Salemi Michele, Bosco Paolo, Calì Francesco, Calogero Aldo E, Soma Pier Franco, Galia Antonio, Lanzafame Manuela, Romano Carmelo, Vicari Enzo, Grasso Giuseppe, Siragò Paolo, Rappazzo Giancarlo
Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.
Melanoma Res. 2008 Aug;18(4):295-9. doi: 10.1097/CMR.0b013e32830aaa90.
The incidence of melanoma has dramatically increased in many countries (it is 4.5 cases every 100 000 inhabitants in Sicily) and Xq27 region contains genes important in cancer like the SPANX (sperm protein associated with the nucleus in the X chromosome) gene family. These genes, made up of two exons separated by an intron of about 650 base pair, are expressed in sperm cells and in many tumours, including melanoma. These observations suggested that SPANX genes, or some of them, may be involved in melanoma development. The aim of this study was to investigate the genetic variability of SPANX-B and SPANX-C in a sample of Sicilian male population including patients with melanoma of the skin and controls. A total of 99 patients were enrolled in this study. They included: 17 male patients with cutaneous melanoma and 82 normal males. Semiquantitative fluorescent multiplex PCR dosage analysis was carried out to identify the variety of classes of SPANX-B and SPANX-C genes. Sixteen and 13 genetic classes were detected for SPANX-B and SPANX-C genes, respectively. A statistical significant difference for a particular class of SPANX-C gene was found comparing patients with melanoma and controls (P=0.011). Further investigations should be conducted to confirm these observations and to evaluate the possible implication of other genes of the region Xq27-28 in melanoma.
在许多国家，黑色素瘤的发病率急剧上升（在西西里岛，每10万居民中有4.5例），而Xq27区域包含对癌症很重要的基因，如SPANX（与X染色体中的细胞核相关的精子蛋白）基因家族。这些基因由两个外显子组成，中间被一个约650个碱基对的内含子隔开，在精子细胞和许多肿瘤中表达，包括黑色素瘤。这些观察结果表明，SPANX基因，或其中一些基因，可能参与黑色素瘤的发生发展。本研究的目的是调查西西里男性人群样本中SPANX-B和SPANX-C的基因变异性，该样本包括皮肤黑色素瘤患者和对照。本研究共纳入99名患者。他们包括：17名男性皮肤黑色素瘤患者和82名正常男性。进行了半定量荧光多重PCR剂量分析，以鉴定SPANX-B和SPANX-C基因的各类别。分别检测到SPANX-B和SPANX-C基因的16种和13种基因类别。比较黑色素瘤患者和对照时，发现特定类别的SPANX-C基因存在统计学显著差异（P = 0.011）。应进行进一步调查以证实这些观察结果，并评估Xq27 - 28区域其他基因在黑色素瘤中的可能作用。
