1720 Nucleic Acids Research, Vol. 19, No. 7
A Taql polymorphism detected by a genomic clone at the locus D5S39 (5q11 -13)
Kpnl RFLP at the human muscletype phosphofructokinase (PFKM) gene locus
B.S.Mankoo, G.Melmer, G.Kalsi, R.Sherrington and H.M.D.Gurling Department of Academic Psychiatry, University College and Middlesex School of Medicine, Riding House Street, London WlN 8AA, UK
F.T.Dionne, J.Grondin and C.Bouchard Physical Activity Sciences Laboratory, Laval University, Qu6bec GlK 7P4, Canada
Summary: A further RFLP was identified by a phage clone obtained by screening a genomic library with the probe p105-153 (D5S39). Source/Description: Phage clone 153/06-13.2 was isolated after screening a genomic library made in EMBL-3 (Clontech Laboratories, Inc.) with the probe p105-153. Polymorphism: TaqI identifies a two allelic RFLP with polymorphic bands at 3.6 kb (D1) and 2.3 + 1.3 kb (D2) (Figure
1). Frequencies: Studies of 38 unrealted European Caucasians showed allele frequencies of 28 (37%) (A) and 48 (63*) (B). Not Polymorphic For: BamHI, Bcll, Bgll, Bglil, EcoRI, Haeil, HiticlI, HindI, HinfI, Pvull, RsaI, Sacd, Sau3A, Stul, XmnI using DNA from eight unrelated individuals. Chromosomal Localization: The probe p105 -153 has been previously localized to Sql -13 (1). Mendelian Inheritance: Codominant Mendelian inheritance was observed in three large families with a total of 33 children. Availability: The probe is available for collaboration from H.M.D.Gurling. Other Comments: To block repeated sequences the labeled probe was prehybridized with sonicated human placental DNA (2). Filters were washed at a final stringency of 0.5 x SSC/0. 1% SDS at 650C. Acknowledgements: This work was supported by the Wellcome Trust, the Medical Research Council and Merck, Sharp &Dohme. References: 1) Alitalo,T. et al. (1987) Cytogenet. Cell. Genet. 46, 570. 2) Sealey,P.G., 1 Whittaker,P.A. and Southern,E.M. (1985) Nucl. Acids Res. 13, 1905-1922.
Source/Description: PCHPFKM1, a 2.86-kb cDNA clone, contains 76 bp of 5′-untranslated sequence, 2340 bp encoding human muscle PFK, and 399 bp of 3′- untranslated sequence plus a poly(A) tract (1). This clone was a generous donation from Dr Alan McLachlan (1). Polymorphism: KpnI identifies a two-allele polymorphism with fragments of 17 (allele 1) and 11 and 7.2 kb (allele 2) and a constant fragment of 14 kb. Frequency: Studied in 34 unrelated Caucasians. 17 kb allele (1): 0.69 11 and 7.2 kb allele (2): 0.31 Not Polymorphic For: AvaIH, BamHI, BanI, BglII, DraI, EcoRI, EcoRV, Hincd, Hindlll, MspI, NcoI, PstI, Scal, SstI and XmnI with DNA from a panel of 18 subjects. Chromosomal Location: The PFKM locus has been mapped to 1 cen-q32. Mendelian Inheritance: Co-dominant autosomal segregation was observed in a 2 generation family of 9 members and in 3 families of 4 members. Probe Availability: Available from Dr Alan McLachlan (1). Acknowledgement: This research was supported by a grant from
FCAR-Quebec. Reference: 1) Sharma,P.M., Reddy,G.R., Vora,S., Babior,B.M. and McLachlan,A. (1989) Gene 77, 177-183.
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