FIGURE 4 - uploaded by Tarek Atia
Content may be subject to copyright.
Illustration of the whole genome, whole exome and targeted gene/s sequencing. F i rst , t he ge nom i c DNA i s e x t r a c te d, fragmented into small pieces, cloned, amplified and sequenced separately. After that, assemble ordered sequencing (GenomixLAB, 2016; Commins et al., 2016).
Source publication
Recurring miscarriage (RM) is a frustrating reproductive complication with variable etiology. Numerous genetic defects have been known to play a crucial role in the etiology of RM. Chromosomal abnormalities are frequently detected, while other genetic defects cannot be diagnosed through routine research, such as cryptic chromosomal anomalies, singl...
Contexts in source publication
Context 1
... genetic mutations to provide the diagnosis of several unexplained disorders. This strategy offers genomic sequencing-based tests such as next-generation DNA sequences (NGS), with its subsequent variation that includes whole exomes (all exons), whole genomes, and analysis of multigene panels ( Liu et al., 2012;Quintero-Ronderos et al., 2017). Fig. 4 demonstrated the basics of the whole genome, whole exome, and the targeted genes/DNA sequences. Not only can NGS diagnose submicroscopic chromosomal rearrangement that cannot be detected by aCGH, but it can also detect variations in the DNA and RNA sequence. NGS can also detect epigenetic variants that contribute to genomic expression ...
Context 2
... genetic mutations to provide the diagnosis of several unexplained disorders. This strategy offers genomic sequencing-based tests such as next-generation DNA sequences (NGS), with its subsequent variation that includes whole exomes (all exons), whole genomes, and analysis of multigene panels ( Liu et al., 2012;Quintero-Ronderos et al., 2017). Fig. 4 demonstrated the basics of the whole genome, whole exome, and the targeted genes/DNA sequences. Not only can NGS diagnose submicroscopic chromosomal rearrangement that cannot be detected by aCGH, but it can also detect variations in the DNA and RNA sequence. NGS can also detect epigenetic variants that contribute to genomic expression ...
Similar publications
Citations
... Proper chromosome separation requires one or more crossovers within the DNA between homologous maternal and paternal chromosomes in combination with the coupling of the arms of the chromatid sisters. However, 25% remain in this state and this is called the maternal age effect (47). Embryonic aneuploidy occurs when chromosome aberrations are present in gametes or early embryos (48,49). ...
Viruses and genetics in pregnancy and birth
Čulić Vida1,2, Robert Vulić1, Maja Radman3, Tamara Bošnjak4, Jasminka Rešić Karara5,
Maria Lopatkina6 and Igor Lebedev6
1 Gynecology and Obstetrics Private Outpatient Clinic, Split, Croatia
2 Laboratory for Human Genetics, Department of Medical Genetics, Pediatrics Clinic,
University Hospital Centre Split, Split, Croatia
3 Clinics for Internal Medicine, Department of Endocrinology, Diabetes and Metabolism,
University Hospital Center Split, Split, Croatia
4Neonatology Department, Clinics for Gynecology and Obstetrics, University Hospital Centre
Split, Split, Croatia
5Clinics for Gynecology and Obstetrics, University Hospital Centre Split, Split, Croatia
6Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk,
Russia
ABSTRACT
In this study we presented several patients with genital infections during pregnancy, perinatal
infection, de novo genetics syndromes, sterility problems and spontaneous abortions with
HSV1, HSV2, CMV, Adeno, Parvo B19, RSV, EBV and Coxsackie virus. Spontaneous
abortion were provoked (or at least associated) with viral infection. For some we had expected
such pregnancy outcomes, and for some we observed chromosome breaks that by repetitive
screening, after cessation of acute viral infection, could no longer been seen. Nonspecific
chromosomal aberrations were associated with HSV type 2, herpes zoster and Ebstein Barr
virus infection.
SCIREA Journal of Biology
http://www.scirea.org/journal/Biology
October 30, 2023
Volume 8, Issue 5, October 2023
https://doi.org/10.54647/biology180326
139
EBV is a causative agent of autoimmune entities were polyclonality in serological findings is
present, we are searching for the same answer in the cause of spontaneous abortion with or
without chromosomes abnormalities with atypical serology values of those viruses at both
partners.
... HLA DQA1, DQB1, and DRB1 genes are within the histocompatibility complex, which encodes a large number of immunological proteins, including classic human leukocyte antigen (HLA). In recent years, the role of HLA has been widely studied in the genesis of recurrent miscarriage, which is represented by more than 150 antigens (14)(15)(16)(17)(18). Trophoblast antigenic composition is mainly represented by histocompatibility antigens class II (HLA DRB1, DQA1, DQB1), which allows them to be used as immunological markers of RM development (19). ...
Background:
It seems that 50% of the possible causes of recurrent miscarriage do not have any explainable etiology and they require in-depth etiopathogenesis analysis. The purpose of this research was to study polymorphisms relationship of the immune response genes including Val249Ile CX3CR1 (rs3732379), CT60 G/A CTLA4 (rs3087243), and HLA DQA1, DQB1, DRB1 (major histocompatibility complex, class II) with development of idiopathic form of recurrent miscarriage (iRM) in Kazakh population.
Methods:
TagMan genotyping for 302 patients with iRM and 300 women with normal reproduction was performed. Molecular genetic studies were carried out by the TaqMan method of unified site-specific amplification and real-time genotyping using test systems. Statistical tests and Chi Square were carried out using PLINK, STATA13 software and p<0.05 was considered statistically significant.
Results:
It has been shown that carriage of unfavorable genotypes (Val/Ile, Val/Val) by the Val249Ile polymorphism of CX3CR1 gene increases the risk of developing iRM by 1.43 times. Search for associations of genes allelic variants of HLA class 2 complex with iRM revealed 501 allele in DQA1 locus, 0301 in DQB1 locus, 10, 12, 15, 16 alleles in DRB1 locus, which increase the risk of developing iRM in Kazakh population.
Conclusion:
The highly significant associations of immune response genes with development of iRM in Kazakh population indicate the possible involvement of the immune system interaction of mother cells with syncytiotrophoblast, which is realized by vascular defects and defective embryo implantation, causing termination of pregnancy.
Introduction: Lethal multiple pterygium syndrome (LMPS) is a very rare genetic syndrome that is usually lethal in
the second or third trimester of pregnancy. The prevalence of this syndrome is about <1 in 100,000 and homozygous or compound heterozygous mutations of different genes encoding subunits of the acetylcholine receptor will result in and Recurrent pregnancy loss.
Materials and methods: Present study involves two couples referred with three and four recurrent miscarriages,
respectively. To find out the cause of recurrent miscarriage in these couples, pathological, immunological and
hormonal tests were requested for the mother and high-resolution giemsa banding karyotypes were requested for
the father and mother. Additionally, the product of abortion from aborted fetus sampling was used for array CGH
and whole-exome sequencing in order to perform mutation analysis in both probands.
Results: Based on the results, the first proband has a homozygous likely pathogenic variant (NM_005199.5: exon
6: c.518dup: p.Tyr173Ter) in the CHRNG. The second proband has homozygous mutation NM_005199: exon7:
c.753_754del: p.P251fs in CHRNG gene as a novel pathogenic mutation of the CHRNG gene, and notably, it is
confirmed that both of the above variants are possible risk factors for Lethal type multiple pterygium syndrome
and Recurrent pregnancy loss.
Conclusion: CHRNG gene mutations variants (NM_005199.5: exon 6: c.518dup: p.Tyr173Ter and novel
NM_005199: exon7: c.753_754del: p.P251fs) found by whole exome sequencing are related to Recurrent pregnancy loss.
Recurrent pregnancy loss (RPL) is a polyetiological pathology, with the majority of causes and risk factors still not fully understood. The paper provides an overview of the current clinical guidelines on RPL, which shows the contradictions of recommendations for certain positions of examination and treatment. Taking into account the differences in the recommendations for genetic testing a detailed review of primary sources on the contribution of chromosomal pathology to RPL was done that confirms the value of cytogenetic testing of the conception product and need for attention to study of other than mother's age factors that increase the risk of recurrent quantitative chromosomal abnormalities (aneuploidies, polyploidies). Balanced structural chromosomal abnormalities are the cause 5% of RPL. Carriers of balanced structural abnormalities do not phenotypically differ from people with a normal karyotype, but have a high risk of infertility, recurrent miscarriage, stillbirth, and birth of a child with chromosomal abnormalities. Examination of spouses with RPL for balanced structural chromosome abnormalities is the first and mandatory stage of examination, especially if cytogenetic examination of the conception products was not performed or was not informative. This article also includes a review of studies in 2019-2020 years on improving diagnostic algorithms for the RPL causes to reduce the idiopathic cases. Scientific researches prove that a complete examination to identify all possible causes of RPL regardless of the result of the conception product karyotype determining can reduce the frequency of idiopathic RPL to 10-15%. Thus, the exhaustive examination of all couples with RPL (diagnosis of genetic, anatomical, autoimmune, hormonal and microbiological causes, as well as a thorough assessment of risk factors) can significantly reduce the proportion of idiopathic forms of RPL. This reduces the stress of uncertainty and unreasonable empirical treatment in patients and provides a possibility to develop an individual plan for reproduction, using assisted reproductive technologies if necessary.
