The genetic basis of human narcolepsy remains poorly understood. Multiplex families with full-blown narcolepsy-cataplexy are rare, whereas families with both narcolepsy-cataplexy and excessive daytime sleepiness without cataplexy are more common. We performed a genomewide linkage analysis in a large French family with four members affected with narcolepsy-cataplexy and 10 others with isolated recurrent naps or lapses into sleep. Only three regions showed logarithm of odds (LOD) scores greater than 1 in two-point linkage analysis (D6S1960, D11S2359, and D21S228). Genotyping additional markers provided support for linkage to 9 markers on chromosome 21 (maximum two-point LOD score, 3.36 at D21S1245). The multipoint linkage analysis using SimWalk2 provided further evidence for linkage to the same region (maximum parametric LOD score, 4.00 at 21GT26K). A single haplotype was shared by all affected individuals and informative crossovers indicated that the elusive gene that confers susceptibility to narcolepsy is likely to be located between markers D21S267 and ABCG1, in a 5.15 Mb region of 21q.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ana.20208 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Causal Relationship Between Different Sleep Traits and Dental Caries: A Bidirectional Mendelian Randomization Study.
Int J Behav Med
January 2025
Department of Stomatology, Zhejiang Hospital, Hangzhou, China.
Background: Dental caries (DC) is a significant common disease of the oral cavity. Recently, researchers have focused more on the impact of poor sleep habits on the incidence and development of DC, which aroused our interest in the study of the correlation and causal relationship between sleep and dental caries.
Methods: In this study, Linkage disequilibrium score (LDSC) regression method was used to found the genetic correlation between different sleep traits and DC, while bidirectional Mendelian randomization (MR) methods were used to explore the causal relationship.
Propidium Monoazide is Unreliable for Quantitative Live-Dead Molecular Assays.
Anal Chem
January 2025
Department of Agricultural and Biological Engineering, Purdue University, West Lafayette, Indiana 47907, United States.
Propidium monoazide (PMA) is a dye that distinguishes between live and dead cells in molecular assays like the Polymerase Chain Reaction (PCR). It works by cross-linking to the DNA of cells that have compromised membranes or extracellular DNA upon photoactivation, making the DNA inaccessible for amplification. Currently, PMA is used to detect viable pathogens and alleviate systemic bias in the microbiome analysis of samples using 16S rRNA gene sequencing.
View Article and Find Full Text PDFHIV Molecular Transmission Networks Among Students in Guangxi: Unraveling the Dynamics of Student-Driven HIV Epidemic.
Emerg Microbes Infect
January 2025
Guangxi Key Laboratory of AIDS Prevention Control and Translation, Guangxi Zhuang Autonomous Region Center for Disease Control and Prevention, Nanning, Guangxi, China.
In Guangxi, the number of newly diagnosed HIV-1 infections among students is continuously increasing, highlighting the need for a detailed understanding of local transmission dynamics, particularly focusing on key drivers of transmission. We recruited individuals newly diagnosed with HIV-1 in Nanning, Guangxi, and amplified and sequenced the HIV-1 pol gene to construct a molecular network. Bayesian phylogenetic analysis was utilized to identify migration events, and multivariable logistic regression was employed to analyze factors influencing clustering and high linkage.
View Article and Find Full Text PDFElucidating ancestry-specific structures in admixed populations is crucial for comprehending population history and mitigating confounding effects in genome-wide association studies. Existing methods for elucidating the ancestry-specific structures generally rely on frequency-based estimates of genetic relationship matrix (GRM) among admixed individuals after masking segments from ancestry components not being targeted for investigation. However, these approaches disregard linkage information between markers, potentially limiting their resolution in revealing structure within an ancestry component.
View Article and Find Full Text PDFRecent work has demonstrated that the soluble photoconvertable fluorescent protein mEOS can be a reporter for AAA+ (ATPases Associated with diverse cellular Activities) unfoldase activity. Given that many AAA+ proteins process membrane proteins, we sought to adapt mEOS for use with membrane protein substrates. However, direct genetic fusion of mEOS to a membrane protein completely abolished fluorescence, severely limiting the utility of mEOS for studying AAA+ proteins.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!