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 ◽  
...  

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.

Biologia ◽  
2021 ◽  
Author(s):  
Basma Ouarti ◽  
Basma El Hamzaoui ◽  
Michal Stanko ◽  
Maureen Laroche ◽  
Oleg Mediannikov ◽  
...  

AbstractTicks are vector arthropods responsible for the transmission of several pathogenic agents that affect both human and animal health worldwide. In this study our objective was to analyse, using molecular tools, the bacterial community of Dermacentor reticulatus and Haemaphysalis inermis ticks collected in south-eastern Slovakia. Using real-time PCR, we identified the presence of Rickettsia spp. DNA at levels of 14/59 (23.72 %) and 29/173 (16.76 %) in D. reticulatus and H. inermis, respectively. In addition, using standard PCR and sequencing, we identified the presence of Rickettsia raoultii DNA in 13 ticks belonging to the two investigated species. Rickettsia raoultii blast results revealed an average identification percentage of 99.62 %. Following the results of this molecular study there is a possibility that D. reticulatus and H. inermis play a potential role in the transmission of R. raoultii. To prove the possibility of validity of this hypothesis, we suggest performing experimental models in future studies. Our results can serve as preliminary data for future transmission models.


2019 ◽  
Vol 43 (3) ◽  
pp. 467-477 ◽  
Author(s):  
Yiming Lin ◽  
Yaru Liu ◽  
Lin Zhu ◽  
Kaixing Le ◽  
Yuyan Shen ◽  
...  

2007 ◽  
Vol 22 (6) ◽  
pp. 952
Author(s):  
Jae Sung Ko ◽  
Jung Han Song ◽  
Sung Sup Park ◽  
Jeong Kee Seo

2015 ◽  
Vol 36 (3) ◽  
pp. 287-299 ◽  
Author(s):  
Edward Brede

Human mediated introductions of non-native species can pose a major threat to global biodiversity on several accounts i.e. through competition, the introduction of novel pathogens, and genetic pollution. Where hybridization occurs between two closely related species the F1 offspring are usually phenotypically discernible whereas F2 hybrid, backcrossed or admixed individuals become more difficult to separate. At this point the utilization of molecular methods is required in conservation efforts to differentiate and manage populations. This study demonstrated how a possible threat of hybridization from an introduced non-native (T. carnifex) with a protected native newt species (T. cristatus) could be investigated with molecular tools, and examined the current extent of its genetic introgression over an 80 years period. The results confirmed that hybridization had taken place at the site of introduction (and continues to do so), and that historically limited local dispersal of both non-natives and/or hybrids had occurred sometime in the past. However, the data suggests that although dispersal of hybrids into a local satellite site may still be occuring, hybridization with native species appears limited.


2006 ◽  
Vol 29 (4) ◽  
pp. 551-555 ◽  
Author(s):  
Ni-Chung Lee ◽  
Yin-Hsiu Chien ◽  
Keiko Kobayashi ◽  
Takeyori Saheki ◽  
Huey-Ling Chen ◽  
...  

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