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- W2385353669 abstract "Rationale Due to their functional relevance, single nucleotide polymorphisms (SNPs) and short tandem repeats (STRs) have been used in association studies of complex diseases. The combination of both types of polymorphisms in short genomic regions ( ) was used to design SNPSTR primers as well as the complimentary fluorescently labeled primers for SNP alleles. A three-step direct haplotyping method was performed as follows: (1) coamplification of the genomic regions of interest by multiplex PCR, (2) linear amplification of the amplicons with FAM- and HEX-labeled fluorescent primers, and (3) identification of haplotypes by GeneMapper software v3.7. Results Three candidate genes ( IL-10 , HMOX-1 , and CXCL2 ) were identified with reported functionally relevant SNPSTRs and were arranged into a multiplex protocol. Genotyped variants were -1087 G/A SNP and the -1121 CA n STR for IL-10 , -413 A/T SNP and the -199 GT n for HMOX-1 , and -437 A/G SNP and the -665 CA n STR for CXCL2 . A Coriell CEPH DNA panel, consisting of individuals of European and African American decent (23 and 24 individuals, respectively), was then used to develop our haplotyping method. SNP alleles and STR repeats were confirmed with direct DNA sequencing. Conclusion This SNPSTR method represents an efficient and robust approach to obtain direct haplotypes in three candidate genes, which will advantage association studies of genetic variants in ALI. Funding: Specialized Centers of Clinically Oriented Research P50 HL-073994 and Fundacion Canaria Dr. Manuel Morales." @default.
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- W2385353669 date "2006-03-01" @default.
- W2385353669 modified "2023-09-23" @default.
- W2385353669 title "66 A DIRECT HAPLOTYPING METHOD OF PUTATIVE FUNCTIONAL VARIANTS IN PROMOTER REGIONS OF THREE CANDIDATE GENES IN ACUTE LUNG INJURY." @default.
- W2385353669 doi "https://doi.org/10.2310/6650.2005.x0015.65" @default.
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