Tu Xiang-dong, Zeng Jian, Cong Xue-wen, Yan Ai-zhen, Huang Wu-jian, Lin Yan-hong, Zheng De-zhu, Zhang Min, Wang Zhi-hong
PLA Center for Laboratory Medicine, Fuzhou General Hospital of Nanjing Military Command, Fuzhou, Fujian 350025, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):420-4. doi: 10.3760/cma.j.issn.1003-9406.2013.04.009.
To delineate the structure of Y chromosome aberrations and recombinant mechanisms for three patients.
Karyotype analysis, multiplex ligation dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), Y chromosome sequence tagged sites (STS) analysis, human whole genome-wide SNP array were used.
The karyotypes of the three patients were 46, X, +mar. As suggested by MLPA analysis, case 1 has increased copy numbers of SRY, ZFY and UTY genes, case 2 had increased copies of SRY and ZFY genes, and deletion of UTY gene, and case 3 had decreased copies for subtelomeric regions of X/Yp and X/Yq. By STSs analysis, case 1 has retained SRY, sY84 and sY86 in the AZFa region, sY1227 in the AZFb region, whilst lost sY1228 in the AZFb region and other STSs in the AZFc region. Its breakpoint was thereby mapped between sY1227 and sY1228. Case 2 has retained SRY and sY1200 in the centromeric region, whilst has deletion of other STSs. Case 3 has retained SRY and STSs in the AZF regions. By SNP array, case 1 had duplicated Yp11.31-p11.2 and deletion of Yq11.22-q11.23 (approximately 5.18 Mb). Case 2 had duplicated Yp11.31-p11.2 and deletion of Yq11.21-q11.23 (approximately 14.644 Mb). Case 3 had single copy number deletion of p22.33 and q28 in the subtelomeric region of X/Yp and X/Yq. By FISH, cases 1 and 2 showed two signals for SRY and DYZ3 but no signal for DYZ1 on their marker chromosomes. Combining above results, the karyotypes of cases 1, 2 and 3 were determined as 46, X, idic(Y) (q11.23), 46, X, idic(Y) (q10) and 46, X, r(Y) (p11q12), respectively.
Y chromosome aberrations are variable. Combined use of MLPA, STSs, FISH and SNP array is effective for revealing the breakpoints and recombinant mechanisms.
描绘3例患者Y染色体畸变的结构及重组机制。
采用核型分析、多重连接依赖探针扩增（MLPA）、荧光原位杂交（FISH）、Y染色体序列标签位点（STS）分析及人类全基因组单核苷酸多态性（SNP）芯片技术。
3例患者的核型均为46,X,+mar。MLPA分析显示，病例1的SRY、ZFY和UTY基因拷贝数增加；病例2的SRY和ZFY基因拷贝数增加，UTY基因缺失；病例3的X/Yp和X/Yq亚端粒区域拷贝数减少。通过STSs分析，病例1在AZFa区域保留了SRY、sY84和sY-86，在AZFb区域保留了sY1227，但在AZFb区域丢失了sY1228，在AZFc区域丢失了其他STSs，其断点定位于sY1227和sY1228之间。病例2在着丝粒区域保留了SRY和sY1200，其他STSs缺失。病例3在AZF区域保留了SRY和STSs。通过SNP芯片分析，病例1的Yp11.31-p11.2重复，Yq11.22-q11.23缺失（约5.18 Mb）；病例2的Yp11.31-p11.2重复，Yq11.21-q11.23缺失（约14.644 Mb）；病例3的X/Yp和X/Yq亚端粒区域的p22.33和q28单拷贝数缺失。FISH检测显示，病例1和病例2的标记染色体上SRY和DYZ3显示两个信号，DYZ1无信号。综合上述结果，病例1、病例2和病例3的核型分别确定为46,X,idic(Y)(q11.23)、46,X,idic(Y)(q10)和46,X,r(Y)(p11q12)。
Y染色体畸变具有多样性。联合应用MLPA、STSs、FISH和SNP芯片技术有助于揭示断点及重组机制。
