SRY mutation and tumor formation on the gonads of XY pure gonadal dysgenesis patients
SRY mutation and tumor formation on the gonads of XY pure gonadal dysgenesis patients
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DOI：
10.1016/s0165-4608(99)00010-2
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发表时间：
1999-08-01
影响因子：
--
通讯作者：
Yajima, A
中科院分区：
文献类型：
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作者：
Uehara, S;Funato, T;Yajima, A
我们报告三例XY纯性腺发育不全。其中两名患者发生了性腺母细胞瘤和相关的无性细胞瘤。采用聚合酶链反应（PCR）扩增Y染色体特异性DNA序列（PAPY、SRY、DYS 250、DYS 254和DYZ 1）进行缺失分析。Y染色体短臂的隐性缺失，包括PAY，SRY。DYS 250和DYS 254位点在一名患有相关肿瘤的患者（22岁）中观察到。在她的两个没有表现出这种缺失的患者中，SRY开放阅读框架的序列是通过双脱氧核苷酸方法确定的。在另一名患有相关肿瘤的患者（15岁）的HMG（高迁移率族）-盒的3'端观察到两个核苷酸取代，随后是七个核苷酸缺失。无相关肿瘤的患者（22岁）没有SRY的隐性缺失或突变。通过PCR扩增这两个患者的显微切割肿瘤组织，证明了Y染色体特异性序列（DYZ 1）。这些结果表明，SRY可能在性腺肿瘤，特别是无性细胞瘤的形成中起作用。(C)Elsevier Science Inc.，1999. All rights reserved.
We report three patients with XY pure gonadal dysgenesis. Two of these patients developed gonadoblastoma and associated dysgerminoma. Molecular analyses were undertaken to investigate the relationship between the formation of these tumors and Y chromosome aberrations, Deletion analyses were performed by polymerase chain reaction (PCR) amplification of Y chromosome-specific DNA sequences (PABY, SRY, DYS250, DYS254, and DYZ1). A cryptic deletion of the short arm of the Y chromosome that included the PABY, SRY. DYS250, and DYS254 loci was observed in one of the patients (22-years-old) with an associated tumor. In the of her two patients who did not demonstrate such a deletion, the sequence of the SRY open reading frame was determined by the dideoxynucleotide method. Two nucleotide substitutions followed by a seven nucleotide deletion were observed in the 3' end of HMG (high mobility group)-box in the other patient (15-years-old) with an associated tumor. The patient (22-years-old) without an associated tumor did not have the cryptic deletion or mutation of SRY. A Y chromosome specific sequence (DYZ1) was demonstrated by PCR amplification of microdissected tumor tissues from these two patients. These results suggest that SRY may play a role in the formation of gonadal tumors, especially dysgerminoma. (C) Elsevier Science Inc., 1999. All rights reserved.