Objective: To investigate the polymorphism of 3 short tandem repeat (STR) loci D21S1442, D21S1413 and D21S1809 on human chromosome 21 in Shaanxi Han nationality in China.
Methods: Blood samples anti-coagulated with EDTA were collected from 160 unrelated Chinese Han individuals in Shaanxi Province. The genomic DNA was extracted with Chelex-100, amplified by PCR and analyzed using PAGE with silver staining.
Results: Nine, eight and seven alleles were detected at the loci of D21S1442, D21S1413 and D21S1809, respectively. The genotype distributions of all the 3 loci were in accordance with Hardy-Weinberg equilibrium. The heterozygosities of the 3 loci were 0.750, 0.742 and 0.694, respectively. No linkage disequilibrium was found between the loci.
Conclusion: The 3 loci on chromosome 21 have high heterozygosity and polymorphic information content in Shaanxi Han population, suggesting their value as potentially useful genetic markers.
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BMC Anesthesiol
January 2025
Department of Anesthesiology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine), 54 Youdian Road, Hangzhou, 310006, China.
Background: Ciprofol, a novel intravenous anesthetic, which has primarily been used for the induction and maintenance of general anesthesia in adults, is characterized by rapid onset, short duration of action, and quick and smooth recovery. However, the pharmacokinetic characteristics of continuous infusions and the correlation between the plasma concentration and the bispectral index (BIS) in elderly patients are still unknown.
Method: In this randomized, controlled study, thirty elderly patients (62-78 years old) undergoing elective gastrointestinal tumor resection were treated with propofol (N = 15) or ciprofol (N = 15) as sedatives during anesthesia.
Introduction: Adverse exposures in utero might cause adaptations of cardiovascular and metabolic organ development, predisposing individuals to an adverse cardio-metabolic risk profile from childhood onwards. We hypothesized that adaptations in metabolic pathways underlie these associations and examined associations of metabolite profiles at birth with childhood cardio-metabolic risk factors.
Methods: The study included 763 mother-child pairs participating in an ongoing population-based prospective cohort study with an overall low disease risk.
Tandem repeats are a highly polymorphic class of genomic variation that play causal roles in rare diseases but are notoriously difficult to sequence using short-read techniques . Most previous studies profiling tandem repeats genome-wide have reduced the description of each locus to the singular value of the length of the entire repetitive locus . Here we introduce a comprehensive database of 3.
View Article and Find Full Text PDFNon-myeloablative hematopoietic cell transplantation (HCT) is a curative option for individuals with sickle cell disease (SCD). Our traditional goal with this approach has been to achieve a state of mixed donor/recipient chimerism. Recently, we reported an increased risk of hematologic malignancies (HMs) in adults with SCD following graft failure or mixed chimerism.
View Article and Find Full Text PDFAm J Hum Genet
January 2025
UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA. Electronic address:
More than 50% of families with suspected rare monogenic diseases remain unsolved after whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing variants inaccessible to SRS, facilitating long-range mapping and phasing and providing haplotype-resolved methylation profiling. To evaluate LRS's additional diagnostic yield, we sequenced a rare-disease cohort of 98 samples from 41 families, using nanopore sequencing, achieving per sample ∼36× average coverage and 32-kb read N50 from a single flow cell.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!