Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome:: a study of 'hidden' mosaicism
Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome:: a study of 'hidden' mosaicism
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DOI：
10.1034/j.1399-0004.2000.580307.x
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发表时间：
2000-09-01
影响因子：
3.5
通讯作者：
Pásaro, E
中科院分区：
文献类型：
--
作者：
Fernández-García, R;García-Doval, S;Pásaro, E
我们对41例Turner综合征患者进行了性染色体嵌合体的遗传学研究。应用经典的α-卫星探针(CEP-X和CEP-Y)、绘制探针(WCP-X和WCP-Y)以及XIST、DXZ4和两个分别覆盖X染色体短臂和长臂的亚染色体绘制文库(SCPL116和SCPL102)，在41例患者中有37例发现了新的马赛克细胞系(马赛克)，只有4例患者被定义为45，X非马赛克。最常见的隐性嵌合体是45，X/46，XX，占32%，存在等染色体占25%，标记占5%。2例45，X/46，XY和45，X/46，X，IDIC(Y-nf)患者的血液和卵巢组织中存在Y染色体和SRY基因。在这两个患者中，SRY基因的测序证实了一个与对照男性相同的核苷酸序列。我们的结果支持“马赛克对于生存的必要性”的假说，因此，这种综合征是有丝分裂的起源。
We performed a genetic study of sex chromosome mosaicism in 41 Turner syndrome patients. The investigation was carried out in four phases: cytogenetics (G-banding), FISH, PCR for SRY in all 41 cases, and sequencing of the SRY gene in the 2 patients with the Y chromosome.The application of classical alpha-satellite probes (CEP-X and CEP-Y), painting probes (WCP-X and WCP-Y) and also XIST, DXZ4 and two subchromosomal painting libraries (SCPL116 and SCPL102) covering the short and the long arm of the X chromosome, respectively, allowed us to find new mosaic cell lines (mosaicism) in 37 out of 41 patients; only 4 patients were defined as 45,X non-mosaic. The most frequent hidden mosaic was 45,X/46,XX in 32% of the cases; the presence of isochromosomes comprised 25% and markers 5%. The patients who had been previously diagnosed as mosaics displayed a higher complexity in their karyotypes due to the presence of new cell lines.The Y chromosome and the SRY gene were present in blood and ovarian tissue in 2 patients with karyotypes 45,X/46,XY and 45,X/46,X,idic(Y-nf). In both patients, the sequencing of the SRY gene confirmed a nucleotide sequence identical to that of a control male. Our results support the hypothesis of 'the necessity of mosaicism for survival', and thus, a mitotic origin for this syndrome.