Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype

2015 ◽  
Vol 147 (2-3) ◽  
pp. 130-134 ◽  
Author(s):  
Mileny E.S. Colovati ◽  
Silvia Bragagnolo ◽  
Roberta S. Guilherme ◽  
Anelisa G. Dantas ◽  
Maria F. Soares ◽  
...  
Keyword(s):  
Cervical Spine ◽  
Environmental Factors ◽  
Candidate Genes ◽  
Chromosome Aberrations ◽  
Genetic Factors ◽  
Chromosomal Abnormalities ◽  
Chromosome 22 ◽  
Genomic Array ◽  
Facial Development ◽  
22Q Deletion

The oculo-auriculo-vertebral spectrum (OAVS) is defined as a group of malformations involving the ears, mouth, mandible, eyes, and cervical spine. Establishing an accurate clinical diagnosis of OAVS is a challenge for clinical geneticists, not only because these patients display heterogeneous phenotypes, but also because its etiology encompasses environmental factors, unknown genetic factors and different chromosome aberrations. To date, several chromosomal abnormalities have been associated with the syndrome, most frequently involving chromosome 22. In the literature, six 22q11.2 microdeletions have been described within the same region, suggesting possible OAVS candidate genes in this segment. Here, we report on a patient with an ∼581-kb 22q11.21 deletion, detected by genomic array and MLPA. This is the 7th case described with OAVS and 22q deletion, suggesting that the 22q11.2 region may be related to the regulation of body symmetry and facial development.

Bestimmung der DNA-Schädigung in vitro

2010 ◽  
Vol 49 (S 01) ◽  
pp. S64-S68
Author(s):  
E. Dikomey
Keyword(s):  
Dna Damage ◽  
Cell Lines ◽  
Chromosome Aberrations ◽  
Genetic Factors ◽  
Double Strand Breaks ◽  
Strand Breaks ◽  
Cell Inactivation ◽  
Repair Mechanisms ◽  
Break Repair

SummaryIonising irradiation acts primarily via induction of DNA damage, among which doublestrand breaks are the most important lesions. These lesions may lead to lethal chromosome aberrations, which are the main reason for cell inactivation. Double-strand breaks can be repaired by several different mechanisms. The regulation of these mechanisms appears be fairly different for normal and tumour cells. Among different cell lines capacity of doublestrand break repair varies by only few percents and is known to be determined mostly by genetic factors. Knowledge about doublestrand break repair mechanisms and their regulation is important for the optimal application of ionising irradiation in medicine.

scholarly journals Polygenic risk score and risk of monoclonal B-cell lymphocytosis in caucasians and risk of chronic lymphocytic leukemia (CLL) in African Americans

Leukemia ◽  
2021 ◽  
Author(s):  
Geffen Kleinstern ◽  
J. Brice Weinberg ◽  
Sameer A. Parikh ◽  
Esteban Braggio ◽  
Sara J. Achenbach ◽  
...  
Keyword(s):  
Environmental Factors ◽  
B Cell ◽  
Risk Score ◽  
Genetic Factors ◽  
Strong Predictor ◽  
Lymphocytic Leukemia ◽  
European Ancestry ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
C Statistic

AbstractMonoclonal B-cell lymphocytosis (MBL) is a precursor to CLL. Other than age, sex, and CLL family-history, little is known about factors associated with MBL risk. A polygenic-risk-score (PRS) of 41 CLL-susceptibility variants has been found to be associated with CLL risk among individuals of European-ancestry(EA). Here, we evaluate these variants, the PRS, and environmental factors for MBL risk. We also evaluate these variants and the CLL-PRS among African-American (AA) and EA-CLL cases and controls. Our study included 560 EA MBLs, 869 CLLs (696 EA/173 AA), and 2866 controls (2631 EA/235 AA). We used logistic regression, adjusting for age and sex, to estimate odds ratios (OR) and 95% confidence intervals within each race. We found significant associations with MBL risk among 21 of 41 variants and with the CLL-PRS (OR = 1.86, P = 1.9 × 10−29, c-statistic = 0.72). Little evidence of any association between MBL risk and environmental factors was observed. We observed significant associations of the CLL-PRS with EA-CLL risk (OR = 2.53, P = 4.0 × 10−63, c-statistic = 0.77) and AA-CLL risk (OR = 1.76, P = 5.1 × 10−5, c-statistic = 0.62). Inherited genetic factors and not environmental are associated with MBL risk. In particular, the CLL-PRS is a strong predictor for both risk of MBL and EA-CLL, but less so for AA-CLL supporting the need for further work in this population.

scholarly journals Decreased heritability and emergence of novel genetic effects on pulse wave velocity from youth to young adulthood

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yisong Huang ◽  
Shaoyong Su ◽  
Harold Snieder ◽  
Frank Treiber ◽  
Gaston Kapuku ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Pulse Wave Velocity ◽  
Wave Velocity ◽  
Young Adulthood ◽  
Ethnic Differences ◽  
Genetic Factors ◽  
Pulse Wave ◽  
Environmental Influences ◽  
Genetic Effects ◽  
Over Time

AbstractIncreased arterial stiffness measured by pulse wave velocity (PWV) is an important parameter in the assessment of cardiovascular risk. Our previous longitudinal study has demonstrated that carotid-distal PWV showed reasonable stability throughout youth and young adulthood. This stability might be driven by genetic factors that are expressed consistently over time. We aimed to illustrate the relative contributions of genetic and environmental factors to the stability of carotid-distal PWV from youth to young adulthood. We also examined potential ethnic differences. For this purpose, carotid-distal PWV was measured twice in 497 European American (EA) and African American (AA) twins, with an average interval time of 3 years. Twin modelling on PWV showed that heritability decreased over time (62–35%), with the nonshared environmental influences becoming larger. There was no correlation between the nonshared environmental factors on PWV measured at visit 1 and visit 2, with the phenotypic tracking correlation (r = 0.32) completely explained by shared genetic factors over time. Novel genetic influences were identified accounting for a significant part of the variance (19%) at the second measurement occasion. There was no evidence for ethnic differences. In summary, novel genetic effects appear during development into young adulthood and account for a considerable part of the variation in PWV. Environmental influences become larger with age for PWV.

What is the Evolutionary Advantage of Migraine?

Cephalalgia ◽  
2002 ◽  
Vol 22 (8) ◽  
pp. 624-632 ◽  
Author(s):  
E Loder
Keyword(s):  
Nervous System ◽  
Natural Selection ◽  
Environmental Factors ◽  
Genetic Factors ◽  
Evolutionary Perspective ◽  
Defence Mechanism ◽  
Design Constraint ◽  
Trade Off ◽  
Evolutionary Advantage ◽  
Evolutionary Explanations

Susceptibility to migraine is determined by genetic factors and is therefore subject to the forces of natural selection. Migraine is a common and ancient disorder whose prevalence may be increasing, suggesting that a migraine-prone nervous system may be associated with reproductive or survival advantages. Five evolutionary explanations are reviewed that might account for the persistence of migraine: (i) migraine as a defence mechanism; (ii) migraine as a result of conflict with other organisms; (iii) migraine as result of novel environmental factors; (iv) migraine as a trade-off between genetic harms and benefits; and (v) migraine as a design constraint. An evolutionary perspective on migraine allows the generation of important hypotheses about the disorder and suggests rewarding possibilities for further research.

Neural Tube Defects: A Two-Pronged Approach to Primary Prevention

PEDIATRICS ◽  
1982 ◽  
Vol 70 (4) ◽  
pp. 648-650
Author(s):  
K. M. Laurence
Keyword(s):  
Folic Acid ◽  
Primary Prevention ◽  
Environmental Factors ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Genetic Background ◽  
Genetic Factors ◽  
Maternal Nutrition ◽  
Folic Acid Deficiency ◽  
Acid Deficiency

It is generally agreed that neural tube defects (NTD) have a multifactorial etiology when genetic factors render the developing fetus susceptible to intrauterine environmental factors acting during the fourth week of gestation to interfere with the orderly closure of the neural tube.1 As there is little likelihood that anything can be done about the genetic background, primary prevention would therefore be dependent on eliminating these factors from the environment or avoiding them. My intention here is to enlarge on some aspects of primary prevention of NTD as outlined by Smithells in an earlier issue (Pediatrics 69:498, 1982).2 One environmental factor, poor maternal nutrition and, more particularly, folic acid deficiency seems now to have been identified, but there are almost certainly a number of others.

The Nature and Origin of Common Phobic Fears

1979 ◽  
Vol 134 (4) ◽  
pp. 343-351 ◽  
Author(s):  
Svenn Torgersen
Keyword(s):  
Environmental Factors ◽  
Social Adjustment ◽  
Twin Study ◽  
Genetic Factors ◽  
Factor Analyses ◽  
Factors Affecting ◽  
Five Factors

SummaryBy means of a twin study an attempt was made to throw light upon the aetiology and nosology of phobic fears. Factor analyses revealed five factors, namely separation fears, animal fears, mutilation fears, social fears and nature fears. The study demonstrated that, apart from separation fears, genetic factors play a part in the strength as well as content of phobic fears. Environmental factors, affecting the development of dependence, reserve and neurotic traits generally, seemed also to be of some importance. It was further demonstrated that phobic fears were related to emotional and social adjustment and this was true to an even greater extent for separation fears.

scholarly journals Genetic and environmental influences on disgust proneness, contamination sensitivity, and their covariance

2020 ◽  
Author(s):  
Joshua M. Tybur ◽  
Laura Wesseldijk ◽  
Patrick Jern
Keyword(s):  
Environmental Factors ◽  
Anxiety Disorders ◽  
Genetic Factors ◽  
Environmental Influences ◽  
Parental Modeling ◽  
Disgust Proneness ◽  
Twin Modeling ◽  
Contamination Sensitivity

Dozens of studies indicate that individuals more prone to experiencing disgust have stronger symptoms of anxiety disorders – especially contamination sensitivity. However, no work has informed the degree to which this relationship arises from genetic versus environmental factors. The present study fills this gap by measuring disgust proneness and contamination sensitivity in a sample of 7,199 twins and siblings of twins, including 1,411 complete twin pairs. Disgust proneness was related to contamination sensitivity, r = .32. Multivariate twin modeling revealed that genetic factors accounted for 34% and 40% of the variance in disgust proneness and contamination sensitivity, respectively, and that the correlation between the two traits reflected overlapping genetic (54%) and unshared environmental (46%) – but not shared environmental – influences. While consistent with work indicating that disgust proneness relates to contamination sensitivity, results suggest that parental-modeling hypotheses for explaining this relationship be re-evaluated.

scholarly journals Identification of genetic factors controlling phosphorus utilization efficiency in wheat by genome-wide association study with principal component analysis

2020 ◽  
Author(s):  
Luqman Bin Safdar ◽  
Muhammad Jawad Umer ◽  
Fakhrah Almas ◽  
Siraj Uddin ◽  
Qurra-tul-Ain Safdar ◽  
...  
Keyword(s):  
Association Study ◽  
Candidate Genes ◽  
Genetic Factors ◽  
Genome Wide Association Study ◽  
Principal Component ◽  
Utilization Efficiency ◽  
Genome Wide Association ◽  
Genome Wide ◽  
P Utilization ◽  
P Utilization Efficiency

ABSTRACTDespite the economic importance of P utilization efficiency, information on genetic factors underlying this trait remains elusive. To address that, we performed a genome-wide association study in a spring wheat diversity panel ranging from landraces to elite varieties. We evaluated the phenotype variation for P utilization efficiency in controlled conditions and genotype variation using wheat 90K SNP array. Phenotype variables were transformed into a smaller set of uncorrelated principal components that captured the most important variation data. We identified two significant loci associated with both P utilization efficiency and the 1st principal component on chromosomes 3A and 4A: qPE1-3A and qPE2-4A. Annotation of genes at these loci revealed 53 wheat genes, among which 6 were identified in significantly enriched pathways. The expression pattern of these 6 genes indicated that TraesCS4A02G481800, involved in pyruvate metabolism and TCA cycle, had a significantly higher expression in the P efficient variety under limited P conditions. Further characterization of these loci and candidate genes can help stimulate P utilization efficiency in wheat.KEY MESSAGEWe report two new loci for P utilization efficiency on chromosomes 3A and 4A of wheat. The prioritized candidate genes at these loci can be investigated by molecular biology techniques to improve P efficiency in wheat and grass relatives.

scholarly journals Genetic causes of reproductive problems in the Bosnian women population

2018 ◽  
Vol 9 (5) ◽  
pp. 12-16
Author(s):  
Mirela Mackic-Djurovic ◽  
Dunja Rukavina ◽  
Lejla Ahmetas
Keyword(s):  
Chromosomal Aberrations ◽  
Genetic Factors ◽  
Chromosomal Abnormalities ◽  
Population Sample ◽  
Medical Sciences ◽  
Abnormal Karyotype ◽  
Female Population ◽  
Reproductive Disorder ◽  
The Difference ◽  
Bosnian Women

Background: The causes of infertility and recurrent spontaneous abortions are diverse and numerous – including non-genetic and genetic factors – whereby the importance of genetic factors in pathogenesis of infertility is becoming more and more common. Chromosomal abnormalities and genetic defects can cause reproduction failures, and for this reason genetic analysis can play an important role in reproductive problems research.Aims and Objective: This study aims to determine the type and frequency of chromosomalaberrations in the female population sample, as well as to determine if the difference between groups with and without chromosomal aberrations was statistically significant.Materials and Methods: One hundred women aged 15-46 were included in the study, allhaving different reproductive disorder diagnoses and requiring karyotype analysis in the Sarajevo Medical Faculty Genetic Center. Cytogenetic analysis was performed on the peripheral blood, which was cultured for four days, using GTG banding forchromosomalanalysis.Results: Out of 100 women included in the study, an abnormal karyotype was found in 16 of them (16%). The difference between the frequency of normal and abnormal karyotype in women with reproductive problems identified in this study was found to be statistically significant. The pattern of chromosomal aberrations was similar to that reported in the previous cytogenetic studies with similar inclusion criteria.Conclusion: This fact should be taken in the consideration in order to estimate true etiology of reproductive problems and it is a valuable information in the process of genetic counseling and decision making in assisted reproductive technology.Asian Journal of Medical Sciences Vol.9(5) 2018 12-16

Acquired Aganglionic Megacolon in a Premature Infant: Report of a Case

PEDIATRICS ◽  
1975 ◽  
Vol 56 (3) ◽  
pp. 459-462
Author(s):  
Robert J. Touloukian ◽  
Raymond Duncan
Keyword(s):  
Case Report ◽  
Environmental Factors ◽  
Premature Infant ◽  
Ganglion Cell ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Genetic Factors ◽  
Male Infant ◽  
Distal Colon ◽  
Premature Newborn

Hirschsprung's disease is presumably caused by intrauterine environmental or genetic factors which prevent the migration and formation of the intramural ganglion cell (IMG) in the distal colon. While the IMG is known to be particularly sensitive to anoxemia and other postnatal environmental factors, its selective loss following such stress has not been substantiated in an unoperated patient. The following report of a stressed premature newborn with the clinical and radiographic features of Hirschsprung's disease clearly documents the histologic disappearance of the IMG from the distal colon. CASE REPORT D.J. (#88-65-29), a 1,525-gm male infant, was born to a healthy 22-year-old abortus 0, gravida 1, para 0 mother following an uncomplicated 30-week gestation, ending in a spontaneous uncomplicated delivery.

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