| Insert |
DNA: genomic Insert lengths(kb): 1.899999976158142 Gene product: renin [REN] Alleles: H1, H2, J1, B1, B2, F1, F2, G1, K1, K2, G2, I1 |
| Comments |
Restriction digests of the clone give the following sizes (kb): EcoRI/PstI--2.7, 1.9; HindIII--4.6; PstI--4.6; BamHI--4.6. Evidence of linkage (theta = 0.02, LOD score = 9.09) was found between the renin (REN) gene on 1q and Van der Woude syndrome (VWS). This probe is unique in sequence and contains exons 7 - 10 of human renin. There is a short 9 bp exon which has been identified that lies between exon 5 and the former exon 6. BglI, HindIII, BglII, TaqI, RsaI, and BstXI RFLPs are detected with a mix of the inserts from pHRnX0.8 (ATCC 57174), pHRnX3.6 (ATCC 57178), and pHRnES1.9 (ATCC 57176), apparently from base changes not within the coding regions of the gene. Detection of the HindIII polymorphism (alleles 8.7 and 6.2 kb) was verified by CEPH. Enzyme(s) not detecting polymorphism: EcoRI, BanI, MlnI, BstEII, HphI, MspI, SstI, DraI, PvuII, MboII, ApaI, SinI, NciI, ScaI, XbaI, HinfI, NdeI, HincII. XmnI and PstI give uninterpretable results. Tested on a small sample. |
| References |
Naftilan AJ, et al. A lack of genetic linkage of renin gene restriction fragment length polymorphisms with human hypertension. Hypertension 14: 614-618, 1989. PubMed: 2573574
Murray JC, et al. Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome 1q. Am. J. Hum. Genet. 46: 486-491, 1990. PubMed: 2309700
Chirgwin JM, et al. Human renin gene is on chromosome 1. Somatic Cell Mol. Genet. 10: 415-421, 1984. PubMed: 6379904
Buetow KH, et al. A detailed multipoint gene map of chromosome 1q. Genomics 8: 13-21, 1990. PubMed: 1981991
Dracopoli NC, et al. The CEPH consortium linkage map of human chromosome 1. Genomics 9: 686-700, 1991. PubMed: 2037294
Hobart PM, et al. Human renin gene: Structure and sequence analysis. Proc. Natl. Acad. Sci. USA 81: 5026-5030, 1984. PubMed: 6089171
John M Chirgwin, personal communication
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