ABO blood group in Kuwaitis: detailed allele frequency distribution and identification of novel alleles.

BACKGROUND: The ABO blood group is clinically the most important blood group system and can now be genotyped easily by DNA-based methods without family studies. STUDY DESIGN AND METHODS: Samples (n = 166) from a Kuwaiti population were phenotyped by standard serologic techniques for the ABO blood gr...

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Publicado en:Transfusion Vol. 46; no. 5; pp. 773 - 780
Autores principales: Yip SP, Choi PS, Lee SY, Leung KH, El-Zawahri MM, Luqmani YA
Formato: Journal Article
Publicado: Wiley-Blackwell May2006
Acceso en línea:Ver este registro en EBSCOhost
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      dt: May2006
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      pub: Wiley-Blackwell
      place: Malden, Massachusetts
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        atl: ABO blood group in Kuwaitis: detailed allele frequency distribution and identification of novel alleles.
      aug:
        au:
          Yip SP
          Choi PS
          Lee SY
          Leung KH
          El-Zawahri MM
          Luqmani YA
        affil: Department of Health Technology and Informatics, Faculty of Health and Social Sciences, The Hong Kong Polytechnic University, Hong Kong SAR, China. shea.ping.yip@polyu.edu.hk
      sug:
        subj:
          ABO Blood-Group System
          Alleles
          Polymorphism, Genetic
          Amino Acids
          Chromosomes
          Genes
          Genotype
          Kuwait
          Sequence Analysis
      ab: BACKGROUND: The ABO blood group is clinically the most important blood group system and can now be genotyped easily by DNA-based methods without family studies. STUDY DESIGN AND METHODS: Samples (n = 166) from a Kuwaiti population were phenotyped by standard serologic techniques for the ABO blood group and genotyped for the ABO locus by an established multiplex polymerase chain reaction protocol followed by single-strand conformation polymorphism (SSCP) analysis. Nonstandard SSCP patterns were investigated by DNA sequencing of exons 6 and 7 and, if necessary intron 6. RESULTS: Standard SSCP patterns identified six classical alleles in this population: A101 (0.1115), A102 (0.0181), A201 (0.0301), B101 (0.1627), O101 (0.3103), and O201 (0.2500). One A, 1 B, and 8 O variant alleles were identified (total frequency, 0.1175). All variant alleles were each present in one or two chromosomes (< or =0.0060) in our samples except O109 (0.0813). Three of these 10 variant alleles were novel alleles defined by newly identified single-nucleotide polymorphisms in exon 7 (527G>A, 687C>T, and 1116G>A). One new base substitution result in amino acid change. CONCLUSIONS: This is the first study reporting the detailed distribution of ABO alleles and genotypes in Kuwaitis. Sixteen alleles were identified, including 3 novel alleles.
      pubtype: Academic Journal
      doctype: Journal Article
      ougenre: Article
    language: English
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