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13个荷兰乳腺癌家族中17号染色体区域17q12-q21与标记物的连锁关系。

Linkage to markers for the chromosome region 17q12-q21 in 13 Dutch breast cancer kindreds.

作者信息

Devilee P, Cornelis R S, Bootsma A, Bardoel A, van Vliet M, van Leeuwen I, Cleton F J, de Klein A, Lindhout D, Vasen H F

机构信息

Department of Pathology, University of Leiden, The Netherlands.

出版信息

Am J Hum Genet. 1993 Apr;52(4):730-5.

Abstract

We have performed linkage analysis with five markers for the chromosome region 17q12-q21 in 13 Dutch breast cancer kindreds in order to find support for the claim by Hall et al. that a gene in this region, termed "BRCA1," is associated with predisposition to early-onset familial breast cancer. This work is part of a collaborative study, the results of which are published elsewhere in this issue. Best evidence for linkage was observed with the marker CMM86 (D17S74) in pedigrees with an average age at onset of < or = 47 years (LOD score = 1.77 at 1% recombination). In one breast-ovarian cancer family with a high probability of being linked to 17q, we observed one putative recombinant between D17S250 and D17S579, which suggests that BRCA1 is proximal to D17S579.

摘要

我们对13个荷兰乳腺癌家族的17q12 - q21染色体区域的5个标记进行了连锁分析,以支持霍尔等人的观点,即该区域的一个名为“BRCA1”的基因与早发性家族性乳腺癌的易感性有关。这项工作是一项合作研究的一部分,其结果在本期其他地方发表。在平均发病年龄≤47岁的家系中,标记CMM86(D17S74)观察到最强的连锁证据(在1%重组率时LOD分数 = 1.77)。在一个极有可能与17q连锁的乳腺 - 卵巢癌家族中,我们在D17S250和D17S579之间观察到一个推定的重组体,这表明BRCA1位于D17S579近端。

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