| Insert |
DNA: cDNA Insert lengths(kb): 2.400000095367432 Tissue: liver Gene product: phenylalanine hydroxylase [PAH] Alleles: A1, A2, E1, G1, G2, K1, K2, C1, C2, C3, D1, D2, E2, F2, J1, J2, F1, A2 |
| Comments |
Restriction digests of the clone give the following sizes (kb): EcoRI--4.4, 2.4; HindIII--5.9, 0.65; PvuII--3.6, 3.2; BamHI--5.1, 1.7; EcoRV--6.8. Restriction sites (with nucleotide positions relative to the published sequence) include: BamHI--1038; BglII--511; HindIII--1311, 1809; PstI--928; PvuII--902, 1610; TaqI--749; XbaI--423; XhoI--748. The following restriction enzymes do not cut the insert: AatII, AhaII, ApaI, BclI, BglI, BstEII, BstXI, BvuI, ClaI, EcoRI, EcoRV, HaeII, HgaI, KpnI, MluI, MstI, NarI, NruI, PvuI, SacI, SacII, SalI, SfiI, SphI, SstI, SstII, StuI, TthI, XmaIII, and XmnI. This insert contains a complete coding sequence with translation initiating at nucleotide 223 and ending at nucleotide 1579. The allele frequencies for the MspI, EcoRI, BglII, PvuII, EcoRV, HindIII, and XmnI are markedly different between Caucasian and Japanese populations. |
| References |
Kwok SC, et al. Nucleotide sequence of a full-length complementary cDNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 24: 556-561, 1985. PubMed: 2986678
Threadgill DW, et al. Syntenic conservation between humans and cattle: II. human chromosome 12. Genomics 8: 29-34, 1990. PubMed: 2081597
Detera-Wadleigh SD, et al. A TthIII1 polymorphism on the 5' flanking region of the glucocorticoid receptor gene (GRL). Nucleic Acids Res. 19: 1960, 1991. PubMed: 1674374
Savio L Woo, personal communication
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