A Novel Ael Allele Derived from a Unique 816insG in Exon 7 of the ABO Gene
| Autor: | Ying-Ju Chen, Jeong-Shi Lin, Hsueng-Mei Liu, Yung-Tai Ho, Pei-Shan Chen, Cheng-Hwai Tzeng, Hui-Yu Hu, Jau-Yi Lyou |
|---|---|
| Jazyk: | angličtina |
| Předmět: |
Male
media_common.quotation_subject Taiwan Cis AB ABO gene Biology Polymerase Chain Reaction Frameshift mutation ABO Blood-Group System Exon ABO blood group system Humans Allele Frameshift Mutation Alleles media_common Dominance (genetics) Genetics Medicine(all) Daughter lcsh:R5-920 General Medicine Exons Middle Aged Molecular biology Phenotype Pedigree molecular genetic analysis novel Ael allele Female lcsh:Medicine (General) |
| Zdroj: | Journal of the Formosan Medical Association, Vol 106, Iss 11, Pp 969-974 (2007) |
| ISSN: | 0929-6646 |
| DOI: | 10.1016/S0929-6646(08)60070-4 |
| Popis: | The ABO blood group system is the most important blood group system in transfusion medicine. In addition to the major A, B and O alleles, many rare alleles with weak expression of the A or B antigens on RBCs have been defined. We report here the molecular analysis of a novel A(el) allele. Exons 6 and 7 of the ABO gene were PCR-amplified, cloned and sequenced for the propositus, Mr C, who is a 56-year-old Taiwanese male and was incidentally observed to have an A(el) phenotype. His direct family members including wife, son and daughter were subsequently enrolled for further study. Three hundred random blood donors of AB phenotype served as control. A novel A(el) allele was uncovered from the propositus and his daughter, of which a unique 816insG mutation occurred on the A102 background that results in a frame shift leading to a 37-amino acid longer polypeptide than the normal A1 transferase, a finding similar to that of Ael01 allele with 804insG. We found that the C family carried a novel A(el) allele that differs molecularly from seven A(el) alleles reported in the literature. |
| Databáze: | OpenAIRE |
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