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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
Authors:Shunji Tomatsu  Seiji Fukuda  Atsushi Uchiyama  Toshinori Hori  Yoshinori Nakashima  Kazuko Sukegawa  Naomi Kondo  Yasuyuki Suzuki  Nobuyuki Shimozawa  Tadao Orii
Institution:(1) Molecular Genetics Department, IRO Cancer Research Institute, Hospital Duran i Reynals, Autovia de Castelldefels km 2.7, Hospitalet de Llobregat, E-08907 Barcelona, Spain
Abstract:A novel polymorphism (6376 G/T) in intron 7 (I7) of the human PROC gene has been identified by direct DNA sequencing. Restriction analysis with the use of mutagenic primers indicate that the allele frequencies are 0.17 (allele T) and 0.83 (allele G), with a calculated heterozygosity of 28%.
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