Dracopoli, Nicholas C.

Feltquate, David M.

Sam, Brigitta

Schartl, Manfred

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1928 Nucleic Acids Research, Vol. 18, No. 7 Taql and Mspl RFLPs are detected by the human 2,3-biphosphoglycerate mutase (BPGM) cDNA Nicholas C.Dracopoli1, David M.Feltquate1, Brigitta Sam2 and Manfred Schart12 1Center for Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA and 2Genzentrum, Max Planck Institut fur Biochemie, 8033 Martinsreid, FRG Source/Description: The XMEIA clone is a 1.5 kb cDNA subcloned into the EcoRI site of pBluescript SKII +. XMEIA was isolated from a human melanoma cDNA library. Sequence analysis showed complete homology between XMEIA and the 2,3-biphosphoglycerate mutase (BPGM) cDNA sequence (1, 2). Polymorphism: Both Taql and Mspl detect two-allele polymorphisms when probed with XMEIA. Frequency: Allele frequencies were detennined by typing the 80 parents of the CEPH reference families. Enzyme Allele Size Taql 1 6.0 kb 2 5.5 kb Mspl 1 7.0 kb 2 6.2 kb Frequency 0.55 0.45 0.83 0.17 Not Polymorphie For: Rsal, Hinfl, i>vun, EcoRI, Hindlll, Bell, Bglll and Sacl (5 unrelated individuals screened for each enzyme). Chromosomal Localization: BPGM has been assigned to 7q31-q34 (3). Mendelian lnheritance: Codominant segregation detected in all 40 CEPH families. Probe Availability: Available from NCD at the above address. Other Comments: Multipoint linkage analysis of the Mspl polymorphism on the 40 CEPH reference families showed that BPGM is located in the interval between MET (7q3l) and TCRB (7q35) and that it is tightly linked to D7S93 (theta = 0.03, LOD = 10.5). Acknowledgement: This work was supported by NIH grant CA-44176. References: (1) Joulin,V. etal. (1986) EMBOJ. 5, 2275-2283; (2) Sakoda,S. et al. (1988) J. Biol. Chem. 263, 16899-16905; (3) Barichard,F. et al. (1987) Hum. Genet. 77, 283-285. A VNTR polymorphism, 018110, at 1q21 -1q31 B.Huey, J.M.Hall, M.-C.King School of Public Hea~h. University of California, Berkeley, CA 94720, USA Source and Description ofClone: pBH516 consists of a 2.2 kb EcoRI-Sacl fragment subcloned into pUC19. pBH516 was isolated from a chromosome 1 partial-Mbol-digested library in vector EMBL-3 (Lebo et al., 1986). pBH516 was obtained by screening with the core minisatellite in lambda33.6 (Jeffreys, Wilson and Thein, 1985), as part of a search for VNTRs. Polymorphism: BarnHI identifies multiple alleles in the range of 5.5-6.5 kb. Frequency: pBH516 detects a human VNTR site with many closely spaced alleles. The proportion of CEPH grandparents heterozygous is 0.625. 204 chromosomes were examined. Not Polymorphie For: EcoRI, Hindlll, Hinfl, Mbol, Mspl, Pstl, Pvull. Chromosomal Location: Between ATP1A2 (lq21-q23) and D1S61 (lq25-q31), based on pedigree analysis in the CEPH families. Mendelian /nheritance: Codominant segregation observed in 6 CEPH families. Probe Availability: Available without restriction. Other Comments: Alleles are closely spaced and are best resolved by extended electrophoresis. Acknowledgements: Supported in part by NIH grant CA27632, including a supplement from the Human Genome Project. References: Jeffreys,A.J., Wilson,V. and Thein,S.L. (1985) Nature 314, 67-73; (2) ebo,R.V., Anderson,L.A., Lau,Y.F.C., Flandermeyer,R. and Kan,Y.W. (1986) Cold Spring Harbor Symp. Quant. Biol. 51, 169-176. 

Taql and Mspl RFLPs are detected by the human 2,3-biphosphoglycerate mutase (BPGM) cDNA

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Taql and Mspl RFLPs are detected by the human 2,3-biphosphoglycerate mutase (BPGM) cDNA

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