Identification of deletions (loss) spanning only a single gene
Identification and characterization of Dlc1 isoforms in the mouse and study of the biological function of a single gene trapped isoform
... A gene trapped embryonic cell line, with an insertion between Exon 1 and 2 of the ...the gene trapped allele were phenotypically normal, but homozygous mutant embryos did not survive beyond ...
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Multiplex Ligation-dependent Probe Amplification Identification of Deletions and Duplications of the Duchenne Muscular Dystrophy Gene in Taiwanese Subjects
... Identified deletions and duplications were taken as reliable when they involved two or more adjacent exons or were confirmed by mPCR analy- ...Apparent single exon deletions or duplica- tions were ...
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Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions
... POLG gene as compared to that in control ...mtDNA deletions is not only of the axonal type but also might addition- ally be caused by nerve cell ...
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Identification of gross deletions in FBN1 gene by MLPA
... the only defect in some affected ...and identification of a causal FBN1 mutation was sufficient to establish a diagnosis of MFS ...not only in the diagnosed/suspected MFS patients but also in those ...
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Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population
... which was significantly associated with expression level change of the TMEM120B gene (Additional file 3: Table S2). Two gRNAs were designed to generate the deletion with sequences ATCCCAAAGCTGGTAGCG GATGG and ...
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Gene Deletions by Ends-In Targeting in Drosophila melanogaster
... a single w c This allele was used for ...ho- single-strand annealing, causing recombination between mozygous flies using the primers Sir2-C1 and Sir2-C2 flanking homologous regions (Rong and Golic 2000; ...
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A Bacterial Artificial Chromosome Contig Spanning the Major Domestication Locus Q in Wheat and Identification of a Candidate Gene
... if the average physical-to-genetic distance ratio within demonstrated that subgenome chromosome walking us- the deleted region is ⵑ330 kb/cM, and the distal break- ing a T. monococcum BAC library can be used to success- ...
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Applying Gene Expression, Proteomics and Single-Nucleotide Polymorphism Analysis for Complex Trait Gene Identification
... have only recently become feasible; however, they are technically and financially restrictive relative to mRNA ...microarray gene expression since it will be possible to directly interrogate the presence of ...
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Prevalence of pfhrp2 and pfhrp3 gene deletions in Puerto Lempira, Honduras
... Acknowledgements We thank members of the study team in Honduras who contributed to the collection of samples and study participants for their permission to use these samples. We acknowledge the support of the Amazon ...
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Identification and validation of single sample breast cancer radiosensitivity gene expression predictors
... The reasons are mainly due to lack of follow-up studies and validation, the inability to handle samples of lower RNA quality, which is typical under clinical conditions with FFPE samples, and the models being cohort ...
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Hepatitis A viruses with deletions in the 2A gene are infectious in cultured cells and marmosets.
... 2A gene of hepatitis A virus (HAV) bears no obvious similarity to the corresponding genes of other picornaviruses and has no known ...2A gene product, we constructed several HAV cDNAs containing ...
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TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions
... extends only a few bases into one of two adjacent exons, then it often happens that the read will align equally well, but incorrectly, with the sequence of the intervening ...extending only four bases into ...
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TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions
... extends only a few bases into one of two adjacent exons, then it often happens that the read will align equally well, but incorrectly, with the sequence of the intervening ...extending only four bases into ...
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Identification of single nucleotide polymorphisms in GDF9 gene associated with litter size in Garut sheep
... study, only SNP g.333G>A of the GDF9 gene can be used as a marker- assisted selection in Garut ...GDF9 gene is an important candidate gene for the primary ovarian ...
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Identification of a Haarlem Genotype Specific Single Nucleotide Polymorphism in the mgtC Virulence Gene of Mycobacterium tuberculosis
... differ only at the 3 ⬘ -end nucleotide that is complementary to the wild-type sequence (SNP-182G-R) or the mu- tant sequence ...occurs only if the 3 ⬘ end of the SNP-specific primer matches the sequence of ...
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InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms.
... Hemizygosity can also be attributed to small deletions. For example, bi-allelic mutations in ABCC6, a 16.5 kilo- base (kb) deletion of exons 23–29 compounded with more common mutations R1141X, R1164X and R1138W, ...
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Gamma heavy chain disease in man Genomic sequence reveals two noncontiguous deletions in a single gene
... J Clin Invest. 1988;82(4):1244-1252. https://doi.org/10.1172/JCI113722. A genomic clone was isolated from a human lymphoid cell line which synthesized an NH2- terminally deleted gamma 3 heavy chain disease protein. ...
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GENE CONVERSION OF DELETIONS IN THE HIS4 REGION OF YEAST
... Analysis of tetrads from crosses in which strains carrying these deletions were mated to wild type shows that even large deletions undergo gene conversion.. The deletion can be con[r] ...
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Molecular basis of argininemia Identification of two discrete frame shift deletions in the liver type arginase gene
... There was a four-base deletion at protein-coding region 262-265 or 263-266 in exon 3 that would lead to a reading-frame shift after amino acid residue 87 and make a new stop codon at res[r] ...
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Related individuals with different androgen receptor gene deletions
... have deletions of different exons of the X-linked androgen receptor (AR) ...AR gene and their affected (XY) aunt has a normal exon E, but a deletion of exons F and G of the same ...
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