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卡尼综合征中第二个基因位点的证据。

Evidence for a second genetic locus in Carney complex.

作者信息

Irvine A D, Armstrong D K, Bingham E A, Hadden D R, Nevin N C, Hughes A E

机构信息

Department of Medical Genetics, Queen's University Belfast, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, U.K.

出版信息

Br J Dermatol. 1998 Oct;139(4):572-6. doi: 10.1046/j.1365-2133.1998.02450.x.

Abstract

Carney complex (MIM no. 160980) is an autosomal dominant condition of lentiginosis, cutaneous and cardiac myxomas and multiple endocrine neoplasia. A locus for Carney complex has recently been mapped to chromosome 2p16. We have studied two Northern Irish families with this disorder. Linkage analysis was performed on the families using five highly informative dinucleotide repeat markers covering this area. Negative logarithm of the odds scores were obtained for all markers at all recombination fractions. We conclude that Carney complex is genetically as well as clinically heterogeneous.

摘要

卡尼综合征(MIM编号160980)是一种常染色体显性疾病,表现为雀斑样痣、皮肤和心脏黏液瘤以及多发性内分泌肿瘤。卡尼综合征的一个基因座最近已被定位到2号染色体的p16区域。我们研究了两个患有这种疾病的北爱尔兰家族。使用覆盖该区域的五个信息丰富的二核苷酸重复标记对这些家族进行连锁分析。在所有重组率下,所有标记均获得了负对数优势分数。我们得出结论,卡尼综合征在遗传和临床方面均具有异质性。

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