Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy.

Preimplantation Diagnosis of Duchenne Muscular Dystrophy

“…In our single cell analysis, we found the amplification success rate to be 80%. Our results are in agreement with those of Holding et al, who described amplification success rates of 67-89% in a single cell deletion analysis of the dystrophin gene, and 97-100% in two cell analysis, and suggested two blastomeres would be necessary and sufficient for reliability PGD [35]. High amplification efficiency of exon 17 was reported by Liu et al to be almost 100% in 50 blastomeres [14].…”

“…STR50 is a CA repeat in intron 50 with a heterozygosity of 71.6%, and is thus of value as a marker for PCR cont amination as well as f or linkage analysis. Amplification success rate of STR50 in a single buccal cell was 67% [35].…”

“…The first approach is gender determination of embryos by either PCR or a fluorescence in situ hybridization (FISH)-based method [1,[3][4][5]. The second approach is diagnosis of specific gene mutation, which is attempted by a PCR-based method [14,35,36]. The third approach is linkage analysis by means of linked markers [35].…”

“…The second approach is diagnosis of specific gene mutation, which is attempted by a PCR-based method [14,35,36]. The third approach is linkage analysis by means of linked markers [35].…”

Molecular Diagnostics in Preimplantation Genetic Diagnosis

“…Any deviation from these possibilities indicates the presence of contaminating DNA. 62,80,116,117 The polymorphic nature of STR markers also permits the detection of haploidy and uniparental disomy. For these reasons many groups involved in PGD are now attempting to incorporate polymorphic markers into their molecular diagnoses.…”