异性骨髓移植后无精症患者Y染色体的检测

doi:10.3969/j.issn.1673-8640.2018.02.014

检验医学 ›› 2018, Vol. 33 ›› Issue (2): 160-162.DOI: 10.3969/j.issn.1673-8640.2018.02.014

异性骨髓移植后无精症患者Y染色体的检测

胡莹¹, 梁先念¹, 于建红², 覃凌云², 王玉明¹

1.昆明医科大学第二附属医院检验科,云南昆明 650101
2.昆明医科大学第二附属医院男性科,云南昆明 650101;

收稿日期:2016-10-21 出版日期:2018-02-28 发布日期:2018-03-02
作者简介:null
作者简介：胡莹,女,1977年生,硕士,副主任医师,主要从事临床分子生物学研究。

Y chromosome detection for an azoospermia patient after sex-mismatched bone marrow transplantation

HU Ying¹, LIANG Xiannian¹, YU Jianhong², QIN Lingyun², WANG Yuming¹

1. Department of Clinical Laboratory,the Second Affiliated Hospital of Kunming Medical University,Kunming 650101,Yunnan,China
2. Department of Male Health,the Second Affiliated Hospital of Kunming Medical University,Kunming 650101,Yunnan,China;

Received:2016-10-21 Online:2018-02-28 Published:2018-03-02

摘要/Abstract

摘要：

目的报道异性骨髓移植后无精症患者1例,分析其Y染色体检测结果。方法采集该患者外周血样本。按人类细胞遗传学国际命名体制（ISCN）（2005）进行外周血染色体核型分析;运用多重聚合酶链反应（PCR）进行外周血及口腔黏膜拭子Y染色体AZF区微缺失检测;使用化学发光法检测血清生殖激素。结果该患者外周血染色体核型分析结果为46xx;外周血AZF区位点均缺失,口腔黏膜拭子AZF区位点均存在;卵泡刺激素及孕酮水平升高。结论 Y染色体AZF区微缺失是精子缺陷和男性不育的主要遗传因素之一,应对无精症和严重少精症患者进行AZF区微缺失筛查。异性骨髓移植成功患者细胞遗传学常表现为嵌合状态,当此类无精症患者外周血Y染色体AZF区微缺失时,应同时进行体细胞Y染色体AZF区微缺失检测,为明确无精症原因提供依据。

关键词: Y染色体, AZF区微缺失, 无精症, 异性骨髓移植

Abstract:

Objective To report a case of azoospermia after sex-mismatched bone marrow transplantation,and to analyze the results of Y chromosome detection. Methods Peripheral blood was collected. Chromosome karyotype analysis was performed according to an International System for Human Cytogenetic Nomenclature（ISCN）（2005）. Oral mucosa swab and peripheral blood AZF microdeletions of Y chromosome were detected by multiplex polymerase chain reaction（PCR）. Serum gonadal hormone levels were determined by chemiluminescence. Results The result of chromosome karyotype analysis was 46xx. The deletion was found for all AZF sites in peripheral blood,but the AZF sites in oral mucosa swab all existed. The levels of follicle-stimulating hormone and progesterone were increased. Conclusions AZF microdeletion of Y chromosome may be associated with sperm defect and male infertility. The detection of AZF microdeletion of Y chromosome should be used for azoospermia and oligospermia patients. Since chimerism,it is important to detect AZF microdeletion of Y chromosome both in peripheral blood and somatic cells for azoospermia patients after sex-mismatched bone marrow transplantation.

Key words: Y chromosome, AZF microdeletion, Azoospermia, Sex-mismatched bone marrow transplantation

中图分类号:

Q343.2

胡莹, 梁先念, 于建红, 覃凌云, 王玉明. 异性骨髓移植后无精症患者Y染色体的检测[J]. 检验医学, 2018, 33(2): 160-162.

HU Ying, LIANG Xiannian, YU Jianhong, QIN Lingyun, WANG Yuming. Y chromosome detection for an azoospermia patient after sex-mismatched bone marrow transplantation[J]. Laboratory Medicine, 2018, 33(2): 160-162.

图/表 2

图1 外周血染色体核型分析结果

图2 Y染色体AZF区微缺失多重PCR扩增产物电泳图注：M为Marker（100 bp）;N为阴性对照;1为阳性对照AZFa区sy84、sy86;2为阳性对照AZFb区sy127、sy134;3为阳性对照AZFc区sy254、sy255;4为阳性对照AZFd区sy145、sy152;5为口腔黏膜拭子AZFa区sy84、sy86;6为口腔黏膜拭子AZFb区sy127、sy134;7为口腔黏膜拭子AZFc区sy254、sy255;8为口腔黏膜拭子AZFd区sy145、sy152;9为外周血AZFa区sy84、sy86;10为外周血AZFb区sy127、sy134;11为外周血AZFc区sy254、sy255;12为外周血AZFd区sy145、sy152

参考文献 9

[1]	SHAFFER L G. ISCN 2005:an International System of Human Cytogenetic Nomenclature(2005)[Z]. 2005.
[2]	PLOTTON I,GISCARD D'ESTAING S,CUZIN B,et al. Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome[J]. J Clin Endocrinol Metab,2015,100(3):961-967.
[3]	FORESTA C,FERLIN A,GIANAROLI L,et al.Guidelines for the appropriate use of genetic tests in infertile couples[J]. Eur J Hum Genet,2002,10(5) :303-312.
[4]	SKALETSKY H,KURODA-KAWAGUCHI T,MINX P J,et al.The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes[J]. Nature,2003,423(6942):825-837.
[5]	滕贤麟,施金俏,郭辉,等. 无精症及严重少精症患者染色体核型和Y染色体微缺失分析[J]. 检验医学,2014,29(12):1212-1214.
[6]	杨慧敏,陈国武. 上海地区原发性男性不育症患者Y染色体AZF基因微缺失的检测[J]. 检验医学,2012,27(6):479-481.
[7]	赵慧佳,顾志冬,程蔚蔚,等. 上海地区汉族人群STR位点的选择和优化[J]. 检验医学,2016,31(9):787-791.
[8]	KRAUSZ C,HOEFSLOOT L,SIMONI M,et al.EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions:state-of-the-art 2013[J]. Andrology,2014,2(1):5-19.
[9]	ENDLER G,GREINIX H,WINKLER K,et al.Genetic fingerprinting in mouthwashes of patients after allogeneic bone marrow transplantation[J]. Bone Marrow Transplant,1999,24(1):95-98.

异性骨髓移植后无精症患者Y染色体的检测

Y chromosome detection for an azoospermia patient after sex-mismatched bone marrow transplantation

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