LINKAGE ANALYSIS OF THREE HETEROZYGOUS MUTATIONS FOUND IN HUMAN CYP3A4 GENE SEPARATED BY LONG DISTANCES

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HAMZEHEI H.; DASTMALCHI S.

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Journal: PHARMACEUTICAL SCIENCES Year:2006 | Volume:- | Issue:4 Page(s): 63-69

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Title

LINKAGE ANALYSIS OF THREE HETEROZYGOUS MUTATIONS FOUND IN HUMAN CYP3A4 GENE SEPARATED BY LONG DISTANCES

Author(s)

HAMZEHEI H. | DASTMALCHI S. | Issue Writer Certificate

Keywords

LONG-RANGE ALLELE-SPECIFIC PCRQ2

CLONINGQ3

CYP3A4 GENEQ2

Abstract

Objectives: In order to determine whether the three heterozygous CYP3A4 GENE mutations (a 9 bp insertion at -845, an A→G transition at -392 and a G→ A transition at +14269) found in genomic DNA amplification from one subject were in the same allele, linkage analysis was performed. Methods: An initial amplification and CLONING (using pSEAP-Basic plasmid, Clontech) of the 5'-proximal promoter region (-1201/-61) was used to separate the alleles and determine if the two mutations in this region are linked. Using the recombinant plasmid DNAs as template, PCR amplification of 592 bp (to cover both mutations) of the CYP3A4 promoter (-929/-337) was performed and sent directly for sequencing. Following this, "long-range (-858/+14536) allele-specific PCR" was performed using specific primers discriminating the two alleles. Resulting PCR products were then used as templates after gel extraction and purification to amplify each corresponding exon 6. The exon 6 PCR products were then sequenced to identify on which allele the exon 6 mutation was present. Results: The results of CLONING and sequencing experiments on promoter region revealed that both mutations are in the same allele. The results obtained from "long-range allele specific PCR" again showed that all three mutations found in CYP3A4 GENE are in fact present on the same allele introducing a novel CYP3A4 allele "CYP3A4*15B". Conclusion: This work has revealed successful application of carefully designed CLONING and "LONG-RANGE ALLELE-SPECIFIC PCR" experiments to linkage analysis of mutations found in different locations of a gene.

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APA: Copy

HAMZEHEI, H., & DASTMALCHI, S.. (2006). LINKAGE ANALYSIS OF THREE HETEROZYGOUS MUTATIONS FOUND IN HUMAN CYP3A4 GENE SEPARATED BY LONG DISTANCES. PHARMACEUTICAL SCIENCES, -(4), 63-69. SID. https://sid.ir/paper/48736/en

Vancouver: Copy

HAMZEHEI H., DASTMALCHI S.. LINKAGE ANALYSIS OF THREE HETEROZYGOUS MUTATIONS FOUND IN HUMAN CYP3A4 GENE SEPARATED BY LONG DISTANCES. PHARMACEUTICAL SCIENCES[Internet]. 2006;-(4):63-69. Available from: https://sid.ir/paper/48736/en

IEEE: Copy

H. HAMZEHEI, and S. DASTMALCHI, “LINKAGE ANALYSIS OF THREE HETEROZYGOUS MUTATIONS FOUND IN HUMAN CYP3A4 GENE SEPARATED BY LONG DISTANCES,” PHARMACEUTICAL SCIENCES, vol. -, no. 4, pp. 63–69, 2006, [Online]. Available: https://sid.ir/paper/48736/en

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