| 产品名称: | pLDLR3 pLDLR-3 |
|---|---|
| 商品货号: | TS146565 |
| Designations: | pLDLR3 pLDLR-3 |
| Species: | Homo sapiens, human |
| Depositors: | DW Russell |
| Applications: | The BamHI fragment (2355/3466) contains exons 1 - 8 and has been used to detect the TaqI polymorphism. A 1.7 kb HindIII(2337)/BglII(4903) fragment has been used as a single copy probe. The AvaII polymorphic site is in exon 3. The non-polymorphic XbaI site is in intron 12 and is used to yield more separable bands. |
| Vector: | Construct size (kb): 7.849999904632568 |
| Insert: | DNA: cDNA Insert lengths(kb): 5.300000190734863 Tissue: fetal adrenal gland Gene product: low density lipoprotein receptor (familial hypercholesterolemia)(low density lipoprotein receptor) LDLR Alleles: A2, E1, E2, A1, A2, B1, B2, D1, D2, K1, K2, Q1, Q2, S2, A1, S1 |
| Insert Size (kb): | 5.300 |
| Media: | ATCC® Medium 1227: LB Medium (ATCC medium 1065) with 50 mcg/ml ampicillin |
| Biosafety Level: | 1
Biosafety classification is based on U.S. Public Health Service Guidelines, it is the responsibility of the customer to ensure that their facilities comply with biosafety regulations for their own country. |
| Shipping Information: | Distributed: freeze-dried |
| Comments: | Restriction digests of the clone give the following sizes (kb): EcoRI--9; HindIII--9; PstI--3.2, 2.1, 1.05, 0.76. 0.32; BamHI--2.6, 2.1, 1.7, 1.15, 0.41. The vector is pcD minus the SV40 early region promoter. The BamHI fragment (2355/3466) contains exons 1 - 8 and has been used to detect the TaqI polymorphism. A 1.7 kb HindIII(2337)/BglII(4903) fragment has been used as a single copy probe. The insert, which is a full-length copy of the cDNA, is the same as that described for pLDLR-2. The Alu repeat sequences in the cDNA occur in a 1.7 kb BamHI fragment (5874-7600). A SmaI(5191)/XbaI(2349) or SmaI/SalI(2343) or SmaI/HindIII(2337) double digest should generate a single-copy probe. Recorded as not polymorphic by Collaborative Research, meaning either not polymorphic in 0.8% agarose gels, or difficult to work with. The AvaII polymorphic site is in exon 3. The non-polymorphic XbaI site is in intron 12 and is used to yield more separable bands. The PvuII site polymorphism is part of an Alu repeat in intron 15. The sequence of one allele is CGGCTG, the other is CAGCTG (PvuII site). ApaLI digest shows 3 alleles: 26.4, 22.4, 19.6 kb. ApaLI/BamHI digest shows 4 alleles. (E) alleles detected by 3 exon 18 probe from pLDLR3 map to 3 flanking region. D and E alleles are in linkage disequilibrium. D2 in not detected in the absence of Enzyme(s) not detecting polymorphism: BamHI, BglII, EcoRI, EcoRV, HindIII, KpnI, SacI, SstI, SstII, SphI, XbaI, XhoI. |
| References: | Yamamoto T, et al. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 39: 27-38, 1984. PubMed: 6091915 Hobbs HH, et al. AvaII polymorphism in the human LDL receptor gene. Nucleic Acids Res. 15: 379, 1987. PubMed: 2881256 Hobbs HH, et al. Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene. Proc. Natl. Acad. Sci. USA 82: 7651-7655, 1985. PubMed: 2999774 Leitersdorf E, Hobbs HH. Human LDL receptor gene: two ApaLI RFLPs. Nucleic Acids Res. 15: 2782, 1987. PubMed: 2882479 Yamakawa K, et al. TaqI polymorphism in the human LDL receptor gene. Nucleic Acids Res. 15: 7659, 1987. PubMed: 2889198 Barbara Weiffenbach, personal communication |