遗传 ›› 1998, Vol. 20 ›› Issue (5): 31-33.
马继红; 黄尚志; 王玫; 李辉; 罗会元 MA Ji-hong;HUANG Shang-zhi;WANG Mei;LI Hui;LUO Hui-yuan
摘要: 本文鉴定了苯丙氨酸羟化酶基因355位密码子上的一个新的错义突变Q355 H,
此突变异致谷氨酰胺变成了组氨酸。此突变位点恰位于外显子10和内含子11的交界处,
因此将引起mRNA形成过程中的剪接错误而产生异常的mR NA。Q355H的鉴定为一例苯丙酮尿症胎儿的产前诊断提供了理论依据。
Abstract:A novel missense mutation at code 355 of phenylalanine hydroxlase gene was identified,this mutation caused the substitution of Gln 355 for His 355.The mutant site was at the boundary of exon 10 and intro 11 and might cause splicing errors during RNA processing,Which could result in abnormal mRNA.Identification of Q355H provided a theortic evidence for prenatal diagnosis of a fetus with PKU.