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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Hori, T. Yamagishi, A. Wraith, J. F. Fukuda, S. Cooper, A. Kato, Z. Yamada, N. Isogai, K. Sukegawa, K. Suzuki, Y. Shimozawa, N. Kondo, N. Tomatsu, S. Orii, T. |
| Description | Country affiliation: Japan Author Affiliation: Tomatsu S ( Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan.) |
| Abstract | We report four new mutations in Japanese patients with mucopolysaccharidosis IVA (MPSIVA) who were heterozygous for a common double gene deletion. A nonsense mutation of CAG to TAG at codon 148 in exon 4 was identified, resulting in a change of Q to a stop codon and three missense mutations. V (GTC) to A (GCC) at codon 138 in exon 4, P (CCC) to S (TCC) at codon 151 in exon 5, and P (CCC) to L (CTC) at codon 151 in exon 5. Introduction of these mutations into the normal GALNS cDNA and transient expression in cultured fibroblasts resulted in a significant decrease in the enzyme activity. V138A and Q148X mutations result in changes of restriction site, which were analyzed by restriction-enzyme assay. P151S and P151L mutations that did not alter the restriction site were detected by direct sequencing or allele specific oligohybridization. Detection of the double gene deletion was initially done using Southern blots and was confirmed by PCR. Haplotypes were determined using seven polymorphisms to the GALNS locus in families with the double gene deletion. Haplotype analysis showed that the common double gene deletion occurred on a single haplotype, except for some variation in a VNTR-like polymorphism. This finding is consistent with a common founder for all individuals with this mutation. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 5 |
| Volume Number | 58 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1996-05-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Chondroitinsulfatases Deficiency Exons Genetics Mucopolysaccharidosis Iv Adolescent Amino Acid Sequence Child, Preschool Gene Deletion Molecular Sequence Data Enzymology Etiology Point Mutation Polymerase Chain Reaction Sequence Analysis Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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