Detection of foetal single gene mutations using only maternal blood samples

2021 ◽  
Vol 25 (1/2) ◽  
pp. 53
Author(s):  
Junghyun Namkung
Keyword(s):  
Single Gene ◽  
Gene Mutations ◽  
Maternal Blood ◽  
Blood Samples

Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism

2016 ◽  
Vol 29 (1) ◽  
Author(s):  
Erik Artur Cortinhas Alves ◽  
Raissa Coelho Andrade ◽  
Carlos Eduardo de Melo Amaral ◽  
Milena Coelho Fernandes Caldato ◽  
Adriana Maria Rocha Bastos ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Peripheral Blood ◽  
Genomic Dna ◽  
Gene Mutations ◽  
Molecular Heterogeneity ◽  
Coding Region ◽  
Blood Samples ◽  
Live Births ◽  
Tshr Gene ◽  
Inactivating Mutations

AbstractPrimary congenital hypothyroidism (PCH) has an incidence of approximately 1 in each 3000–4000 live births. In the last two decades, nearly 50 types of the distinct inactivating mutations have already been described in the coding region of the tshr gene. The aim of present study was to investigate tshr gene mutations in patients with primary congenital hypothyroidism, analyzing a sample of 106 patients that were diagnosed with PCH. Genomic DNA was isolated from peripheral blood samples, and 10 exons from the TSH receptor were automatically sequenced. Five nucleotide alterations (P52T, N187N, A459A, L645L, and D727E. N187N and D727E polymorphisms) were associated with positive medical history. In view of the clinical, biochemical and molecular heterogeneity of the etiology of the PCH, the study of polymorphisms is critical for investigating the possible associations with prevailing symptoms of this disorder.

scholarly journals Metabolic disturbances of the vitamin A pathway in human diaphragmatic hernia

2015 ◽  
Vol 308 (2) ◽  
pp. L147-L157 ◽  
Author(s):  
Karen Coste ◽  
Leonardus W. J. E. Beurskens ◽  
Pierre Blanc ◽  
Denis Gallot ◽  
Amélie Delabaere ◽  
...  
Keyword(s):  
Diaphragmatic Hernia ◽  
Perinatal Death ◽  
Single Gene ◽  
Gene Mutations ◽  
Transcriptional Analysis ◽  
Metabolic Disturbances ◽  
Common Life ◽  
Retinoid Signaling ◽  
Life Threatening ◽  
Surgically Induced

Congenital diaphragmatic hernia (CDH) is a common life-threatening congenital anomaly resulting in high rates of perinatal death and neonatal respiratory distress. Some of the nonisolated forms are related to single-gene mutations or genomic rearrangements, but the genetics of the isolated forms (60% of cases) still remains a challenging issue. Retinoid signaling (RA) is critical for both diaphragm and lung development, and it has been hypothesized that subtle disruptions of this pathway could contribute to isolated CDH etiology. Here we used time series of normal and CDH lungs in humans, in nitrofen-exposed rats, and in surgically induced hernia in rabbits to perform a systematic transcriptional analysis of the RA pathway key components. The results point to CRPBP2, CY26B1, and ALDH1A2 as deregulated RA signaling genes in human CDH. Furthermore, the expression profile comparisons suggest that ALDH1A2 overexpression is not a primary event, but rather a consequence of the CDH-induced lung injury. Taken together, these data show that RA signaling disruption is part of CDH pathogenesis, and also that dysregulation of this pathway should be considered organ specifically.

CAPACITY OF THYROXINE-BINDING GLOBULIN TO BIND TRIIODOTHYRONINE AND THYROXINE IN MATERNAL AND CORD BLOOD

PEDIATRICS ◽  
1962 ◽  
Vol 29 (3) ◽  
pp. 369-375
Author(s):  
William M. Michener ◽  
W. Newlon Tauxe ◽  
Alvin B. Hayles
Keyword(s):  
Cord Blood ◽  
Normal Values ◽  
Binding Capacity ◽  
Quantitative Difference ◽  
Maternal Blood ◽  
Blood Samples ◽  
Thyroxine Binding Globulin

Normal values for the measurement of thyroidal function using the erythrocytic uptake of I131-labeled triiodothyronine and the thyroxine-binding capacity of the inter-alpha globulin were established. Paired maternal and cord blood samples collected at the time of delivery were studied with these methods. The erythrocytic uptake of labeled hormone was increased in cord blood as compared to maternal blood. Cord blood apparently binds exogenous triiodothyronine in a different manner than it does exogenous thyroxine. Whether this is a qualitative or quantitative difference was not shown in this study.

scholarly journals A novel approach to stabilize fetal cell-free DNA fraction in maternal blood samples for extended period of time

PLoS ONE ◽  
2018 ◽  
Vol 13 (12) ◽  
pp. e0208508 ◽  
Author(s):  
M. Rohan Fernando ◽  
Chao Jiang ◽  
Gary D. Krzyzanowski ◽  
Tifany Somer-Shely ◽  
Wayne L. Ryan
Keyword(s):  
Extended Period ◽  
Maternal Blood ◽  
Fetal Cell ◽  
Cell Free Dna ◽  
Blood Samples ◽  
Free Dna ◽  
Novel Approach

scholarly journals Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

2017 ◽  
Vol 3 (5) ◽  
pp. e177 ◽  
Author(s):  
Javier Ruiz-Martínez ◽  
Luis J. Azcona ◽  
Alberto Bergareche ◽  
Jose F. Martí-Massó ◽  
Coro Paisán-Ruiz
Keyword(s):  
Parkinson Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genome Wide Association Study ◽  
Single Gene ◽  
Gene Mutations ◽  
Complement Control Protein ◽  
Genome Wide ◽  
Whole Exome ◽  
A Genome

Objective:Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion of the cases.Methods:In this study, we clinically evaluated 2 unrelated Spanish families diagnosed with PD, in which known PD genes were previously excluded, and performed whole-exome sequencing analyses in affected individuals for disease gene identification.Results:Patients were diagnosed with typical PD without relevant distinctive symptoms. Two different novel mutations were identified in the CSMD1 gene. The CSMD1 gene, which encodes a complement control protein that is known to participate in the complement activation and inflammation in the developing CNS, was previously shown to be associated with the risk of PD in a genome-wide association study.Conclusions:We conclude that the CSMD1 mutations identified in this study might be responsible for the PD phenotype observed in our examined patients. This, along with previous reported studies, may suggest the complement pathway as an important therapeutic target for PD and other neurodegenerative diseases.

scholarly journals miR-16-5p, miR-103-3p, and miR-27b-3p as Early Peripheral Biomarkers of Fetal Growth Restriction

2021 ◽  
Vol 9 ◽  
Author(s):  
Salvatore Tagliaferri ◽  
Pasquale Cepparulo ◽  
Antonio Vinciguerra ◽  
Marta Campanile ◽  
Giuseppina Esposito ◽  
...  
Keyword(s):  
Fetal Growth ◽  
Gestational Age ◽  
Fetal Growth Restriction ◽  
Late Onset ◽  
Maternal Blood ◽  
Growth Restriction ◽  
Therapeutic Interventions ◽  
Control Group ◽  
Fetal Hypoxia ◽  
Blood Samples

Current tests available to diagnose fetal hypoxia in-utero lack sensitivity thus failing to identify many fetuses at risk. Emerging evidence suggests that microRNAs derived from the placenta circulate in the maternal blood during pregnancy and may be used as non-invasive biomarkers for pregnancy complications. With the intent to identify putative markers of fetal growth restriction (FGR) and new therapeutic druggable targets, we examined, in maternal blood samples, the expression of a group of microRNAs, known to be regulated by hypoxia. The expression of microRNAs was evaluated in maternal plasma samples collected from (1) women carrying a preterm FGR fetus (FGR group) or (2) women with an appropriately grown fetus matched at the same gestational age (Control group). To discriminate between early- and late-onset FGR, the study population was divided into two subgroups according to the gestational age at delivery. Four microRNAs were identified as possible candidates for the diagnosis of FGR: miR-16-5p, miR-103-3p, miR-107-3p, and miR-27b-3p. All four selected miRNAs, measured by RT-PCR, resulted upregulated in FGR blood samples before the 32nd week of gestation. By contrast, miRNA103-3p and miRNA107-3p, analyzed between the 32nd and 37th week of gestation, showed lower expression in the FGR group compared to aged matched controls. Our results showed that measurement of miRNAs in maternal blood may form the basis for a future diagnostic test to determine the degree of fetal hypoxia in FGR, thus allowing the start of appropriate therapeutic interventions to alleviate the burden of this disease.

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