Suppr超能文献

家族性黑色素瘤中9号染色体短臂连锁的确认。

Confirmation of chromosome 9p linkage in familial melanoma.

作者信息

Nancarrow D J, Mann G J, Holland E A, Walker G J, Beaton S C, Walters M K, Luxford C, Palmer J M, Donald J A, Weber J L

机构信息

Queensland Cancer Fund Research Unit, Joint Experimental Oncology Program, Herston, Australia.

出版信息

Am J Hum Genet. 1993 Oct;53(4):936-42.

Abstract

Malignant melanoma occurs as a familial cancer in 5%-10% of cases where it segregates in a manner consistent with autosomal dominant inheritance. Evidence from cytogenetics, fine-mapping studies of deletions in melanomas, and recent linkage studies supports the location of a human melanoma predisposition gene on the short arm of chromosome 9. We have carried out linkage analysis using the 9p markers IFNA and D9S126 in 26 Australian melanoma kindreds. Multipoint analysis gave a peak lod score of 4.43, 15 cM centromeric to D9S126, although a lod score of 4.13 was also found 15 cM telomeric of IFNA. These data confirm the existence of a melanoma susceptibility gene on 9p and indicate that this locus most probably lies outside of the IFNA-D9S126 interval. No significant heterogeneity was found between families, when either pairwise or multipoint data were analyzed using HOMOG.

摘要

在5% - 10%的病例中,恶性黑色素瘤表现为家族性癌症,其遗传方式符合常染色体显性遗传。细胞遗传学、黑色素瘤缺失的精细定位研究以及最近的连锁研究证据支持人类黑色素瘤易感基因位于9号染色体短臂上。我们使用9p标记IFNA和D9S126对26个澳大利亚黑色素瘤家族进行了连锁分析。多点分析得出,在D9S126着丝粒方向15厘摩处,最高对数优势分数为4.43,不过在IFNA端粒方向15厘摩处也发现了对数优势分数为4.13的情况。这些数据证实了9p上存在黑色素瘤易感基因,并表明该基因座很可能位于IFNA - D9S126区间之外。当使用HOMOG分析成对或多点数据时,各家族之间未发现显著的异质性。

相似文献

3
Linkage analysis in familial melanoma kindreds to markers on chromosome 6p.
Int J Cancer. 1994 Dec 15;59(6):771-5. doi: 10.1002/ijc.2910590611.
5
Haplotype analysis limits the position of the familial melanoma locus on 9p to the D9S169-D9S156 interval.
Melanoma Res. 1994 Feb;4(1):29-34. doi: 10.1097/00008390-199402000-00005.
6
Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22.
Science. 1992 Nov 13;258(5085):1148-52. doi: 10.1126/science.1439824.
10
Linkage analysis of familial melanoma and chromosome 6 in 14 Australian kindreds.
Genes Chromosomes Cancer. 1997 Aug;19(4):241-9. doi: 10.1002/(sici)1098-2264(199708)19:4<241::aid-gcc6>3.0.co;2-x.

引用本文的文献

2
Molecular bases of cutaneous and uveal melanomas.皮肤和葡萄膜黑色素瘤的分子基础。
Patholog Res Int. 2011;2011:159421. doi: 10.4061/2011/159421. Epub 2011 Aug 18.
5
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.

本文引用的文献

2
Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
4
Chromosome changes in metastatic human melanoma.转移性人类黑色素瘤中的染色体变化
Cancer Genet Cytogenet. 1988 Feb;30(2):201-11. doi: 10.1016/0165-4608(88)90186-0.
7
Chromosome 9p and hereditary cutaneous malignant melanoma.
J Natl Cancer Inst. 1989 Jan 4;81(1):70. doi: 10.1093/jnci/81.1.70.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验