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
Queensland Cancer Fund Research Unit, Joint Experimental Oncology Program, Herston, Australia.
Am J Hum Genet. 1993 Oct;53(4):936-42.
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.
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。