Silent APC (adenomatous polyposis coli) gene polymorphism in the Portuguese population

被引:0
作者
Marshall, B [1 ]
Isidro, G [1 ]
Boavida, MG [1 ]
机构
[1] INST NACL SAUDE DR RICARDO JORGE,DEPT GENET HUMANA,LISBON,PORTUGAL
来源
GENE GEOGRAPHY | 1995年 / 9卷 / 03期
关键词
D O I
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中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
We describe a new, silent polymorphism in exon 15 of the APC gene on chromosome 5q in the Portuguese population. The polymorphism is located at codon 1442 and results in a CCT-->CCA (Pro) base transversion, with no amino acid change. Population analysis in unrelated healthy controls indicated that the polymorphism was present in 2 out of 50 individuals giving an allele frequency of 0.02 +/- 0.01. The polymorphism is the most common encountered in the Portuguese population in the mutation cluster region of exon 15, and has not been previously described in other populations.
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页码:207 / 210
页数:4
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