反对皮肤黑色素瘤-发育异常痣综合征基因座与染色体1p36之间所报道的连锁关系的证据。
Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome Ip36.
作者信息
Cannon-Albright L A, Goldgar D E, Wright E C, Turco A, Jost M, Meyer L J, Piepkorn M, Zone J J, Skolnick M H
机构信息
Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City.
出版信息
Am J Hum Genet. 1990 May;46(5):912-8.
The reported linkage between cutaneous melanoma and the dysplastic nevus syndrome (CM/DNS) to markers located on the distal portion of the short arm of chromosome 1 was examined in three Utah kindreds ascertained for multiple cases of melanoma. Family members in these kindreds were genotyped for the two markers reported to be most closely linked in the Bale study, PND and D1S47. Both melanoma alone and a combined melanoma/DNS phenotype were analyzed; no evidence for linkage was found. By multipoint linkage analysis the CM/DNS locus was excluded from an area of 55 cM containing the PND-D1S47 region. Diagnostic or genetic heterogeneity are alternate explanations for the discrepancy between our observations and those of Bale et al.
在三个因多例黑色素瘤而确定的犹他州家族中，研究了已报道的皮肤黑色素瘤与发育异常痣综合征（CM/DNS）与位于1号染色体短臂远端的标记之间的连锁关系。对这些家族中的家庭成员进行了基因分型，检测了在Bale研究中报道的两个最紧密连锁的标记，即PND和D1S47。对单独的黑色素瘤以及黑色素瘤/发育异常痣综合征联合表型均进行了分析；未发现连锁证据。通过多点连锁分析，CM/DNS基因座被排除在包含PND-D1S47区域的55厘摩区域之外。诊断或基因异质性是我们的观察结果与Bale等人的观察结果之间差异的其他解释。
Zotero 插件