Abstract
We describe two common single-base polymorphisms of the N-acetylgalactosamine-6-sulfate sulfatase gene after StyI or StuI restriction sites. These polymorphisms were readily detected by single-strand conformation polymorphism (SSCP), using the polymerase chain reaction (PCR).
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Masuno M, Tomatsu S, Nakashima Y, Hori T, Fukuda S, Masue M, Sukegawa K, Orii T (1993) Mucopolysaccharidosis IVA: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. Genomics 16: 777–778
Nakashima Y, Tomatsu S, Hori T, Fukuda S, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T (1994) Mucopolysaccharidosis IVA: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5′-flanking region. Genomics 20: 99–104
Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, Hanyu Y, Hashimoto T, Yagi K, Hayashi Y, Titani T, Oyama R, Suzuki M, Orii T (1991) Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun 181: 677–684
Tomatsu S, Fukuda S, Masue M, Sukegawa K, Masuno M, Orii T (1992) Mucopolysaccharidosis type IVA: characterization and chromosomal localization of N-acetylgalactosamine-6-sulfate sulfatase gene and genetic heterogeneity. Am J Hum Genet 51 [Suppl]: A178
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Tomatsu, S., Fukuda, S., Uchiyama, A. et al. Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages. Hum Genet 95, 243–244 (1995). https://doi.org/10.1007/BF00209415
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DOI: https://doi.org/10.1007/BF00209415