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Identification of the Disease Gene of Multiple Familial Trichoepithelioma
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DERMATOLOGY
- Issue:
- 2
- DOI:
- 10.3760/j.issn:0412-4030.2005.02.002
- Key Word:
- 毛发上皮瘤;基因;遗传异质性
Abstract： 目的对多发性家族性毛发上皮瘤一家系进行基因定位及候选基因突变检测.方法共用18对覆盖9p21和16q12-q13的微卫星标记对一个多发性家族性毛发上皮瘤家系进行局部基因组扫描,并用Linkage软件进行两点参数连锁分析,最后PCR扩增CYLD1基因的17个编码外显子及其邻近剪接子并进行双向直接测序.结果①两点参数连锁分析在常染色体显性遗传模式下,外显率为99.9%、基因频率0.00001时在D16S3068位点处得出LOD值=3.31(θ=0.00),排除与9号染色体连锁;②突变分析在CYLD1基因第18号外显子出现连续的4个碱基缺失,即c.2355-2358delCAGA.结论多发性家族性毛发上皮瘤存在着遗传异质性,本家系的致病基因位于16q12-q13,而不在9p21.
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