translocated chromosomes were frequently detected in the sperm of der (13;14) translocation carriers, with an average frequency of 14.55% ± 6.00% for chromosome 13 and 13.27% ± 4.14% for chromosome 14. Numerical abnormalities of nontranslocated chromosomes, with an average frequency of 1.77% ± 0.62% (range, 1.16%–3.73%), was lower than that of translocated chromosome. However, the cumulative numerical abnormality of the 22 nontranslocated chromosomes was comparable to that of the two translocated chromosomes. Significantly increased numerical abnormalities in der(13;14) translocation carriers compared with those in normozoospermic males indicates the presence of translocation-derived chromosome disturbances, with translocated chromosomes being most affected; nontranslocated chromosomes were also affected, but to a lesser extent due to a mild interchromosomal effect.https://www.frontiersin.org/articles/10.3389/fgene.2022.1010568/fullinter-chromosomal effectrobertsonian translocationspermatozoameiotic segregationaneuploidy
spellingShingle Saijuan Zhu
Yong Zhu
Feng Zhang
Junping Wu
Ying Chen
Yijuan Sun
Jing Fu
Jiangnan Wu
Min Xiao
Shuo Zhang
Jing Zhou
Caixia Lei
Feng Jiang
FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers
Frontiers in Genetics
inter-chromosomal effect
robertsonian translocation
spermatozoa
meiotic segregation
aneuploidy
title FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers
title_full FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers
title_fullStr FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers
title_full_unstemmed FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers
title_short FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers
title_sort fish analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der 13 14 q10 q10 carriers
topic inter-chromosomal effect
robertsonian translocation
spermatozoa
meiotic segregation
aneuploidy
url https://www.frontiersin.org/articles/10.3389/fgene.2022.1010568/full
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