Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria
Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria
复制标题
苯丙氨酸羟化酶的非法转录用于检测苯丙酮尿症患者的突变
作者：
S. Ramus;S. Forrest;R. Cotton
使用聚合酶链反应从成纤维细胞和 Epstein-Barr 病毒转化的淋巴细胞中扩增非法转录的苯丙氨酸羟化酶 mRNA。该方法用于研究苯丙酮尿症患者该基因的突变，并且很容易检测到已知的点突变。非法转录成功地研究了剪接缺陷，发现之前描述的在内含子 7 的 5' 供体位点处将 G 变为 A 的突变导致外显子 7 被剪接。 © 1992 Wiley-Liss, Inc.
Illegitimately transcribed phenylalanine hydroxylase mRNA was amplified using the polymerase chain reaction from both fibroblasts and Epstein‐Barr virus‐transformed lymphocytes. This method was used to study mutations of this gene in patients with phenylketonuria and known point mutations were easily detected. Illegitimate transcription was successful studying splicing defects and it was found that the previously described mutation which changes G to A at the 5′ donor site of intron 7 causes exon 7 to be spliced out. © 1992 Wiley‐Liss, Inc.
剪接供体位点处的 GT 到 AT 的转变导致苯丙酮尿症中前一个外显子的跳跃。
影响因子：
14.9
作者：
Marvit,J;DiLella,AG;Brayton,K;Ledley,FD;Robson,KJ;Woo,SL
通讯作者：
Woo,SL