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Cell Journal، جلد ۱۸، شماره ۲، صفحات ۲۲۹-۲۳۶
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چکیده فارسی مقاله
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عنوان انگلیسی An Efficient Trio-Based Mini-Haplotyping Method for Genetic Diagnosis of Phenylketonuria
چکیده انگلیسی مقاله 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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نویسندگان مقاله سعید طالبی | saeed talebi


مونا انتظام | mona entezam


ندا مهاجر | neda mohajer


گلناز انسیه کاظمی صفت | golnaz ensieh kazemi sefat


معصومه رضی پور | masoumeh razipour


سمیه احمدلو | somayeh ahmadloo


آریا ستوده | aria setoodeh


محمد کرامتی پور | mohammad keramatipour


نشانی اینترنتی http://celljournal.org/journal/article/abstract/4318
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/16/article-16-367089.pdf
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زبان مقاله منتشر شده en
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