Summary
ATP synthase (F0F1) is a proton-translocating ATPase which is composed of two moieties, an intrinsic membrane sector (F0) and an extrinsic membrane sector (F1). ATP synthesis is catalyzed by the F1 beta subunit. This paper reports restriction fragment length polymorphism (RFLP) of the human F1 beta subunit gene identified with a cloned cDNA as a probe. Genomic DNAs from 27 unrelated Japanese individuals were analyzed by Southern blot hybridization. RFLP characterized by polymorphic bands at 3.2, 1.7, and 1.5 kilobase-pairs (kbp) was detected inPstI digests of the DNAs, and three genotypes were identified. Of the 27 persons, 16 (59%) were homozygous for the 3.2 kbp band and two (8%) for both the 1.7 and 1.5 kbp bands; the other nine persons (33%) were heterozygous for these band. Memdelian inheritance of thePstI polymorphic bands was shown in 12 members in three generations of one family. The copy number of the F1 beta subunit gene was determined as one.
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Hasegawa, K., Ohta, S., Narisawa, K. et al. PstI fragment polymorphism in the gene of the human ATP synthase beta subunit. Jap J Human Genet 32, 275–281 (1987). https://doi.org/10.1007/BF01910282
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DOI: https://doi.org/10.1007/BF01910282