| C to T transition at the first nucleotide of codon 63 of the beta-globin gene corresponding to hemoglobin M-Saskatoon in an Indonesian boy. | |
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MedLine Citation:
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PMID: 7663000 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hemoglobin (Hb) M-Saskatoon, a beta variant of methemoglobin, is characterized by mild hemolysis. It is caused by the substitution of a histidine by a tyrosine at the 63rd amino acid residue of the beta-globin chain. Amplification and sequence analysis of genomic beta-globin DNA from an Indonesian boy diagnosed as having the more severe disease thalassemia demonstrated the presence of a C to T transition at nucleotide 473 in one of the two beta-globin genes resulting in a histidine to tyrosine substitution at 63rd residue. This amino acid change matched with that reported in Hb M-Saskatoon. This nucleotide change abolished a recognition site for the restriction endonuclease NlaIII. NlaIII digestion of the corresponding beta-globin DNA amplified from the patient's parents indicated that the mutation was inherited through from his mother. This result shows that the world-wide distribution of Hb M-Saskatoon extends to Indonesia, where it was not previously identified. Possible causes of the unusually severe symptoms observed in the case are discussed. |
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Authors:
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P Suryantoro; Y Takeshima; A Haryanto; M Matsuo |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The Japanese journal of human genetics Volume: 40 ISSN: 0916-8478 ISO Abbreviation: Jpn. J. Hum. Genet. Publication Date: 1995 Jun |
Date Detail:
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Created Date: 1995-10-10 Completed Date: 1995-10-10 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9213239 Medline TA: Jpn J Hum Genet Country: JAPAN |
Other Details:
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Languages: eng Pagination: 195-201 Citation Subset: IM |
Affiliation:
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Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Base Sequence Child Codon Globins / genetics* Hemoglobins, Abnormal / genetics* Humans Indonesia Male Molecular Sequence Data Nucleotides / genetics* Point Mutation* beta-Thalassemia / genetics |
| Chemical | |
Reg. No./Substance:
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0/Codon; 0/Hemoglobins, Abnormal; 0/Nucleotides; 69670-54-8/hemoglobin Saskatoon; 9004-22-2/Globins |
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