AN EFFICIENT TRIO-BASED MINI-HAPLOTYPING METHOD FOR GENETIC DIAGNOSIS OF PHENYLKETONURIA

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TALEBI SAEED; ENTEZAM MONA; MOHAJER NEDA; KAZEMI SEFAT GOLNAZ ENSIEH; RAZIPOUR MASOUMEH; AHMADLOO SOMAYEH; SETOODEH ARIA; KERAMATIPOUR MOHAMMAD

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Journal: Cell Journal (Yakhteh) Year:2016 | Volume:18 | Issue:2 (70) Page(s): 229-236

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Title

AN EFFICIENT TRIO-BASED MINI-HAPLOTYPING METHOD FOR GENETIC DIAGNOSIS OF PHENYLKETONURIA

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Keywords

MICROSATELLITE REPEATS

FLUORESCENT DYES

CAPILLARY ELECTROPHORESIS

DIAGNOSTIC ERROR

PHENYLALANINE HYDROXYLASE

Abstract

Objective: The PHENYLALANINE HYDROXYLASE (PAH) locus has high linkage disequilibrium. Haplotypes related to this locus may thus be considered sufficiently informative for genetic diagnosis and carrier screening using multi-allelic markers. In this study, we present an efficient method for haplotype analysis of PAH locus using multiplexing dyes. In addition, we explain how to resolve the dye shift challenge in multiplex short tandem repeat (STR) genotyping.Materials and Methods: One hundred family trios were included in this descriptive study. The forward primer of a tetra-nucleotide STR and the reverse primer of a variable number tandem repeat (VNTR) were labeled with three different non-overlapping dyes 5-carboxyfluorescein (FAM), 6-carboxy-N, N, N’, N’-tetramethylrhodamine (HEX) and 6-carboxy-N, N, N’, N’-tetramethylrhodamine (TAMRA). The polymerase chain reaction (PCR) products from each family trio were multiplexed for CAPILLARY ELECTROPHORESIS and results were analyzed using Peak Scanner software.Results: Multiplexing trio products decreased the cost significantly. The TAMRA labeled products had a significant predictable shift (migrated at a slower electrophoretic rate) relative to the HEX and FAM labeled products. Through our methodology we achieve, the less inter-dye shift than intra-dye shift variance. Correcting the dye shift in the labeled products, according to the reference allele size, significantly decreased the inter-dye variability (P<0.001).Conclusion: Multiplexing trio products helps to detect and resolve the dye shift accurately in each family, which otherwise would result in DIAGNOSTIC ERROR. The dye system of FAM, HEX and TAMRA is more feasible and cheaper than other dye systems.

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APA: Copy

TALEBI, SAEED, ENTEZAM, MONA, MOHAJER, NEDA, KAZEMI SEFAT, GOLNAZ ENSIEH, RAZIPOUR, MASOUMEH, AHMADLOO, SOMAYEH, SETOODEH, ARIA, & KERAMATIPOUR, MOHAMMAD. (2016). AN EFFICIENT TRIO-BASED MINI-HAPLOTYPING METHOD FOR GENETIC DIAGNOSIS OF PHENYLKETONURIA. CELL JOURNAL (YAKHTEH), 18(2 (70)), 229-236. SID. https://sid.ir/paper/689481/en

Vancouver: Copy

TALEBI SAEED, ENTEZAM MONA, MOHAJER NEDA, KAZEMI SEFAT GOLNAZ ENSIEH, RAZIPOUR MASOUMEH, AHMADLOO SOMAYEH, SETOODEH ARIA, KERAMATIPOUR MOHAMMAD. AN EFFICIENT TRIO-BASED MINI-HAPLOTYPING METHOD FOR GENETIC DIAGNOSIS OF PHENYLKETONURIA. CELL JOURNAL (YAKHTEH)[Internet]. 2016;18(2 (70)):229-236. Available from: https://sid.ir/paper/689481/en

IEEE: Copy

SAEED TALEBI, MONA ENTEZAM, NEDA MOHAJER, GOLNAZ ENSIEH KAZEMI SEFAT, MASOUMEH RAZIPOUR, SOMAYEH AHMADLOO, ARIA SETOODEH, and MOHAMMAD KERAMATIPOUR, “AN EFFICIENT TRIO-BASED MINI-HAPLOTYPING METHOD FOR GENETIC DIAGNOSIS OF PHENYLKETONURIA,” CELL JOURNAL (YAKHTEH), vol. 18, no. 2 (70), pp. 229–236, 2016, [Online]. Available: https://sid.ir/paper/689481/en

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