scholarly journals Association of MTHFR Polymorphisms and Chromosomal Abnormalities in Leukemia

2012 ◽  
Vol 32 (2) ◽  
pp. 115-121 ◽  
Author(s):  
Thivaratana Sinthuwiwat ◽  
Phanasit Poowasanpetch ◽  
Angsana Wongngamrungroj ◽  
Kamonwan Soonklang ◽  
Somying Promso ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Normal Karyotype ◽  
Chromosome Analysis ◽  
Chromosome Breakage ◽  
Mthfr Gene ◽  
Chromosome Abnormalities ◽  
Mthfr Polymorphisms ◽  
Lymphoid Malignancies ◽  
Fixed Cell ◽  
Structural Aberration

Genetic variation in MTHFR gene might explain the interindividual differences in the reduction of DNA repaired and the increase of chromosome breakage and damage. Nowadays, chromosomal rearrangement is recognized as a major cause of lymphoid malignancies. In addition, the association of MTHFR polymorphisms with aneuploidy was found in several studies, making the MTHFR gene as a good candidate for leukemia etiology. Therefore, in this study, we investigated the common sequence variation, 677C>T and 1298A>C in the MTHFR gene of 350 fixed cell specimens archived after chromosome analysis. The distribution of the MTHFR polymorphisms frequency was compared in leukemic patients with structural chromosome abnormality and chromosome aneuploidy, as well as in those with no evidence of chromosome abnormalities. We observed a significant decrease in the distribution of T allele in 677C>T polymorphisms among patients with chromosomal abnormalities including both structural aberration and aneuploidy. The same significance result also found in patients with structural aberration when compare with the normal karyotype patients. Suggesting that polymorphism in the MTHFR gene was involved in chromosome abnormalities of leukemia. However, further investigation on the correlation with the specific types of chromosomal aberrations is needed.

scholarly journals Nonrandom chromosomal aberrations in chronic lymphocytic leukemia revealed by polyclonal B-cell-mitogen stimulation

Blood ◽  
1980 ◽  
Vol 56 (4) ◽  
pp. 640-647 ◽  
Author(s):  
G Gahrton ◽  
KH Robert ◽  
K Friberg ◽  
L Zech ◽  
AG Bird
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Chromosomal Abnormalities ◽  
Extra Chromosome ◽  
Normal Karyotype ◽  
Chromosome Analysis ◽  
Peripheral Blood Lymphocytes ◽  
Lymphocytic Leukemia ◽  
Chromosome 12 ◽  
Banding Technique ◽  
Chromosome 11

Peripheral blood lymphocytes from 11 patients with chronic lymphocytic leukemia were stimulated by Epstein-Barr virus (EBV), lipopolysaccharide from Escherichia (LPS), and phytohemagglutinin (PHA). Chromosome analysis with the Q-banding technique after 5 days incubation revealed an extra chromosome 12 in 5 of the patients and a translocation between chromosome 11 and chromosome 14 in 1. Two patients had a deletion of chromosome 6, and only 3 patients had a normal karyotype. In most patients, the abnormalities were found in the majority of metaphases after stimulation with EBV, LPS, or both mitogens, while PHA revealed a normal karyotype, with the exception of a total of 4 metaphases in 3 patients. An extra chromosome 12 appears to be specifically associated with chronic lymphocytic leukemia. The frequency of chromosomal abnormalities in this disease appears to be much higher than has previously been thought.

scholarly journals Nonrandom chromosomal aberrations in chronic lymphocytic leukemia revealed by polyclonal B-cell-mitogen stimulation

Blood ◽  
1980 ◽  
Vol 56 (4) ◽  
pp. 640-647 ◽  
Author(s):  
G Gahrton ◽  
KH Robert ◽  
K Friberg ◽  
L Zech ◽  
AG Bird
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Chromosomal Abnormalities ◽  
Extra Chromosome ◽  
Normal Karyotype ◽  
Chromosome Analysis ◽  
Peripheral Blood Lymphocytes ◽  
Lymphocytic Leukemia ◽  
Chromosome 12 ◽  
Banding Technique ◽  
Chromosome 11

Abstract Peripheral blood lymphocytes from 11 patients with chronic lymphocytic leukemia were stimulated by Epstein-Barr virus (EBV), lipopolysaccharide from Escherichia (LPS), and phytohemagglutinin (PHA). Chromosome analysis with the Q-banding technique after 5 days incubation revealed an extra chromosome 12 in 5 of the patients and a translocation between chromosome 11 and chromosome 14 in 1. Two patients had a deletion of chromosome 6, and only 3 patients had a normal karyotype. In most patients, the abnormalities were found in the majority of metaphases after stimulation with EBV, LPS, or both mitogens, while PHA revealed a normal karyotype, with the exception of a total of 4 metaphases in 3 patients. An extra chromosome 12 appears to be specifically associated with chronic lymphocytic leukemia. The frequency of chromosomal abnormalities in this disease appears to be much higher than has previously been thought.

Ultrasound screening and catamnesis of euploid fetuses with nasal bones aplasia/hypoplasia

2017 ◽  
Author(s):  
N.P. Veropotvelyan, A.A. Bondarenko
Keyword(s):  
Chromosomal Abnormalities ◽  
Nasal Bone ◽  
Normal Karyotype ◽  
Psychomotor Development ◽  
Ultrasound Screening ◽  
Normal Height ◽  
Term Infants ◽  
Nasal Bones ◽  
Postnatal Outcome ◽  
Selection Of

Objective. To evaluate the pre- and postnatal outcomes of euploid fetuses with aplasia/hypoplasia of the nasal bones (NB). Methods. We have made the catamnestic monitoring of children with a normal karyotype, who had been prenatally detected NB aplasia or hypoplasia (less than 5 perentile) at 11–24 weeks of gestation at ultrasound screening in the period between 2006–2015 years. Our study included a selection of 242 fetuses with NB aplasia or hypoplasia, in 128 (52.8 %) of them the NB was not visualized or appeared as an echogenic dot only. Results. Among all 63 fetuses with NB aplasia (absence or looks as an echogenic dot) in the 1st trimester in 24 (38 %) cases chromosomal abnormalities (CA) were found (including T21 — 15 (62.5 %) cases). Other 39 (61.9 %) fetuses had a normal karyotype. Among 65 fetuses with NB aplasia, examined in the 2nd trimester of gestation 12 (18.4 %) cases of CA were detected (one fetus with T21 had the only one ultrasound marker – isolated NB aplasia), 53 (81.5 %) fetuses had a normal karyotype. 62 mothers of the euploid fetuses with NB aplasia had been surveyed. We have received and analyzed 31 (50 %) responses. In 16 cases of euploid fetuses with NB, aplasia pregnancy outcome was adverse or relatively unfavorable, only 5 (31.2 %) fetuses of them had isolated NB aplasia. In other cases healthy full-term infants were born, who showed normal height and weight indexes, physical and psychomotor development observed in age from 0 to 10. Conclusion. In 51.6 % fetuses and children prenatally had aplasia of the nasal bone was marked by unfavorable pre- or postnatal outcome, according to the survey of their mothers.

Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

2021 ◽  
pp. 112067212110006
Author(s):  
Manuel Marques ◽  
Francisco Alves ◽  
Miguel Leitão ◽  
Catarina Rodrigues ◽  
Joana Tavares Ferreira
Keyword(s):  
Risk Factors ◽  
Literature Review ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Mthfr Polymorphisms ◽  
Vein Occlusion ◽  
C677t Mutation ◽  
Retinal Vascular Disease

The role of polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene in retinal vein occlusion (RVO) is a theme of discussion since the first reports of RVO in patients with MTHFR C677T mutation and without classic acquired risk factors for retinal vascular disease. The association between MTHFR polymorphisms and RVO has been studied over the last 20 years producing conflicting results. This review aims to summarize the literature concerning the role MTHFR polymorphisms as risk factors for RVO.

P–575 Patients with recurrent implantation failures (RIF): chromosome abnormalities in the resulting embryos

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
C Albanese ◽  
D Perruzza ◽  
C Tabanelli ◽  
S Sgargi ◽  
M C Magli ◽  
...  
Keyword(s):  
Live Birth ◽  
Uterine Cavity ◽  
Implantation Rate ◽  
Normal Karyotype ◽  
Great Majority ◽  
Chromosome Analysis ◽  
Delivery Rate ◽  
Comparative Genomic ◽  
Male Factor ◽  
Preimplantation Genetic Testing

Abstract Study question Do RIF patients have the preimplantation genetic testing for aneuploidy (PGT-A) overcome their infertility condition? Summary answer PGT-A positively impact on implantation rate in RIF patients What is known already The most common definition of RIF is failure to achieve a pregnancy after three consecutive transfers of good quality embryos. This term possibly represents a heterogeneous category of infertile couples as the causes of repeated failures can be diverse. Especially intriguing is the case of patients with an age lower than 39 years for which the oocyte quality is expected not to be compromised by the well known age effect on female fertility. The chromosome analysis of the resulting embryos has been proposed as a valid method to improve implantation in the great majority of RIF patients Study design, size, duration This retrospective study included 49 patients with at least three previous consecutive implantation failures, which underwent PGT-A from January 2016 to April 2020. Both partners had a normal karyotype. Only patients with a female age below 39 years were included, who presented with a normal uterine cavity. Couples with a severe male factor were excluded. Single frozen blastocysts were transferred according to chromosomal results Participants/materials, setting, methods Maternal age was 35.5 ± 3.1 years. All blastocysts were vitrified after trophectoderm biopsy. Whole genome amplification and array comparative genomic hybridization were performed on biopsies. Only euploid embryos were transferred. The primary outcome was the live-birth delivery rate after the first transfer Main results and the role of chance Before starting a PGT-A cycle, these patients underwent 213 embryo transfers with 251 embryos replaced. A total of 264 blastocysts were analyzed, 140 of which were aneuploid (53%). Monosomy or trisomy was reported in 67 of the diagnosed samples (67/140, 48%) whereas the remaining 73 carried complex aneuploidies (73/140, 52%). The remaining 124 blastocysts (47%) were diagnosed as euploid. All patients performed an embryo transfer resulting in 28 clinical pregnancies (57%). There were 5 spontaneous abortions and the live-birth delivery rate per patient was 47% Limitations, reasons for caution This study suffers from the weakness related to retrospectivity. In addition, as euploid embryos are still cryopreserved, the delivery rate could change at completion of the cycles Wider implications of the findings: A RIF condition can be attributed, at least in a good proportion of cases, to the generation of high percentages of aneuploid embryos. In this case, the transfer of euploid blastocysts has high chances to classify this category of RIF patients has having an embryonic cause of infertilit. Trial registration number Not applicable

scholarly journals Prevalence of Chromosomal Abnormalities in Infertile Couples in Romania

2015 ◽  
Vol 18 (1) ◽  
pp. 23-30 ◽  
Author(s):  
Dana Mierla ◽  
M. Malageanu ◽  
R. Tulin ◽  
D. Albu
Keyword(s):  
Retrospective Study ◽  
Chromosomal Abnormalities ◽  
Normal Karyotype ◽  
Control Group ◽  
Chromosomal Anomalies ◽  
Exact Test ◽  
Infertile Women ◽  
Infertile Men ◽  
Significant Statistical Association

AbstractThe purpose of this study was to establish a correlation between the presence of chromosomal abnormalities in one of the partners and infertility. This retrospective study was performed at the Department of Reproductive Medicine, Life Memorial Hospital, Bucharest, Romania, between August 2007 to December 2011. Two thousand, one hundred and ninety-five patients with reproductive problems were investigated, and the frequency of chromosomal abnormalities was calculated. The control group consisting of 87 fertile persons who had two or more children, was investigated in this retrospective study. All the patients of this study were investigated by cytogenetic techniques and the results of the two groups were compared by a two-tailed Fisher’s exact test. In this study, 94.99% patients had a normal karyotype and 5.01% had chromosomal abnormalities (numerical and structural chromosomal abnormalities). In the study group, numerical chromosomal abnormalities were detected in 1.14% of infertile men and 0.62% of infertile women, and structural chromosomal abnormalities were detected in 1.38% of infertile men and 1.87% of infertile women, respectively. The correlation between the incidence of chromosomal anomalies in the two sexes in couple with reproductive problems was not statistically significant. Recently, a possible association between infertility and chromosomal abnormalities with a significant statistical association has been reported. Our study shows that there is no association between chromosomal abnormalities and infertility, but this study needs to be confirmed with further investigations and a larger control group to establish the role of chromosomal abnormalities in the etiology of infertility.

scholarly journals Should MTHFR 1298 A>C be tested together with MTHFR 677 C>T polymorphism in women with reproductive challenges?

Genetika ◽  
2017 ◽  
Vol 49 (2) ◽  
pp. 377-386
Author(s):  
Jelena Djurovic ◽  
Oliver Stojkovic ◽  
Jelena Todorovic ◽  
Kristina Savic ◽  
Gorana Stamenkovic
Keyword(s):  
Genomic Dna ◽  
Methylenetetrahydrofolate Reductase ◽  
Critical Role ◽  
Mthfr Gene ◽  
Elevated Risk ◽  
Similar Frequency ◽  
Mthfr Polymorphisms ◽  
Healthy Female ◽  
Healthy Control ◽  
Associated Conditions

Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in the folate metabolism. The polymorphism 677C>T of the MTHFR gene, producing thermolabile enzyme with decreased function, is widely studied and associated with many conditions. Additionally, it has been shown that another polymorphism, 1298A>C, also reduces the activity of this enzyme, although to a lesser extent. The aim of this study is to evaluate the clinical informativeness of testing both MTHFR polymorphisms. Genomic DNA, were extracted from peripheral blood of 180 female patients with pregnancy complications and 183 healthy female controls, and genotyped for MTHFR 677C>T and 1298A>C loci, using TaqMan assays. Our study found similar frequency of alleles and genotypes between two groups. Based on MTHFR 677C>T genotype, 11.7% of patients homozygous for this mutation were under the possible risk. When the position 1298 was included in the testing, 22.8% of the patients were heterozygous for both polymorphisms. Additionally, 8.9% of the patients were homozygous only for the MTHFR 1298 mutation. Although,s there was no differences compared to healthy control (p>0.05), 43% of patients were found to have elevated risk which is about four time highers than results with only MTHFR 677C>T genotyping. After obtaining information for the 677 position, testing for the second polymorphism (1298A>C) should be considered, since we have shown that it dramatically increases the rate of detection of patients who are potentially at risk for MTHFR associated conditions.

scholarly journals Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Veronica Ortega ◽  
Christina Mendiola ◽  
Eric Williamson ◽  
Kenneth Higby ◽  
Gopalrao V. N. Velagaleti
Keyword(s):  
Los Angeles ◽  
Amniotic Fluid ◽  
Cell Lines ◽  
Middle Eastern ◽  
Factor V Leiden ◽  
Normal Karyotype ◽  
Chromosome Analysis ◽  
Factor V ◽  
Fetal Ultrasound ◽  
Hbq India

We present a case of fetoplacental discrepancy in a second-trimester fetus with normal karyotype in amniotic fluid and two different Robertsonian translocations in placenta. A 41-year-old woman of Middle-Eastern origin, gravida 2, para 1, underwent amniocentesis at 16-week gestation because of advanced maternal age. Amniotic fluid karyotype showed a normal 46,XX karyotype with a homozygous inv(9). Parental chromosome analysis showed both parents to be carriers of inv(9) and the parents are not consanguineous. Fetal ultrasound was normal. The mother presented to the clinic 4 weeks later with intrauterine fetal demise. Chromosome analysis from the placenta showed two different cell lines: a balanced (15;21) Roberstonian translocation in 11 cells and an unbalanced (21;21) Robertsonian translocation in 9 cells. The karyotype was interpreted as mos 45,XX,inv(9)(p11q13)x2,der(15;21)(q10;q10)[11]/46,XX,inv(9)(p11q13)x2,+21,der(21;21)(q10;q10). Mother was a carrier for the Cystic Fibrosis (delta F508), Factor V Leiden mutations, HbD-Los Angeles and HbQ-India variants. She also had a sibling with term stillbirth. Her husband’s history was unremarkable. Our case appears to be another example of confined placental mosaicism (CPM) with normal fetal karyotype. However, we could not confirm the possibility that CPM contributed to the IUFD in our case given the complex medical history of the mother.

scholarly journals A template method for decomposing flow cytometry histograms of human chromosomes.

1979 ◽  
Vol 27 (1) ◽  
pp. 305-310 ◽  
Author(s):  
D H Moore
Keyword(s):  
Flow Cytometry ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Simulated Data ◽  
Normal Karyotype ◽  
Template Method ◽  
Normal Person ◽  
Human Chromosomes ◽  
Metaphase Chromosomes ◽  
Flow Measurements

A new method for decomposing flow cytometry histograms of isolated human metaphase chromosomes is described and tested. The method is based on fitting a template, composed of the means of all chromosomes of a normal karyotype to the flow histogram. The utility of the method is demonstrated by application to flow measurements of chromosomes from a normal person and comparing the results with those obtained by conventional cytophotometry. The power of the method for detecting gross chromosomal abnormalities, such as trisomy 21, as well as more subtle variations such as a single translocation, is determined for simulated data.

PROGNOSIS IN NEWBORN INFANTS WITH X-CHROMOSOMAL ABNORMALITIES

PEDIATRICS ◽  
1971 ◽  
Vol 47 (4) ◽  
pp. 681-688
Author(s):  
Eleanor Eller ◽  
William Frankenburg ◽  
Mary Puck ◽  
Arthur Robinson
Keyword(s):  
Home Environment ◽  
Chromosomal Abnormalities ◽  
Newborn Infants ◽  
Evaluation Process ◽  
Chromosome Analysis ◽  
Pedigree Analysis ◽  
High Risk Group ◽  
The Past ◽  
Normal Limits ◽  
Growth Abnormalities

Sex-chromosomal aberrations occur with a relatively high frequency and have been associated with mental retardation, perceptual problems, psychopathology, and growth abnormalities. Identification of this possibly high risk group at birth enables the study of their growth and development to determine if and when they deviate from normal. Routine screening of the chromatin constitution of 21,214 consecutive newborn infants has identified 32 babies with gross X chromosome abnormalities. Three died in the newborn period. During the past 5 years, 27 children have been followed from birth. The evaluation process consists of semiannual and annual physical and developmental examinations, psychological testing, growth measurements, pedigree analysis, dermatoglyphic analysis, home environment evaluation, and, in mosaics, repeated chromosome analysis. The patients with 45,X karyotypes have classical physical signs. The other patients have normal phenotypes, although several have minor physical manifestations such as clinodactyly and epicanthic folds. Overall development in all except two patients has been within normal limits. In mosaics, there is a tendency for the abnormal cell line to disappear.

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