Crofts F, Cosma G N, Currie D, Taioli E, Toniolo P, Garte S J
Nelson Institute of Environmental Medicine, New York University Medical Center, NY 10016.
Carcinogenesis. 1993 Sep;14(9):1729-31. doi: 10.1093/carcin/14.9.1729.
A new Msp1 RFLP in the CYP1A1 gene has been found in genomic DNA from African-Americans. The polymorphism results from a single A-T to G-C transition in the 3' noncoding region approximately 300 bp upstream from the polyadenylation site. This mutation leads to cleavage of the normal 2.3 kb MspI restriction fragment into 1.3 and 1.0 kb fragments. The heterozygous mutation has been seen in 8 of 47 African-Americans, but was not detected in 191 Caucasians or 30 Asians. No linkage was observed with either of the two previously described polymorphisms in this gene.
在非裔美国人的基因组DNA中发现了CYP1A1基因中的一种新的Msp1限制性片段长度多态性(RFLP)。这种多态性是由位于多聚腺苷酸化位点上游约300 bp的3'非编码区中单个A - T到G - C的转换导致的。该突变导致正常的2.3 kb MspI限制性片段切割成1.3 kb和1.0 kb的片段。在47名非裔美国人中有8人出现杂合突变,但在191名白种人或30名亚洲人中未检测到。该基因中先前描述的两种多态性均未观察到连锁关系。