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在7个澳大利亚家系中,将家族性黑色素瘤基因座(MLM)排除在染色体1p臂的PND/D1S47和MYCL1区域之外。

Exclusion of the familial melanoma locus (MLM) from the PND/D1S47 and MYCL1 regions of chromosome arm 1p in 7 Australian pedigrees.

作者信息

Nancarrow D J, Palmer J M, Walters M K, Kerr B M, Hafner G J, Garske L, McLeod G R, Hayward N K

机构信息

Queensland Cancer Fund Research Unit, Queensland Institute of Medical Research, Herston, Australia.

出版信息

Genomics. 1992 Jan;12(1):18-25. doi: 10.1016/0888-7543(92)90401-d.

DOI:10.1016/0888-7543(92)90401-d
PMID:1531137
Abstract

Familial melanoma (MLM) is sometimes found associated with the dysplastic nevus syndrome (DNS). Considerable controversy exists over the possible assignment of a cutaneous malignant melanoma/dysplastic nevus gene, designated CMM, to the distal short arm of chromosome 1, linked to the PND and D1S47 loci. To date, no support for linkage of MLM alone to these markers has been found; likewise no study has been able to exclude the entire region between PND and D1S47 from linkage to MLM. We have carried out linkage studies between markers on 1p and MLM in seven Australian kindreds; three of these are the largest reported worldwide. We have been able to exclude localization of an MLM gene from a 40-cM region that spans the interval between D1S47 and PND and extends approximately 15 cM on either side of these markers. In addition, we can exclude a region of about 20 cM around the MYCL1/D1S57 loci.

摘要

家族性黑色素瘤(MLM)有时与发育异常痣综合征(DNS)相关。对于一种名为CMM的皮肤恶性黑色素瘤/发育异常痣基因是否定位于1号染色体短臂远端并与PND和D1S47位点连锁,存在相当大的争议。迄今为止,尚未发现仅MLM与这些标记连锁的证据;同样,也没有研究能够排除PND和D1S47之间的整个区域与MLM连锁。我们在7个澳大利亚家系中进行了1号染色体上标记与MLM之间的连锁研究;其中3个是全球报道的最大的家系。我们已经能够排除MLM基因定位于一个40厘摩(cM)的区域,该区域跨越D1S47和PND之间的区间,并在这些标记两侧各延伸约15厘摩。此外,我们可以排除MYCL1/D1S57位点周围约20厘摩的区域。

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Exclusion of the familial melanoma locus (MLM) from the PND/D1S47 and MYCL1 regions of chromosome arm 1p in 7 Australian pedigrees.在7个澳大利亚家系中,将家族性黑色素瘤基因座(MLM)排除在染色体1p臂的PND/D1S47和MYCL1区域之外。
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引用本文的文献

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Familial melanoma: a complex disorder leading to controversy on DNA testing.家族性黑色素瘤:一种引发DNA检测争议的复杂病症。
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Localization of a novel melanoma susceptibility locus to 1p22.一个新的黑色素瘤易感基因座定位于1p22。
Am J Hum Genet. 2003 Aug;73(2):301-13. doi: 10.1086/377140. Epub 2003 Jul 3.
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Molecular aspects of melanocytic dysplastic nevi.黑素细胞发育异常痣的分子学方面
J Mol Diagn. 2002 May;4(2):71-80. doi: 10.1016/S1525-1578(10)60684-8.
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Mutation testing in melanoma families: INK4A, CDK4 and INK4D.黑色素瘤家族中的突变检测:INK4A、CDK4和INK4D。
Br J Cancer. 1999 Apr;80(1-2):295-300. doi: 10.1038/sj.bjc.6690354.
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6
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Am J Hum Genet. 1993 Oct;53(4):936-42.
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