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

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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Bibliographic Details
Published in:Human genetics 1995-02, Vol.95 (2), p.243-244
Main Authors: TOMATSU, S, FUKUDA, S, UCHIYAMA, A, HORI, T, NAKASHIMA, Y, SUKEGAWA, K, KONDO, N, SUZUKI, Y, SHIMOZAWA, N, ORII, T
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Carbohydrates (enzymatic deficiencies). Glycogenosis
Chondroitinsulfatases - genetics
deoxyribonuclease StuI
deoxyribonuclease StyI
Deoxyribonucleases, Type II Site-Specific
Errors of metabolism
GALNS gene
Humans
man
Medical sciences
Metabolic diseases
Molecular Sequence Data
Morquio's syndrome
N-acetylgalactosamine-6-sulfatase
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
single-strand conformation polymorphism
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Description
Summary: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).
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00209415