Abnormal meiotic recombination with complex chromosomal rearrangement in an azoospermic man

被引：11

作者：

Wang, Liu ^{[1
,2
]}

Iqbal, Furhan ^{[1
,2
,3
]}

Li, Guangyuan ^{[4
]}

Jiang, Xiaohua ^{[1
,2
]}

Bukhari, Ihtisham ^{[1
,2
]}

Jiang, Hanwei ^{[1
,2
]}

Yang, Qingling ^{[1
,2
]}

Zhong, Liangwen ^{[1
,2
]}

Zhang, Yuanwei ^{[1
,2
]}

Hua, Juan ^{[1
,2
]}

Cooke, Howard J. ^{[5
]}

Shi, Qinghua ^{[1
,2
]}

机构：

[1] Univ Sci & Technol China, Hefei Natl Lab Phys Sci Microscale, Hefei 230026, Anhui, Peoples R China

[2] Univ Sci & Technol China, Sch Life Sci, Hefei 230026, Anhui, Peoples R China

[3] Bahauddin Zakariya Univ, Div Zool, Inst Pure & Appl Biol, Multan 60800, Pakistan

[4] Anhui Med Univ, Affiliated Hosp 4, Dept Urol, Hefei, Anhui, Peoples R China

[5] Western Gen Hosp, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

来源：

REPRODUCTIVE BIOMEDICINE ONLINE | 2015年 / 30卷 / 06期

基金：

中国国家自然科学基金;

关键词：

complex chromosomal rearrangements; infertility; recombination; synaptonemal complex; transcriptional inactivation; X-CHROMOSOME; TRANSLOCATION; INACTIVATION; ORIGIN; FISH;

D O I：

10.1016/j.rbmo.2015.02.015

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Spermatocyte spreading and immunostaining were applied to detect meiotic prophase I progression, homologous chromosome pairing, synapsis and recombination in an azoospermic reciprocal translocation 46, XY, t(5;7;9;13)(5q11;7p11;7p15;9q12;13p12) carrier. Histological examination of the haematoxylin and eosin stained testicular sections revealed reduced germ cells with no spermatids or sperm in the patient. TdT (terminal deoxynucleotidyl transferase)-mediated dUDP nick-end labelling assay showed apoptotic cells in testicular sections of translocation carrier. Immnunofluorescence analysis indicated the presence of an octavalent in all the pachytene spermatocytes analysed in the patient. Meiotic progression was disturbed, as an increase in zygotene (P < 0.001) and decrease in the pachytene spermatocytes (P < 0.001) were observed in the t(5;7;9;13) carrier compared with controls. It was further observed that 93% of octavalents were found partially asynapsed between homologous chromosomes. A significant decrease in the recombination frequency was observed on 5p, 5q, 7q, 9p and 13q in the translocation carrier compared with the reported controls. A significant reduction in XY recombination frequency was also found in the participants. Our results indicated that complex chromosomal rearrangements can impair synaptic integrity of translocated chromosomes, which may reduce chromosomal recombination on translocated as well as non-translocated chromosomes, a phenomenon commonly known as interchromosomal effect. (C) 2015 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

引用

页码：651 / 658

页数：8

共 33 条

[11] Complex chromosomal rearrangement and intracytoplasmic sperm injection:: A Case Report [J].