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Mutations Detectable (mutation + detectable)

Distribution by Scientific Domains
Life Sciences60%
Medical Sciences40%

Selected Abstracts

Microdeletions involving the SCN1A gene may be common in SCN1A -mutation-negative SMEI patients,

HUMAN MUTATION, Issue 9 2006
Arvid Suls
Abstract Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome is a rare epilepsy syndrome. In 30 to 70% of SMEI patients, truncating and missense mutations in the neuronal voltage-gated sodium-channel ,-subunit gene (SCN1A) have been identified. The majority of patients have truncating mutations that are predicted to be loss-of-function alleles. Because mutation detection studies use PCR-based sequencing or conformation sensitive gel electrophoresis (CSGE), microdeletions, which are also predicted to be loss-of-function alleles, can easily escape detection. We selected 11 SMEI patients with or without additional features who had no SCN1A mutation detectable with sequencing analysis. In addition, none of the patients was heterozygous for any of the SNPs in SCN1A, indicating that they were either homozygous for all SNPs or hemizygous due to a microdeletion of the gene. We subsequently analyzed these patients for the presence of microdeletions in SCN1A using a quantitative PCR method named multiplex amplicon quantification (MAQ), and observed three patients missing one copy of the SCN1A gene. All three microdeletions were confirmed by fluorescence in situ hybridization (FISH). These findings demonstrate that a substantial percentage of SCN1A -mutation-negative SMEI patients with or without additional features carry a chromosomal microdeletion comprising the SCN1A gene and that haploinsufficiency of the SCN1A gene is a cause of SMEI. Hum Mutat 27(9), 914,920, 2006. © 2006 Wiley-Liss, Inc. [source]

Is the JAK2V617F mutation detectable in healthy volunteers?,

AMERICAN JOURNAL OF HEMATOLOGY, Issue 4 2010
Christophe Martinaud
No abstract is available for this article. [source]

In vivo HIV-1 compartmentalisation: Drug resistance-associated mutation distribution

JOURNAL OF MEDICAL VIROLOGY, Issue 1 2002
Helen L. Devereux
Abstract Four patients who had received highly active antiretroviral therapy (HAART), and had postmortem samples stored, were tested for genotypic resistance using consensus sequencing. One patient was further investigated using single-copy sequencing. Patients 1, 3, and 4 showed a relatively uniform distribution of resistance-associated mutations, with only a small number (one to three) of protease mutations detectable. Patient 2 had a number of detectable mutations (four to eight, depending on the tissue) with similar distributions between the tissues. The exception was viruses detected in the esophagus, which were more diverse. Plasma was a moderately representative tissue of the viruses circulating in these individuals. However, some mutations detectable in some tissues were not seen in plasma (e.g., M46I and D30N in the protease). Single-copy sequencing revealed a wide distribution of quasi-species and a number of defective viruses in the proviral DNA and RNA. This study supports the concept that a wide variety of quasi-species circulate in each individual and that there may be viruses evolving independently in different body compartments. J. Med. Virol. 66:8,12, 2002. © 2002 Wiley-Liss, Inc. [source]

Detection of germline deletions using real-time quantitative polymerase chain reaction in Japanese patients with von Hippel,Lindau disease

CANCER SCIENCE, Issue 5 2006
Keiko Hattori
Germline mutations of the VHL gene are responsible for VHL. Approximately 70% of VHL families display small intragenic mutations detectable by sequencing, whereas partial- or whole-gene deletions have been described in the majority of the remaining families. For such large deletions, complex genetic techniques other than sequencing might have to be used. In this study, we describe an RQ-PCR assay with TaqMan fluorescent probes to detect germline VHL deletions. The RQ-PCR primer/probe sets were designed for the three VHL coding exons as well as for the 5, promoter and 3, untranslated regions. The RQ-PCR assay for 30 normal and 10 known VHL deletion control samples demonstrated high sensitivity and specificity. We then screened 29 individuals from 19 classical VHL families (16 type 1, 2 type 2A, and one type 2B) and one PHEO family, as well as four solitary suspected cases, none displaying any sequence changes, for VHL deletions by the RQ-PCR assay. We detected germline deletions in 17 (89%) classical families including 15 type 1, one type 2A, and one type 2B. We also identified two mutation carriers and two non-carriers in our family cohort. The one PHEO family and four solitary cases did not display any deletion patterns. These findings indicated that the TaqMan-based RQ-PCR assay is a simple and potent technique for the rapid, sensitive, and specific investigation of VHL genetic diagnoses that could be used profitably before more complex large-deletion detection techniques. (Cancer Sci 2006; 97: 400 ,405) [source]