PCR detection of the Bg1II RFLP at the human phenylalanine hydroxylase (PAH) locus.
PCR detection of the Bg1II RFLP at the human phenylalanine hydroxylase (PAH) locus.
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PCR 检测人苯丙氨酸羟化酶 (PAH) 位点的 Bg1II RFLP。
DOI：
10.1093/nar/19.8.1959
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发表时间：
1991
影响因子：
14.9
通讯作者：
J. Horst
中科院分区：
文献类型：
--
作者：
B. Dworniczak;N. Wedemeyer;J. Horst
来源/描述：phPAH 247是一个全长2448个碱基的人类苯丙氨酸羟基酶基因克隆，此前报道在PAH基因座上检测到至少10个多态位点(1)。我们用该基因克隆了一个插入PAH基因外显子5至外显子12的基因组DNA的Lambda克隆。随后，我们分离到一个含有内含子7、外显子8和内含子8的3.5kb侧翼序列的4.5 BamHI-片段。利用该质粒克隆，我们能够定位位于该片段内的MspI多态位点的精确位置。
Source/Description: phPAH 247, a human phenylalanine hydroxylase cDNA clone 2448 bp in length, was previously reported to detect at least 10 polymorphic sites at the PAH locus (1). We have used this cDNA to identify a lambda clone which has inserted genomic DNA covering exon 5 upto exon 12 of the PAH gene. Subsequently we isolated a 4.5 BamHI-fragment harbouring intron 7, exon 8 and 3.5 kb flanking sequences of intron 8. Using this plasmid clone we were able to map the precise location of the MspI polymorphic site which resides within this fragment.