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[血液系统疾病中ABO血型转变患者的血型基因分型]

[Blood genotyping of patients with ABO-group transformations in hematologic disorders].

作者信息

Iwasaki M, Kobayashi K, Suzuki H

机构信息

Department of Laboratory Medicine, National Defense Medical College.

出版信息

Rinsho Ketsueki. 1996 Feb;37(2):116-22.

PMID:8852028
Abstract

Blood genotyping was performed in three patients with ABO-group transformation hematological disorders. Serological examinations revealed the following A-subtype transformations: case 1 was AML with A3B; case 2 was RAEB in transformation with A3; case 3 was AML with Alnt. Polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analysis of the area flanking the two points 261 and 796 of the cDNA coding region revealed the genotypes of cases 1, 2 and 3 to be AB, AO, and AA, respectively. Four points in the cDNA coding region (467, 526, 703, and 871) were analyzed by PCR-RFLP to detect A-subtype-specific substitutions. Nucleotide position 467 is the substitution site for A-subtype allelic cDNA and 871 is the substitution site for the A3-subtype. At nucleotide positions 526 and 703, non-isosemantic substitutions are known to take place between the A1 and Aint alleles. No nucleotide substitutions specific to A-subtypes in this region were detected in any of the three cases. Thus, ABO blood group genotyping may be a useful way to distinguish between subtypes and transformations of phenotype.

摘要

对3例患有ABO血型转变血液系统疾病的患者进行了血型基因分型。血清学检查显示出以下A亚型转变情况:病例1为伴有A3B的急性髓系白血病(AML);病例2为转变中的骨髓增生异常综合征伴原始细胞过多(RAEB)且为A3型;病例3为伴有Aint的AML。采用聚合酶链反应(PCR),随后对编码区cDNA的261和796两点侧翼区域进行限制性片段长度多态性(RFLP)分析,结果显示病例1、2和3的基因型分别为AB、AO和AA。通过PCR-RFLP分析编码区cDNA中的四个位点(467、526、703和871)以检测A亚型特异性替换。核苷酸位置467是A亚型等位基因cDNA的替换位点,871是A3亚型的替换位点。在核苷酸位置526和703处,已知A1和Aint等位基因之间会发生非同义替换。在这三例病例中,该区域均未检测到A亚型特异性核苷酸替换。因此,ABO血型基因分型可能是区分表型亚型和转变的一种有用方法。

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