Akane A, Kobayashi T, Li Z X, Yoshimura S, Okii Y, Yoshida M, Tokiyasu T, Watabiki T
Department of Legal Medicine, Kansai Medical University, Moriguchi, Japan.
Jpn J Hum Genet. 1997 Dec;42(4):489-98. doi: 10.1007/BF02767025.
PCR-based genotyping of MNSs blood group system was investigated in combination with restriction fragment length polymorphism (RFLP), single-stand conformation polymorphism (SSCP) and allele-specific PCR amplification (ASPA) techniques. M and N alleles are based on three nucleotide substitutions in exon 2 and one base change (G or T) in an intron of glycophorin A locus. The latter single base change was also found among M alleles analyzed in this study, so that M allele appeared to be subdivided into MG and MT. All three alleles, MG, MT and N were identified clearly by RFLP or SSCP analysis following a single amplification. S and s alleles are based on one nucleotide substitution in exon 3 of glycophorin B gene. Genotyping of Ss blood group system was also explored by PCR-SSCP or ASPA analysis, and problems in the methods were discussed.
结合限制性片段长度多态性（RFLP）、单链构象多态性（SSCP）和等位基因特异性PCR扩增（ASPA）技术，对MNS血型系统进行基于PCR的基因分型研究。M和N等位基因基于糖蛋白A基因座第2外显子中的三个核苷酸取代和一个内含子中的一个碱基变化（G或T）。在本研究分析的M等位基因中也发现了后一种单碱基变化，因此M等位基因似乎可细分为MG和MT。通过单次扩增后的RFLP或SSCP分析可清楚地鉴定出MG、MT和N这三个等位基因。S和s等位基因基于糖蛋白B基因第3外显子中的一个核苷酸取代。还通过PCR-SSCP或ASPA分析对Ss血型系统进行基因分型，并讨论了这些方法中存在的问题。
