Yip Shea Ping, Choi Pik Shan, Lee Sau Yin, Leung Kim Hung, El-Zawahri Mokhtar M, Luqmani Yunus A
Department of Health Technology and Informatics, Faculty of Health and Social Sciences, The Hong Kong Polytechnic University, Hong Kong SAR, China.
Transfusion. 2006 May;46(5):773-9. doi: 10.1111/j.1537-2995.2006.00796.x.
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.
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.
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.
This is the first study reporting the detailed distribution of ABO alleles and genotypes in Kuwaitis. Sixteen alleles were identified, including 3 novel alleles.
ABO血型系统是临床上最重要的血型系统，现在无需家族研究即可通过基于DNA的方法轻松进行基因分型。
采用标准血清学技术对科威特人群的样本（n = 166）进行ABO血型表型分析，并通过既定的多重聚合酶链反应方案对ABO基因座进行基因分型，随后进行单链构象多态性（SSCP）分析。通过对第6和第7外显子以及必要时对第6内含子进行DNA测序，研究非标准SSCP模式。
标准SSCP模式在该人群中鉴定出六个经典等位基因：A101（0.1115）、A102（0.0181）、A201（0.0301）、B101（0.1627）、O101（0.3103）和O201（0.2500）。鉴定出1个A、1个B和8个O变异等位基因（总频率为0.1175）。除O109（0.0813）外，所有变异等位基因在我们的样本中每个都存在于一条或两条染色体中（≤0.0060）。这10个变异等位基因中有3个是由第7外显子中新鉴定的单核苷酸多态性（527G>A、687C>T和1116G>A）定义的新等位基因。一个新的碱基替换导致氨基酸改变。
这是第一项报告科威特人ABO等位基因和基因型详细分布的研究。鉴定出16个等位基因，包括3个新等位基因。
