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1.
Front Microbiol ; 15: 1383779, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38741747

RESUMEN

Introduction: The effects of fructo-oligosaccharides (FOS) on atopic dermatitis (AD) have not been determined. Methods: In a randomized, double-blind, placebo-controlled trial, children with AD aged 24 months to 17 years received either advanced FOS containing 4.25 g of 1-kestose or a placebo (maltose) for 12 weeks. Results: The SCORAD and itching scores were reduced in patients treated with both FOS (all p < 0.01) and maltose (p < 0.05 and p < 0.01). Sleep disturbance was improved only in the FOS group (p < 0.01). The FOS group revealed a decreased proportion of linoleic acid (18:2) esterified omega-hydroxy-ceramides (EOS-CERs) with amide-linked shorter chain fatty acids (C28 and C30, all p < 0.05), along with an increased proportion of EOS-CERs with longer chain fatty acids (C32, p < 0.01). Discussion: FOS may be beneficial in alleviating itching and sleep disturbance, as well as improving skin barrier function in children with AD.

2.
PLoS One ; 19(5): e0300678, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38820506

RESUMEN

While several studies have proposed a connection between the gut microbiome and the pathogenesis of Graves's disease (GD), there has been a lack of reports on alteration in microbiome following using anti-thyroid drug treatment (ATD) to treat GD. Stool samples were collected from newly diagnosed GD patients provided at baseline and after 6 months of ATD treatment. The analysis focused on investigating the association between the changes in the gut microbiome and parameter including thyroid function, thyroid-related antibodies, and the symptom used to assess hyperthyroidism before and after treatment. A healthy control (HC) group consisting of data from 230 healthy subjects (110 males and 120 females) sourced from the open EMBL Nucleotide Sequence Database was included. Twenty-nine GD patients (14 males and 15 females) were enrolled. The analysis revealed a significant reduction of alpha diversity in GD patients. However, after ATD treatment, alpha diversity exhibited a significant increase, restored to levels comparable to the HC levels. Additionally, GD patients displayed lower levels of Firmicutes and higher levels of Bacteroidota. Following treatment, there was an increased in Firmicutes and a decrease in Bacteroidota, resembling levels found in the HC levels. The symptoms of hyperthyroidism were negatively associated with Firmicutes and positively associated with Bacteroidota. GD had significantly lower levels of Roseburia, Lachnospiraceaea, Sutterella, Escherichia-shigella, Parasuterella, Akkermansia, and Phascolarctobacterium compared to HC (all p < 0.05). Post-treatment, Subdoligranulum increased (p = 0.010), while Veillonella and Christensenellaceaea R-7 group decreased (p = 0.023, p = 0.029, respectively). Anaerostipes showed a significant association with both higher smoking pack years and TSHR-Ab levels, with greater abundantce observed in smokers among GD (p = 0.16). Although reduced ratio of Firmicutes/Bacteroidetes was evident in GD, this ratio recovered after treatment. This study postulates the involvement of the gut microbiome in the pathogenesis of GD, suggesting potential restoration after treatment.


Asunto(s)
Antitiroideos , Microbioma Gastrointestinal , Enfermedad de Graves , Humanos , Enfermedad de Graves/tratamiento farmacológico , Enfermedad de Graves/microbiología , Microbioma Gastrointestinal/efectos de los fármacos , Masculino , Femenino , Adulto , Antitiroideos/uso terapéutico , Persona de Mediana Edad , Heces/microbiología , Estudios de Casos y Controles
3.
Allergy Asthma Immunol Res ; 16(2): 154-167, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38528383

RESUMEN

PURPOSE: We aimed to investigate the mediating factors between maternal anxiety and the development of food allergy (FA) in children until 2 years from birth. METHODS: In this longitudinal cohort of 122 mother-child dyads from pregnancy to 24 months of age, we regularly surveyed maternal psychological states, infant feeding data, and allergic symptoms and collected stool samples at 6 months of age for microbiome analysis. Considering the temporal order of data collection, we investigated serial mediating effects and indirect effects among maternal anxiety, dietary diversity (DD), gut microbial diversity, and FA using structural equation modeling. RESULTS: Among the 122 infants, 15 (12.3%) were diagnosed with FA. Increased maternal anxiety between 3 and 6 months after delivery was associated with a lower DD score. Infants with low DD at 4 months showed low gut microbial richness, which was associated with FA development. When the infants were grouped into 4 subtypes, using consensus clustering of 13 gut bacteria significantly associated with maternal anxiety and DD, Prevotella, Eubacterium, Clostridiales and Lachnospiraceae were more abundant in the group with lower FA occurrence. CONCLUSIONS: Postpartum maternal anxiety, mediated by reduced DD and gut microbial diversity, may be a risk factor for the development of FA in infants during the first 2 years of life.

4.
Food Funct ; 15(2): 647-662, 2024 Jan 22.
Artículo en Inglés | MEDLINE | ID: mdl-38099933

RESUMEN

This study evaluated the effects of formulations with Lacticaseibacillus paracasei BEPC22 and Lactiplantibacillus plantarum BELP53 on adiposity, the alteration of microbiota, and the metabolome in high-fat diet-fed mice. The strains were selected based on their fat and glucose absorption inhibitory activities and potential metabolic interactions. The optimal ratio of the two strains in the probiotic formulation was determined based on their adipocyte differentiation inhibitory activities. Treatment of formulations with BEPC22 and BELP53 for 10 weeks decreased body weight gain at 6 weeks; it also decreased the food efficiency ratio, white adipose tissue volume, and adipocyte size. Moreover, it decreased the expression of the lipogenic gene Ppar-γ in the liver, while significantly increasing the expression of the fat oxidation gene Ppar-α in the white adipose tissue. Notably, treatment with a combination of the two strains significantly reduced the plasma levels of the obesity hormone leptin and altered the microbiota and metabolome. The omics data also indicated the alteration of anti-obesity microbes and metabolites such as Akkermansia and indolelactic acid, respectively. These findings suggest that treatment with a combination of BEPC22 and BELP53 exerts synergistic beneficial effects against obesity.


Asunto(s)
Microbioma Gastrointestinal , Lacticaseibacillus paracasei , Animales , Ratones , Dieta Alta en Grasa/efectos adversos , Receptores Activados del Proliferador del Peroxisoma/metabolismo , Obesidad/genética , Metaboloma , Ratones Endogámicos C57BL
5.
Allergy Asthma Immunol Res ; 15(2): 186-200, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37021505

RESUMEN

PURPOSE: We aimed to investigate epidermal lipid profiles and their association with skin microbiome compositions in children with atopic dermatitis (AD). METHODS: Specimens were obtained by skin tape stripping from 27 children with AD and 18 healthy subjects matched for age and sex. Proteins and lipids of stratum corneum samples from nonlesional and lesional skin of AD patients and normal subjects were quantified by liquid chromatography tandem mass spectrometry. Skin microbiome profiles were analyzed using bacterial 16S rRNA sequencing. RESULTS: Ceramides with nonhydroxy fatty acids (FAs) and C18 sphingosine as their sphingoid base (C18-NS-CERs) N-acylated with C16, C18 and C22 FAs, sphingomyelin (SM) N-acylated with C18 FAs, and lysophosphatidylcholine (LPC) with C16 FAs were increased in AD lesional skin compared to those in AD nonlesional skin and that of control subjects (all P < 0.01). SMs N-acylated with C16 FAs were increased in AD lesional skin compared to control subjects (P < 0.05). The ratio of NS-CERs with long-chain fatty acids (LCFAs) to short-chain fatty acids (SCFAs) (C24-32:C14-22), the ratio of LPC with LCFAs to SCFAs (C24-30:C16-22) as well as the ratio of total esterified omega-hydroxy ceramides to total NS-CERs were negatively correlated with transepidermal water loss (rho coefficients = -0.738, -0.528, and -0.489, respectively; all P < 0.001). The proportions of Firmicutes and Staphylococcus were positively correlated to SCFAs including NS ceramides (C14-22), SMs (C17-18), and LPCs (C16), while the proportions of Actinobacteria, Proteobacteria, Bacteroidetes, Corynebacterium, Enhydrobacteria, and Micrococcus were negatively correlated to these SCFAs. CONCLUSIONS: Our results suggest that pediatric AD skin shows aberrant lipid profiles, and these alterations are associated with skin microbial dysbiosis and cutaneous barrier dysfunction.

6.
Biomedicines ; 11(3)2023 Mar 03.
Artículo en Inglés | MEDLINE | ID: mdl-36979756

RESUMEN

Background: Ursodeoxycholic acid (UDCA) and chenodeoxycholic acid (CDCA) are used to treat patients with asymptomatic or mildly symptomatic gallstone disease. This study was conducted to evaluate the efficacy of gallbladder (GB) stone dissolution by UDCA/CDCA and the impact of treatment on gut microbial profiles. Methods: Fifteen treatment-naive patients with GB stones were initially included, but two dropped out during the treatment period. UDCA/CDCA was administered for 6 months. Abdominal ultrasonography was performed to evaluate response to treatment. In addition, fecal samples were collected before and after treatment for gut microbiome profiling. Then, 16S ribosomal RNA gene sequencing was carried out on fecal samples obtained before and after treatment, and results were compared with those of forty healthy controls. Results: Eight (62%) of the thirteen evaluable patients treated with UDCA/CDCA responded to treatment (four achieved complete GB stone resolution and four partial dissolution). Taxonomic compositions of fecal samples at the phylum level showed a significantly lower relative abundance of the Proteobacteria phylum in the pre-UDCA/CDCA group than in the healthy control group (p = 0.024). At the genus level, the relative abundances of five bacteria (Faecalibacterium, Roseburia, Lachnospira, Streptococcus, and Alistipes) differed in the control and pre-UDCA/CDCA group. Interestingly, the abundance of Roseburia was restored after 6 months of UDCA/CDCA treatment. Conclusion: Gut microbial dysbiosis was observed in GB stone patients and partially reversed by UDCA/CDCA treatment, which also effectively dissolved GB stones.

7.
Data Brief ; 48: 109049, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36969976

RESUMEN

Rotating machines are often operated under various operating conditions. However, the characteristics of the data varies with their operating conditions. This article presents the time-series dataset, including vibration, acoustic, temperature, and driving current data of rotating machines under varying operating conditions. The dataset was acquired using four ceramic shear ICP based accelerometers, one microphone, two thermocouples, and three current transformer (CT) based on the international organization for standardization (ISO) standard. The conditions of the rotating machine consisted of normal, bearing faults (inner and outer races), shaft misalignment, and rotor unbalance with three different torque load conditions (0 Nm, 2 Nm, and 4 Nm). This article also reports the vibration and driving current dataset of a rolling element bearing under varying speed conditions (680 RPM to 2460 RPM). The established dataset can be used to verify newly developed state-of-the-art methods for fault diagnosis of rotating machines. Mendeley Data. DOI:10.17632/ztmf3m7h5x.6, DOI:10.17632/vxkj334rzv.7, DOI:10.17632/x3vhp8t6hg.7, DOI:10.17632/j8d8pfkvj2.7.

8.
Allergy ; 78(5): 1292-1306, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36609802

RESUMEN

BACKGROUND: Staphylococcus (S) aureus colonization is known to cause skin barrier disruption in atopic dermatitis (AD) patients. However, it has not been studied how S. aureus induces aberrant epidermal lipid composition and skin barrier dysfunction. METHODS: Skin tape strips (STS) and swabs were obtained from 24 children with AD (6.0 ± 4.4 years) and 16 healthy children (7.0 ± 4.5 years). Lipidomic analysis of STS samples was performed by mass spectrometry. Skin levels of methicillin-sensitive and methicillin-resistant S. aureus (MSSA and MRSA) were evaluated. The effects of MSSA and MRSA were evaluated in primary human keratinocytes (HEKs) and organotypic skin cultures. RESULTS: AD and organotypic skin colonized with MRSA significantly increased the proportion of lipid species with nonhydroxy fatty acid sphingosine ceramide with palmitic acid ([N-16:0 NS-CER], sphingomyelins [16:0-18:0 SM]), and lysophosphatidylcholines [16:0-18:0 LPC], but significantly reduced the proportion of corresponding very long-chain fatty acids (VLCFAs) species (C22-28) compared to the skin without S. aureus colonization. Significantly increased transepidermal water loss (TEWL) was found in MRSA-colonized AD skin. S. aureus indirectly through interleukin (IL)-1ß, tumor necrosis factor (TNF)-α, IL-6, and IL-33 inhibited expression of fatty acid elongase enzymes (ELOVL3 and ELOVL4) in HEKs. ELOVL inhibition was more pronounced by MRSA and resulted in TEWL increase in organotypic skin. CONCLUSION: Aberrant skin lipid profiles and barrier dysfunction are associated with S. aureus colonization in AD patients. These effects are attributed to the inhibition of ELOVLs by S. aureus-induced IL-1ß, TNF-α, IL-6, and IL-33 seen in keratinocyte models and are more prominent in MRSA than MSSA.


Asunto(s)
Dermatitis Atópica , Staphylococcus aureus Resistente a Meticilina , Infecciones Estafilocócicas , Niño , Humanos , Staphylococcus aureus , Interleucina-33/farmacología , Interleucina-6 , Dermatitis Atópica/patología , Lípidos
9.
Life (Basel) ; 12(10)2022 Oct 03.
Artículo en Inglés | MEDLINE | ID: mdl-36294975

RESUMEN

BACKGROUND: Common bile duct (CBD) stone recurrence is a common late adverse event after CBD stone treatment. In this preliminary study, we compared the bile fluid and duodenum microbial profiles of patients with or without recurrent CBD stones to identify risk factors associated with recurrence. METHODS: Bile fluid samples of 47 consecutive patients who underwent ERCP for biliary diseases were subjected to microbiome analysis. Nineteen patients were stone-recurrent (SR), and 28 patients were non-stone-recurrent (NSR). Paired samples (duodenum biopsy tissue and bile fluid samples) from five SR patients were used to compare microbiome compositions in the biliary system and duodenum. In addition, we compared the microbiome compositions of these duodenal tissue samples with those 12 controls (gastric ulcer patients without recurrent CBD stones). RESULTS: Enterococcaceae_unclassified and enterococcus were more abundant in bile fluid in the SR group than in the NSR group (p = 0.002 and p = 0.003, respectively). A comparison of the microbiome compositions of duodenum tissue and bile fluid samples of the five recurrent CBD stone patients revealed proteobacteria compositions were almost identical from the phylum to genus level. In these five patients, alpha and beta diversities were no different in bile fluid and duodenal tissues. Furthermore, a comparison of the microbiome compositions of duodenal mucosa in patients with recurrent CBD stone patients (n = 5) and controls (n = 12) revealed significant differences between microbiome compositions. CONCLUSIONS: Enterococcus seems to contribute to CBD stone development. Furthermore, our results indicate that retrograde migration of the duodenal microbiome may contribute to bile microbiome alterations. We recommend that more research be conducted to confirm this hypothesis.

10.
Exp Gerontol ; 167: 111927, 2022 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-35981616

RESUMEN

Sarcopenia is a prognostic indicator of negative consequences in older adults, including physical disability, frailty, and mortality. Few studies have investigated the associations between sarcopenia and the gut microbiota. We sought such associations in community-dwelling older adults aged ≥60 years. Sarcopenia was defined as low muscle mass, plus reduced physical performance, and/or low skeletal muscle strength. 16S rRNA next-generation sequencing was used to identify the components of the gut microbiota in fecal samples from 27 older adults with sarcopenia and 33 without sarcopenia. Relationships between sarcopenia and the diversity and composition of the gut microbiota were analyzed. Diversities at the species level were detected between the sarcopenia and control groups (P = 0.049). The abundance of Prevotella and Prevotella copri was significantly lower (P = 0.021 and P = 0.018 respectively) and that of Parabacteroides sp. higher in the sarcopenia than the control group (P = 0.010). Linear discriminant analysis of effect size revealed differences in the microbiota composition between the two groups. Sarcopenia was related with the presence of Anaerotruncus and Phascolarctobacterium sp. and the absence of Prevotella sp. and Prevotella copri. Further research is warranted to clarify whether changes in the gut microbiota cause sarcopenia onset or development.


Asunto(s)
Microbioma Gastrointestinal , Sarcopenia , Anciano , Microbioma Gastrointestinal/fisiología , Humanos , Vida Independiente , Prevotella , ARN Ribosómico 16S/genética
11.
Immune Netw ; 22(2): e17, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35573149

RESUMEN

We aimed to investigate associations of dietary diversity (DD) with gut microbial diversity and the development of hen's egg allergy (HEA) in infants. We enrolled 68 infants in a high-risk group and 32 infants in a control group based on a family history of allergic diseases. All infants were followed from birth until 12 months of age. We collected infant feeding data, and DD was defined using 3 measures: the World Health Organization definition of minimum DD, food group diversity, and food allergen diversity. Gut microbiome profiles and expression of cytokines were evaluated by bacterial 16S rRNA sequencing and real-time reverse transcriptase-polymerase chain reaction. High DD scores at 3 and 4 months were associated with a lower risk of developing HEA in the high-risk group, but not in the control group. In the high-risk group, high DD scores at 3, 4, and 5 months of age were associated with an increase in Chao1 index at 6 months. We found that the gene expression of IL-4, IL-5, IL-6, and IL-8 were higher among infants who had lower DD scores compared to those who had higher DD scores in high-risk infants. Additionally, high-risk infants with a higher FAD score at 5 months of age showed a reduced gene expression of IL-13. Increasing DD within 6 months of life may increase gut microbial diversity, and thus reduce the development of HEA in infants with a family history of allergic diseases.

12.
Antibiotics (Basel) ; 11(4)2022 Mar 31.
Artículo en Inglés | MEDLINE | ID: mdl-35453221

RESUMEN

Long-term antibiotic use can have consequences on systemic diseases, such as obesity, allergy, and depression, implicating the causal role of gut microbiome imbalance. However, the evaluation of the effect of antibiotics in early infancy on alterations to the gut microbiome remains poorly understood. This study aimed to evaluate the gut microbiome state in infancy following systemic antibiotic treatment. Twenty infants under 3 months of age who had received antibiotics for at least 3 days were enrolled, and their fecal samples were collected 4 weeks after antibiotic administration finished. Thirty-four age-matched healthy controls without prior exposure to antibiotics were also assessed. The relative bacterial abundance in feces was obtained via sequencing of 16 S rRNA genes, and alpha and beta diversities were evaluated. At the genus level, the relative abundance of Escherichia/Shigella and Bifidobacterium increased (p = 0.03 and p = 0.017, respectively) but that of Bacteroides decreased (p = 0.02) in the antibiotic treatment group. The microbiome of the antibiotic treatment group exhibited an alpha diversity lower than that of the control group. Thus, systemic antibiotic administration in early infancy affects the gut microbiome composition even after a month has passed; long-term studies are needed to further evaluate this.

13.
J Korean Med Sci ; 36(15): e94, 2021 Apr 19.
Artículo en Inglés | MEDLINE | ID: mdl-33876584

RESUMEN

BACKGROUND: Common bile duct (CBD) stone is one of the most prevalent gastroenterological diseases, but the role played by biliary microbiota in the pathogenesis of CBD stones remains obscure. The aim of this study was to investigate the characteristics of the biliary tract core microbiome and its potential association with the formation of pigment stones. METHODS: Twenty-eight patients with biliary obstruction of various causes were enrolled. Thirteen had new-onset pigment CBD stone. Of the remaining 15, four had benign biliary stricture, four had gallbladder cancer, three had pancreatic cancer, 3 had distal CBD cancer, and one had hepatocellular carcinoma. Endoscopic retrograde cholangiopancreatography was used to collect bile samples for DNA extraction, 16S ribosomal RNA gene sequencing, and bile microbiota composition analysis. RESULTS: Proteobacteria (61.7%), Firmicutes (25.1%), Bacteroidetes (5%), Fusobacteria (4.6%), and Actinobacteria (2.6%) were the most dominant phyla in the bile of the 28 study subjects. A comparison between new-onset choledocholithiasis and other causes of biliary obstruction (controls) showed Enterococcus was found to be significantly abundant in the CBD stone group at the genus level (linear discriminant analysis score = 4.38; P = 0.03). However, no other significant compositional difference was observed. CONCLUSION: This study demonstrates an abundance of microbiota in bile juice and presents a biliary microbiome composition similar to that of duodenum. The study also shows Enterococcus was significantly abundant in the bile juice of patients with a brown pigment stone than in controls, which suggests Enterococcus may play an important role in the development of pigment stones.


Asunto(s)
Conducto Colédoco/microbiología , Cálculos Biliares/diagnóstico , Microbiota , Adulto , Anciano , Anciano de 80 o más Años , Colangiopancreatografia Retrógrada Endoscópica , Conducto Colédoco/patología , Análisis Discriminante , Enterococcus/genética , Enterococcus/aislamiento & purificación , Femenino , Firmicutes/genética , Firmicutes/aislamiento & purificación , Cálculos Biliares/patología , Humanos , Masculino , Persona de Mediana Edad , Proteobacteria/genética , Proteobacteria/aislamiento & purificación , ARN Ribosómico 16S/análisis , ARN Ribosómico 16S/genética , ARN Ribosómico 16S/metabolismo , Adulto Joven
14.
Front Microbiol ; 11: 2099, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33013766

RESUMEN

The maternal vaginal microbiome is an important source for infant gut microbiome development. However, infants delivered by Cesarean section (CS) do not contact the maternal vaginal microbiome and this delivery method may perturb the early establishment and development of the gut microbiome. The aim of this study was to investigate the early gut microbiota of Korean newborns receiving the same postpartum care services for two weeks after birth by delivery mode using fecal samples collected at days 3, 7, and 14. Early gut microbiota development patterns were examined using 16S rRNA gene-based sequencing from 132 infants either born vaginally (VD, n = 64) or via Cesarean section (CS, n = 68). VD-born neonates showed increased alpha diversity in infant fecal samples collated at days 7 and 14 compared to those from day 3, while those of CS infants did not differ (p < 0.015). Bacterial structures of infants from both groups separated at day 7 (p < 0.001) and day 14 (p < 0.01). The bacterial structure of VD infants gradually changed over time (day 3 vs. day 7, p < 0.012; day 3 vs. day 14, p < 0.001). Day 14 samples of CS infants differed from day 3 and 7 samples (day 3 vs. day 14, p < 0.001). VD infant relative abundance of Bifidobacterium (days 7, 14), Bacteroides (days 7, 14), and Lachnospiraceae (day 7) significantly increased compared to CS infants, with a lower abundance of Enterobacteriaceae (found in all periods of the CS group) (LDA > 3.0). Relative abundances of Bifidobacterium, Lactobacillus, and Staphylococcus were significantly increased in both VD and CS groups at day 14 (LDA > 3.0). Predicted functional analysis showed that VD infants had overrepresented starch/sucrose, amino acid and nucleotide metabolism in gut microbiota with depleted lipopolysaccharide biosynthesis until day 14 compared to CS infants. This study confirmed that delivery mode is the major determinant of neonatal intestinal microbiome establishment and provides a profile of microbiota perturbations in CS infants. Our findings provide preliminary insight for establishing recovery methods to supply the specific microbes missing in CS infants.

15.
Microbiol Resour Announc ; 9(23)2020 Jun 04.
Artículo en Inglés | MEDLINE | ID: mdl-32499362

RESUMEN

We present the draft genome sequences of two Bifidobacterium dentium strains isolated from a fecal extract for fecal microbiota transplantation at a hospital in the Republic of Korea. Phylogenetic and functional analyses were performed to understand the physiological characteristics and functions of Bifidobacterium spp. in the human intestine.

16.
Int J Mol Med ; 25(3): 315-20, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20127034

RESUMEN

Congenital hearing loss (HL) is the most common sensory disorder in humans, affecting one in 1000 infants at birth. A high degree of genetic heterogeneity makes it difficult to screen for mutations in all known deafness genes in clinical applications. We have improved a genotyping microarray using the multiplex PCR-based allele-specific primer extension (ASPE) reaction and applied this method for the genetic diagnosis of congenital HL in Korea. Seven different mutations in the GJB2, SLC26A4 and mitochondrial 12S rRNA genes, which were identified on the basis of a previous study in a Korean population, were selected for the study. These genes were used to evaluate the accuracy of the microarray. The test for validation of the current version of HL genotyping microarray was fully concordant with the results of DNA sequencing in which 51 subjects with non-syndromic HL were originally genotyped. Furthermore, the blind test of the genotyping microarray detected four different mutations in 10 out of 65 patients, and the accuracy of microarray was calculated as 98% (64/65). Therefore, our results suggest that this HL genotyping microarray will be useful in clinical applications for the genetic diagnosis of HL.


Asunto(s)
Alelos , Análisis Mutacional de ADN/métodos , Pruebas Genéticas , Pérdida Auditiva/genética , Análisis por Micromatrices/métodos , Mutación , Adolescente , Adulto , Niño , Preescolar , Conexina 26 , Conexinas , Cartilla de ADN/genética , Femenino , Genotipo , Humanos , Masculino , Adulto Joven
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