Research Paper Volume 13, Issue 1 pp 1488—1497

Prenatal diagnosis of PLP1 duplication by single nucleotide polymorphism array in a family with Pelizaeus-Merzbacher disease

MLPA results. All peaks corresponding to the 7 exons of the PLP1 gene in the proband and his mother are higher than peaks in female control due to PLP1 gene duplication. The relative copy numbers for each PLP1 exon were shown. Fluorescence signal intensity between 0.7 and 1.25 is generally considered normal result. (A) MLPA results of the proband. (B) MLPA results of the pregnant mother. (C) MLPA results of the fetus.

Figure 4. MLPA results. All peaks corresponding to the 7 exons of the PLP1 gene in the proband and his mother are higher than peaks in female control due to PLP1 gene duplication. The relative copy numbers for each PLP1 exon were shown. Fluorescence signal intensity between 0.7 and 1.25 is generally considered normal result. (A) MLPA results of the proband. (B) MLPA results of the pregnant mother. (C) MLPA results of the fetus.