7 results match your criteria: "Medical Genetics Institutes[Affiliation]"
The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.
Per Med
June 2024
Gene Solutions, Ho Chi Minh, Vietnam.
Article Synopsis
- This study investigates the use of copy number variation sequencing (CNV-seq) to identify chromosomal abnormalities in a diverse group of 3,776 pregnant Vietnamese women who had abnormal ultrasound results.* -
- Out of the participants, 448 women were found to have chromosomal aberrations, with 274 exhibiting chromosomal aneuploidies and 174 having pathogenic CNVs.* -
- The findings highlight the significance of CNV-seq in improving prenatal diagnosis and understanding fetal ultrasound anomalies, reinforcing the need for diverse participant representation in such studies.*
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis.
J Hum Genet
May 2023
Human Genetics Department, National Children's Hospital, Hanoi, Vietnam.
Background: Citrin deficiency (CD), a disorder caused by mutations in the SLC25A13 gene, may result in neonatal intrahepatic cholestasis. This study was purposely to explore the mutation spectrum of SLC25A13 gene in Vietnamese CD patients.
Methods: The 292 unrelated CD patients were first screened for four high-frequency mutations by PCR/PCR-RFLP.
High prevalence of maternal mosaic monosomy X in pregnant women in Vietnam.
J Matern Fetal Neonatal Med
December 2023
Medical Genetics, Medical Genetics Institutes, Ho Chi Minh City, Vietnam.
Article Synopsis
- The study aimed to assess the prevalence of maternal mosaic monosomy X (MMXO) among pregnant women in Vietnam using noninvasive prenatal screening methods.
- Out of over 105,000 women analyzed, 295 were suspected of having MMXO, with further testing confirming 125 cases, resulting in a confirmed prevalence of 0.118%.
- The results indicate that MMXO significantly affects chromosome X measurements, leading to many false positives when using size-based methods, while the count-based method is better for accurate results.
Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve α- and β-Thalassemia Carrier Screening in Pregnant Women in Vietnam.
Hemoglobin
July 2022
Medical Genetics Institutes, Ho Chi Minh City, Vietnam.
Article Synopsis
- Vietnam has a significant thalassemia issue, with a study of 5,880 pregnant women revealing a 13.13% carrier frequency for thalassemia.
- The breakdown of carriers included 7.82% for α-thalassemia and 5.31% for β-thalassemia, with common mutations identified in both types.
- The study highlights the effectiveness of combining next-generation sequencing with gap-PCR for comprehensive thalassemia screening, estimating that around 5,021 babies could be born with severe thalassemia in Vietnam each year.
Mutation spectrum of gene in pediatric patients with Wilson disease in Vietnam.
Mol Genet Metab Rep
June 2022
Department of Human Genetics, National Children's Hospital, Hanoi, Viet Nam.
Background: Wilson disease (WD) is caused by mutations in the copper-transporting P-type adenosine triphosphatase encoded by the gene. In this study, we screened and identified the mutations among unrelated Vietnamese pediatric patients.
Methods: One-hundred-thirteen pediatric patients with clinically diagnosed WD were recruited.
Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.
Medicine (Baltimore)
June 2022
Hepatology Department, National Children's Hospital, Hanoi, Vietnam.
Rationale: Congenital bile acid synthesis defect (BASD) is a rare disease caused by mutations in the aldo-keto reductase 1D1 gene, which encodes the primary Δ4-3-oxosteroid 5β-reductase enzyme. Early disease diagnosis is critical for early treatment with bile acid replacement therapy, with an excellent chance for recovery. In contrast, protracted diagnosis and treatment may lead to poor outcomes, including decompensated hepatic cirrhosis, liver transplant, and even death.
View Article and Find Full Text PDFGenome-wide linkage of plasma adiponectin reveals a major locus on chromosome 3q distinct from the adiponectin structural gene: the IRAS family study.
Diabetes
June 2006
Medical Genetics Institutes, Cedars-Sinai Medical Center, 8700 Beverly Blvd., 665W, Los Angeles, CA 90048, USA.
Adiponectin (APM1) is an adipocyte-derived peptide that contributes to glucose, lipid, and energy homeostasis. We assessed the genetic basis of plasma adiponectin in Hispanic-American and African-American families enrolled through the Insulin Resistance Atherosclerosis Study Family Study. A 10-cM genome scan was performed in two batches: an original set (set 1) consisting of 66 families (45 Hispanic American and 21 African American) and a replication set (set 2) consisting of 66 families (45 Hispanic American and 21 African American).
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