scholarly journals Successful containment of horizontal enterovirus infection in a neonatal unit in Singapore through diagnosis by polymerase chain reaction (PCR) and direct sequence analysis

2020 ◽  
Vol 13 (10) ◽  
pp. 1556-1561
Author(s):  
Yee Yin Tan ◽  
Bin Huey Quek ◽  
Koh Cheng Thoon ◽  
Matthias Maiwald ◽  
Chee Fu Yung ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Sequence Analysis ◽  
Neonatal Unit ◽  
Direct Sequence ◽  
Enterovirus Infection ◽  
Chain Reaction ◽  
Direct Sequence Analysis ◽  
Polymerase Chain

scholarly journals Detection of gene mutations by reverse transcription-polymerase chain reaction and direct sequence method in X-linked Alport syndrome

1998 ◽  
Vol 11 (1) ◽  
pp. 69-73
Author(s):  
Yuji Inoue ◽  
Kukiko Noguchi ◽  
Koichi Nakanishi ◽  
Kazumoto Iijima ◽  
Hajime Nakamura ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Reverse Transcription ◽  
Alport Syndrome ◽  
Gene Mutations ◽  
Direct Sequence ◽  
Chain Reaction ◽  
Sequence Method ◽  
Polymerase Chain

scholarly journals Interaction of rare illegitimate recombination event and a poly A addition site mutation resulting in a severe form of alpha thalassemia

Blood ◽  
1994 ◽  
Vol 83 (11) ◽  
pp. 3356-3362 ◽  
Author(s):  
P Fortina ◽  
T Parrella ◽  
M Sartore ◽  
E Gottardi ◽  
V Gabutti ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Sequence Analysis ◽  
Recombination Event ◽  
Globin Gene ◽  
Severe Form ◽  
Illegitimate Recombination ◽  
Chain Reaction ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Polymerase Chain

Abstract The clinical diversity of thalassemia depends on interaction of diverse genetic defects. We have characterized a severe form of alpha thalassemia caused by coinheritance of a rare alpha-globin gene deletion and a nondeletional defect in a southern Italian family. The proband, a 7-year-old girl, exhibited an abnormal hemoglobin electrophoresis pattern with hemoglobin H and hemoglobin Barts, indicating inheritance of H and hemoglobin Barts, indicating inheritance of a severe form of alpha thalassemia. Southern blot analysis of DNA showed normal as well as aberrant alpha-globin gene fragments indicating heterozygosity for a deletional form of alpha thalassemia in the proband and her mother. The coinheritance of a nondeletional form of alpha thalassemia (alpha alpha T) was suspected because of the severity of the proband's phenotype and the presence of normal alpha-globin gene fragments in the father. Selective polymerase chain reaction of the paternal alpha 1- and alpha 2-globin genes in the proband followed by DNA sequence analysis showed an AATAAA to AATGAA mutation in the polyadenylation signal sequence of the alpha 2-globin gene. Genomic DNA mapping and sequence analysis of a unique polymerase chain reaction product generated across the deletion breakpoint of the maternal allele showed a 5,201-bp deletion extending from 870 nucleotides 5′ of the alpha 2-globin gene to nucleotide +519 in the alpha 1-globin gene. This deletion is similar to that previously suggested by blotting studies in a Greek family (Pressley et al, Nucleic Acids Res 8:4889, 1980) and removes the entire alpha 2-globin gene and a portion of the 5′ end of the alpha 1-globin gene. Sequence characterization of the resultant aberrant truncated alpha 1-globin gene from the proband showed a 27 nucleotide duplication corresponding to the 3′ end of the alpha-globin gene IVS-2 region separated by the insertion of a tetranucleotide (GGTT), suggesting that this deletion is caused by an illegitimate recombination event.

scholarly journals Direct sequence analysis of the 14q+ and 18q- chromosome junctions in follicular lymphoma

Blood ◽  
1990 ◽  
Vol 76 (1) ◽  
pp. 131-135 ◽  
Author(s):  
F Cotter ◽  
C Price ◽  
E Zucca ◽  
BD Young
Keyword(s):  
Sequence Analysis ◽  
Direct Sequencing ◽  
Underlying Mechanism ◽  
Chromosome Translocation ◽  
Direct Sequence ◽  
Recombination Signal Sequences ◽  
Direct Sequence Analysis ◽  
Consistent Feature ◽  
Polymerase Chain ◽  
Follicular Lymphomas

Abstract Although the t(14;18) chromosome translocation has been demonstrated to be a highly consistent feature of follicular lymphomas, the underlying mechanism generating this fusion has remained uncertain. To examine this question further, a polymerase chain reaction strategy has been devised to permit the amplification and direct sequencing of the resultant 14q+ and 18q- reciprocal junctions. Direct sequence analysis of amplified 14q+ junctions established that 7 of 11 tumors contained a bcl-2 (mbr) sequence fused to an immunoglobulin JH region (five were J6 and two were J5). One of these junctions had an unusual configuration with the bcl-2 and JH sequences separated by a recognizable DH region. This finding suggests that at least some of the junctional sequences, previously thought of as N insertions, may be fragments of unrecognized DH regions. It was also possible to amplify and sequence 18q- junctions using a primer based on the DH recombination signal sequences. Several 18q- junctions were shown to consist of DH/bcl-2 (either mbr or mcr) fusions. In two tumors the 14q+ and 18q- junctions were fully sequenced, and it was demonstrated that the bcl-2 sequence was conserved during mbr and mcr translocations. This contrasts with previous analyses that demonstrated either loss or duplication of several bases at the breakpoints in the bcl-2 gene.

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