OBJECTIVES: Genetic typing of the intronic (CA)n loci within the dystrophin gene was exploited for linkage analysis and diagnosis of carrier status. DESIGN AND METHODS: IP-RP-HPLC was developed for genotyping of 98 chromosomes. RESULTS: The typing of 2-bp STRs with mean SD of +/- 0.43 bp ensured an allele's identity with 99.7% confidence. CONCLUSION: The automation enabled the accurate sizing of unlabeled alleles with an excellent reproducibility of 100% with significant labor saving and reduced reagent costs.
OBJECTIVES: Genetic typing of the intronic (CA)n loci within the dystrophin gene was exploited for linkage analysis and diagnosis of carrier status. DESIGN AND METHODS: IP-RP-HPLC was developed for genotyping of 98 chromosomes. RESULTS: The typing of 2-bp STRs with mean SD of +/- 0.43 bp ensured an allele's identity with 99.7% confidence. CONCLUSION: The automation enabled the accurate sizing of unlabeled alleles with an excellent reproducibility of 100% with significant labor saving and reduced reagent costs.
Authors: Nasser A Elhawary; Essam H Jiffri; Samira Jambi; Ahmad H Mufti; Anas Dannoun; Hassan Kordi; Asim Khogeer; Osama H Jiffri; Abdelrahman N Elhawary; Mohammed T Tayeb Journal: Hum Genomics Date: 2018-04-10 Impact factor: 4.639