Altered dosage of the sex chromosomes in human testicular cancer: A molecular genetic study
Altered dosage of the sex chromosomes in human testicular cancer: A molecular genetic study
复制标题
人类睾丸癌中性染色体剂量的改变：分子遗传学研究
DOI：
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发表时间：
1991
影响因子：
6.4
通讯作者：
A. de la Chapelle
中科院分区：
文献类型：
--
作者：
P. Peltomäki;R. Lothe;A. Børresen;S. Fosså;A. Brøgger;A. de la Chapelle
使用X和Y染色体特异性探针以及假常染色体探针通过Southern杂交研究了31例睾丸生殖细胞肿瘤男性患者。光密度分析显示，与来自相同患者的正常DNA相比，来自31名患者中的12名（39%）的肿瘤DNA中Y染色体片段的相对剂量发生变化。在11个肿瘤中，Y染色体特异性片段的相对强度比从正常值I下降到0至0.77之间的值。在1例病例中观察到Y染色体剂量增加。大多数患者明显涉及整个Y染色体，但2例肿瘤显示区域变异。2例Y染色体缺陷患者的肿瘤DNA显示X染色体剂量伴随增加。共有8例肿瘤（26%）涉及两条性染色体共有的假常染色体区域，其中2例未显示任何明显的剂量变化，探针检测严格的X或Y染色体特异性片段。本肿瘤系列中的常染色体改变已被描述。涉及性染色体的剂量变化伴随着10个肿瘤（67%）的3 p或lip位点的杂合性丢失。精原细胞瘤比非精原细胞瘤更容易受到任何一种改变的影响。我们的研究结果表明，性染色体的变化发生在相当大比例的男性生殖细胞肿瘤中，与其他缺陷一起，可能构成肿瘤发展和/或进展的重要步骤。
Thirty‐one males with testicular germ‐cell tumors were studied by Southern hybridization using X‐ and Y‐chromosome‐specific probes as well as a pseudoautosomal probe. Densitometric analysis showed changes in the relative dosage of Y‐chromosomal fragments in tumor DNA from 12 out of 31 patients (39%) as compared to normal DNA from the same patients. In 11 tumors the relative intensity ratios of Y‐chromosome‐specific fragments had decreased from the normal value of I to values between 0 and 0.77. An increase in the Y‐chromosomal dosage was observed in I case. The entire Y chromosome was apparently involved in most patients but 2 tumors revealed regional variation. Tumor DNA of 2 patients with Y‐chromosomal deficiency showed a concomitant increase in the X chromosomal dosage. The pseudoautosomal region that is shared by both sex chromosomes was involved in a total of 8 tumors (26%), 2 of which did not show any obvious dosage changes with probes detecting strictly X‐ or Y‐chromosome‐specific fragments. Autosomal alterations in the present tumor series have been described. A dosage change involving the sex chromosomes accompanied loss of heterozygosity at loci in 3p or lip in 10 tumors out of 15 (67%). Seminomas tended to be affected more often than non‐seminomas by either type of alteration. Our results indicate that changes in the sex chromosomes occur in a substantial proportion of male germ‐cell tumors and, together with other defects, may constitute an important step in tumor development and/or progression.
来自人类 1 号染色体的染色体特异性 α 卫星 DNA：跨越数百千碱基对着丝粒 DNA 的多态性结构域的层次结构和基因组组织。
影响因子：
4.4
作者：
Waye,JS;Durfy,SJ;Pinkel,D;Kenwrick,S;Patterson,M;Davies,KE;Willard,HF
通讯作者：
Willard,HF
睾丸恶性畸胎瘤，具有同染色体编号。
DOI：
10.1016/s0022-5347(17)50613-8
发表时间：
1984
期刊：
The Journal of urology
影响因子：
--
作者：
Gibas,Z;ProutJr,GR;Sandberg,AA
通讯作者：
Sandberg,AA