贝克威思-维德曼综合征与11号染色体短臂15区的基因连锁关系。
Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.
作者信息
Ping A J, Reeve A E, Law D J, Young M R, Boehnke M, Feinberg A P
机构信息
Howard Hughes Medical Institute, University of Michigan, Ann Arbor 48109-0650.
出版信息
Am J Hum Genet. 1989 May;44(5):720-3.
Abstract
Beckwith-Wiedemann syndrome (BWS), characterized by multiorgan developmental abnormalities and predisposition to cancer, usually occurs sporadically, but small apparently dominant pedigrees have been described. Since rare patients show varying karyotypic abnormalities on the short arm of chromosome 11, it has been suggested that BWS may be related to the Wilms tumor gene on 11p13 or, alternatively, to growth factor genes on 11p15. We performed genetic linkage analysis on two BWS kindreds, using RFLPs for loci on 11p. BWS was linked to the insulin gene (11p15.5), with an overall maximum lod score of 3.60 (recombination fraction = .00). Linkage to D11S16 (11p13) could be excluded for recombination fractions less than or equal to .03. These results suggest that BWS defines a tumor-predisposition gene on 11p15.
摘要
贝克威思-维德曼综合征（BWS）的特征是多器官发育异常和易患癌症，通常为散发性，但也有少数明显呈显性遗传的家系被描述。由于罕见患者在11号染色体短臂上表现出不同的核型异常，有人提出BWS可能与11p13上的肾母细胞瘤基因有关，或者与11p15上的生长因子基因有关。我们对两个BWS家系进行了遗传连锁分析，使用11p位点的限制性片段长度多态性（RFLP）。BWS与胰岛素基因（11p15.5）连锁，总体最大优势对数得分为3.60（重组率 = 0.00）。对于重组率小于或等于0.03的情况，可以排除与D11S16（11p13）的连锁。这些结果表明，BWS在11p15上定义了一个肿瘤易感基因。
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