1例嵌合型Klinefelter综合征患者细胞与分子遗传学研究  

Cytogenetics and Y chromosome AZF microdeletions in infertile patients with mosaic karyotype Klinefelfer syndrome(46,XY/47,XXY/48,XXYY/49,XXXXY)

作　　者：田莉[1] 张建武[2] 沈长新[1] 杜艳[1] 周新[3] 

机构地区：[1]武汉大学中南医院输血科,湖北武汉430071 [2]武汉大学中南医院检验科,湖北武汉430071 [3]武汉大学中南医院科研中心,湖北武汉430071

出　　处：《中华男科学杂志》2012年第6期545-550,共6页National Journal of Andrology

摘　　要：目的:观察嵌合型Klinefelter综合征的外周血染色体、Y染色体上SRY基因和AZF基因微缺失发生情况。方法:对1例嵌合型Klinefelter综合征患者及父母进行外周血染色体核型分析,确定9个实验用序列标签位点(STS),分别是:sY84、sY86、sY127、sY129、sY134、sY254、sY255、sY242、sY152,同时检测SRY基因,并以X/Y连锁锌指蛋白基因(ZFX/ZFY)为内对照进行多重PCR筛查AZF微缺失。结果:患者核型为46,XY/47,XXY/48,XXYY/49,XXXXY,其中48,XXYY占56%;47,XXY占30%;46,XY占12%;49,XXXXY占2%,患者父母核型正常;患者及父母SRY基因检测与染色体性别一致,患者检出Y染色体AZF微缺失,缺失位点为sY86和sY127,缺失类型为AZFa+AZFb缺失。结论:Klinefelter综合征患者存在Y染色体AZF微缺失,染色体核型分析和Y染色体AZF微缺失是Klinefelter综合征患者重要的遗传检测指标。Objective ： To observe peripheral blood chromosome abnormality and microdeletions of the SRY and AZF genes on the Y chromosome in patients with chimera Klinefelter syndrome. Methods ： We analyzed the cytogenetic karyotype of the peripheral blood chromosome in 1 infertile patient with mosaic karyotype Klinefelfer syndrome and his parents. We identified 9 sequence tagged sites （STS） by multiplex PCR： sY84, sY86, sY127, sY129, sY134, sY254, sY255, sY242, and sY152. Meanwhile we detected the SRYgene and the microdeletion of AZF using ZFX/ZFY as the internal control gene. Results： The karyotype of the patient was 46,XY （12%）/47,XXY （30%）/48,XXYY （56%）/49,XXXXY （2%）. The karyotypes of his parents were normal. Consistency was found between the SRY gene and the chromosome gender in the patient and his parents. Y chromosome AZF microdeletion was ob- served in the patient. The deletion sites were sY86 and sY127, and the deletion type was AZFa ＋ AZFb. Conclusion ： AZF microde- letion of the Y chromosome exists in patients with Klinefelter syndrome. Chromosome karyotype and Y-chromosome AZF microdeletion are important criteria for the genetic diagnosis of Klinefelter syndrome.

关 键 词：KLINEFELTER综合征 序列标签位点 SRY基因 AZF微缺失 

分 类 号：R698.2[医药卫生—泌尿科学]