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首页> 外文期刊>Genomics >Simultaneous screening for three mutations in the ABCB1 gene.
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Simultaneous screening for three mutations in the ABCB1 gene.

机译：同时筛选ABCB1基因中的三个突变。

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摘要

A noncoding C3435T mutation in exon 26 of the ABCB1 gene was found to be often associated with a G2677T(A) mutation in exon 21 encoding an Ala893Ser P-glycoprotein and with a noncoding C1236T mutation in exon 12. We developed a Pyrosequencing screening method that simultaneously detects all three mutations. After separate PCRs for each exon, the sequences around the potentially mutated nucleotide positions were simultaneously analyzed in a multiplex assay. The method was tested with DNA from 100 volunteers. Allele frequencies of the T1236, T2677, and T3435 alleles were 44, 42, and 50%, respectively. A mutation at position 3435 occurred together with a mutation at position 2677 or 1236 in 64 and 65% of the subjects, respectively. The most frequent haplotype, with 44.4%, was not mutated at all three positions, i.e., C1236, G2677, C3435. The second most frequent haplotype, with 37.1%, was mutated at all three positions, i.e., T1236, T2677, T3435. The most frequent genotype, with 36%, was heterozygously mutated at all three positions, i.e., C/T1236, G/T2677, C/T3435. The next most frequent genotypes were a homozygous nonmutated genotype, with 20%, and a homozygous mutated genotype, with 13%.
机译：发现ABCB1基因第26外显子的非编码C3435T突变经常与编码Ala893Ser P糖蛋白的第21外显子的G2677T（A）突变以及第12外显子的非编码C1236T突变相关。同时检测所有三个突变。在对每个外显子进行单独的PCR后，在多重分析中同时分析了潜在突变核苷酸位置周围的序列。用来自100名志愿者的DNA测试了该方法。 T1236，T2677和T3435等位基因的等位基因频率分别为44％，42％和50％。在64和65％的受试者中，分别发生了3435位的突变和2677位或1236位的突变。频率最高的单倍型（44.4％）并未在所有三个位置（C1236，G2677，C3435）发生突变。第二个最常见的单倍型（占37.1％）在所有三个位置（即T1236，T2677，T3435）进行了突变。最常见的基因型（36％）在所有三个位置（即C / T1236，G / T2677，C / T3435）杂合突变。接下来最常见的基因型是纯合的非突变基因型（占20％）和纯合的突变基因型（占13％）。

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