一例46,X,psu idic(Y)(q12)男性不育患者的遗传学分析  

Genetic analysis of an infertility male with 46,X,psu idic(Y)(q12)

作　　者：杨娜[1] 里进[1] 陈雪薇 马建鸿[2] 刘焰[3] 彭建红 Yang Na;Li Jin;Chen Xuewei;Ma Jianhong;Liu Yan;Peng Jianhong(Department of Laboratory Medicine,Zhongnan Hospital of Wuhan University,Wuhan 430071,Hubei,China;Prenatal Diagnosis Center,Zhongnan Hospital of Wuhan University,Wuhan 430071,Hubei,China;Department of Immunology,School of Basic Medical Sciences,Wuhan University,Wuhan 430071,Hubei,China)

机构地区：[1]武汉大学中南医院检验科,湖北武汉430071 [2]武汉大学中南医院生殖医学中心,湖北武汉430071 [3]武汉大学基础医学院免疫学系,湖北武汉430071

出　　处：《中国男科学杂志》2024年第3期48-53,69,共7页Chinese Journal of Andrology

摘　　要：目的对1例46,X,psu idic(Y)(q12)男性患者进行遗传学分析,探讨其不育症与异常核型的关系。方法应用外周血淋巴细胞培养制备染色体,染色体G带和C带分析患者核型,荧光原位杂交(fluorescence in situ hybridization,FISH)验证Y染色体异常结构,多重荧光PCR检测AZF基因微缺失,高通量测序技术检测染色体非整倍体以及100 kb以上基因组拷贝数变异。结果染色体G带和C带显示该患者核型为46,X,psu idic(Y)(q12);FISH检测证实衍生染色体是idic(Y);多重荧光PCR检测表明SRY基因,AZFa(sY84,sY86)、AZFb(sY127,sY134)、AZFc(sY254,sY255)均没有缺失;高通量测序结果显示Y染色体p11.32q12区带(chrY:1-59373566)重复59.37 Mb,提示存在两条Y染色体。结论核型分析结合FISH和测序技术可以精确确定,idic(Y)的断裂点位于Yq12,46,X,psu idic(Y)(q12)核型可能成为男性重度少精或无精症诊断的细胞遗传指征。Objective To perform genetic analysis on an adult male with a karyotype of 46,X,psu idic(Y)(q12),and explore the correlation between clinical phenotype and karyotype.Methods Peripheral blood lymphocytes were cultured to prepare chromosomes.G-banding was used to analyze the patient's karyotype,and C-banding to verify the heterochromatic region of the Y chromosome.Fluorescence in situ hybridization(FISH)was applied to confirm the abnormal morphology of the Y chromosome,and multiplex fluorescence PCR to detect AZF gene microdeletions.High-throughput sequencing technology was used to examine chromosomal aneuploidies and genomic copy number variations over 100 kb.Results G-banding and C-banding analysis showed that the patient had a karyotype of 46,X,psu idic(Y)(q12),with one functional centromere.FISH analysis confirmed that the derivative chromosome was a Y chromosome with two centromeres.Multiplex fluorescence PCR showed that there were no deletions in SRY gene,AZFa(sY84,sY86),AZFb(sY127,sY134),or AZFc(sY254,sY255).High-throughput sequencing results revealed a duplication of Y chromosome p11.32q12 region(chrY:1-59373566),suggesting the presence of two Y chromosomes.Conclusion Karyotype analysis combined with FISH and sequencing technology can accurately determine that the breakpoint of idic(Y)is located at Yq12.The 46,X,psu idic(Y)(q12)karyotype may be a cellular genetic indication for the diagnosis of severe oligozoospermia or azoospermia in men.

关 键 词：双着丝粒Y染色体 不育 男性 无精子症 

分 类 号：R698.2[医药卫生—泌尿科学] R596.12[医药卫生—外科学]