Jordan D K, Divelbiss J E, Waziri M H, Burns T L, Patil S R
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242.
Cancer Genet Cytogenet. 1989 Jun;39(2):157-66. doi: 10.1016/0165-4608(89)90181-7.
Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that predisposes to diverse tumors including renal cell carcinoma. Six affected and four unaffected subjects from five families were studied to determine the frequency of fragile site expression. Peripheral lymphocyte cultures from each subject were treated with low folate, 5-fluorodeoxyuridine (FUdR), and FUdR plus caffeine for fragile site induction. A site was considered to be fragile if it was expressed at least two times in half of the affected or unaffected subjects. Of the established sites, four were expressed in the unaffected group (3p14, 6p22, 8q22, and Xp22) and six were expressed in the affected group (3p14, 4q31, 5q31, 7q32, Xp22, and Xq22). Only 3p14 and Xp22 were expressed in both groups. There were four new sites: three (3q26, 6p21, 7p15) in the unaffected group and one (16q24) in the affected group. The 3p14 site was expressed twice as frequently in affected versus unaffected subjects. This finding is of interest because of reports of the involvement of 3p14 in hereditary renal cell carcinoma and in VHL.
冯·希佩尔-林道（VHL）病是一种常染色体显性疾病，易引发包括肾细胞癌在内的多种肿瘤。对来自五个家庭的六名患病和四名未患病个体进行了研究，以确定脆性位点表达的频率。对每个个体的外周淋巴细胞培养物用低叶酸、5-氟脱氧尿苷（FUdR）以及FUdR加咖啡因进行处理，以诱导脆性位点。如果一个位点在一半的患病或未患病个体中至少表达两次，则该位点被视为脆性位点。在已确定的位点中，四个在未患病组中表达（3p14、6p22、8q22和Xp22），六个在患病组中表达（3p14、4q31、5q31、7q32、Xp22和Xq22）。只有3p14和Xp22在两组中均有表达。有四个新位点：三个在未患病组中（3q26、6p21、7p15），一个在患病组中（16q24）。3p14位点在患病个体中的表达频率是未患病个体的两倍。由于有报道称3p14与遗传性肾细胞癌以及VHL病有关，这一发现很有意思。
