Open AccessMultiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for IdentifyingATP7BMutations and Phenotype Correlations in Children with Wilson Disease
Author(s) -
Jung Ok Shim,
Hye Ran Yang,
Jin Soo Moon,
Ju Young Chang,
Jae Sung Ko,
Sung Sup Park,
Jeong Kee Seo
Publication year - 2018
Publication title -
journal of korean medical science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.743
H-Index - 66
eISSN - 1598-6357
pISSN - 1011-8934
DOI - 10.3346/jkms.2018.33.e177
Subject(s) - multiplex ligation dependent probe amplification , genetics , biology , multiplex , allele , frameshift mutation , mutation , dna sequencing , gene duplication , compound heterozygosity , microbiology and biotechnology , dna , gene , exon
MLPA showed a limited role to increase the mutation detection rate in children who do not receive a definite genetic diagnosis of WD through DNA full sequencing. This finding suggests that large deletions or duplications might be extremely rare in WD. Further development is needed to improve the genetic diagnosis of WD.
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