scholarly journals SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency

2016 ◽  
Vol 14 (6) ◽  
pp. 5189-5194 ◽  
Author(s):  
Han-Shi Zeng ◽  
Wei-Xia Lin ◽  
Shu-Tao Zhao ◽  
Zhan-Hui Zhang ◽  
Heng-Wen Yang ◽  
...  
Keyword(s):  
Cdna Cloning ◽  
Molecular Diagnosis ◽  
Peripheral Blood ◽  
Intrahepatic Cholestasis ◽  
Large Deletion ◽  
Peripheral Blood Lymphocytes ◽  
Deletion Mutation ◽  
Blood Lymphocytes ◽  
Citrin Deficiency

scholarly journals Identification of a LargeSLC25A13Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Qi-Qi Zheng ◽  
Zhan-Hui Zhang ◽  
Han-Shi Zeng ◽  
Wei-Xia Lin ◽  
Heng-Wen Yang ◽  
...  
Keyword(s):  
Cdna Cloning ◽  
Intrahepatic Cholestasis ◽  
Genomic Dna ◽  
Molecular Study ◽  
Large Deletion ◽  
Peripheral Blood Lymphocytes ◽  
Molecular Tools ◽  
Splicing Variants ◽  
Flanking Sequences ◽  
Citrin Deficiency

Background.Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a Mendelian disorder arising from biallelicSLC25A13mutations, andSLC25A13genetic analysis was indispensable for its definite diagnosis. However, conventionalSLC25A13analysis could not detect all mutations, especially obscure large insertions/deletions. This paper aimed to explore the obscureSLC25A13mutation in an NICCD infant.Methods.Genomic DNA was extracted to screen for 4 high-frequencySLC25A13mutations, and then all 18 exons and their flanking sequences were analyzed by Sanger sequencing. Subsequently, cDNA cloning, SNP analyses, and semiquantitative PCR were performed to identify the obscure mutation.Results.A maternally inherited mutation IVS16ins3kb was screened out, and then cDNA cloning unveiled paternally inherited alternative splicing variants (ASVs) featuring exon 5 skipping. Ultimately, a large deletion c.329-1687_c.468+3865del5692bp, which has never been described in any other references, was identified via intensive study on the genomic DNA around exon 5 ofSLC25A13gene.Conclusions.An NICCD patient was definitely diagnosed as a compound heterozygote of IVS16ins3kb and c.329-1687_c.468+3865del5692bp. The large deletion enriched theSLC25A13mutation spectrum, and its identification supported the concept that cDNA cloning analysis, along with other molecular tools such as semiquantitative PCR, could provide valuable clues, facilitating the identification of obscureSLC25A13deletions.

cDNA cloning of functional T cell receptor γ/δ chains expressed in human peripheral blood lymphocytes

1989 ◽  
Vol 19 (9) ◽  
pp. 1545-1549 ◽  
Author(s):  
Fathia Mami-Chouaib ◽  
Setsuko Jitsukawa ◽  
Florence Faure ◽  
Bruno Vasina ◽  
Catherine Genevee ◽  
...  
Keyword(s):  
T Cell ◽  
T Cell Receptor ◽  
Cdna Cloning ◽  
Peripheral Blood ◽  
Human Peripheral Blood ◽  
Cell Receptor ◽  
Peripheral Blood Lymphocytes ◽  
Blood Lymphocytes ◽  
Human Peripheral Blood Lymphocytes
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