| Insert |
DNA: cDNA Insert lengths(kb): 1.399999976158142 Tissue: retina Gene product: choroideremia(REP-1, Rab escort protein 1, tapeto-choroidal dystrophy, progressive choroidemia) [CHM] |
| Comments |
Restriction digests of the clone give the following sizes (kb): EcoRI/HindIII--2.8, 0.80, 0.70; BamHI--4.4; BglII--4.4; EcoRI--3.5, 0.86; HindIII--4.4. The insert contains the following restriction sites (approximate kb from the 5' end): PstI--0.28; BglII--0.47, 0.5; EcoRI--0.75; AccI--1.12. The insert is not cut with HindIII, BamHI, XbaI, SalI, or HincII. Detects 9 exons contained in human genomic EcoRI fragments of the following sizes (kb, 5' to 3'): 7.5 (contains 3 exons), 4.5 or 4.2, 12.5, 2.6, 4.0, 1.0, 7.0. Corresponds to the 5' EcoRI/NcoI fragment of T8. Transcription from the SP6 and T7 promoters give the sense and antisense strands, respectively. |
| References |
Cremers FP, et al. Cloning of a gene that is rearranged in patients with chroideraemia. Nature 347: 674-677, 1990. PubMed: 2215697
Frans P Cremers, personal communication
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