[Genetic prognosis of translocations 14-21 in the framework of prenatal diagnosis].
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Chromosome Aberrations↗
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Results for “Translocation, Genetic”
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[Molecular-genetic evaluation of translocation of bcl-2 gene and locus bcl-1 in selected lymphoproliferative changes].
In the work it has been decided to evaluate the occurrence of locus bcl-1 rearrangement in type B chronic lymphatic leukemia and that of gene bcl-2 in non-Hodgkin's lymphoma with diffuse morphology, as well as in reactive lymph nodes. The study material comprised DNA isolated from fragments of lymph nodes sent for routine diagnostic examinations at the Institute of Pathology--Pomeranian Medical Academy. Southern's method was used to examine DNA having been cut with restrictive enzymes, estimating the distribution of gene bcl-2 and locus bcl-1. Resorting to Polymerase Chain Reaction (PCR) translocation t (14;18) was assessed by means of short nucleotides hybridizing with 14 and 18 chromosome sequences restricting this translocation. The amplification product was subsequently studied by Southern's method with probe bcl-2. In 1 out of 18 examined cases of type B chronic lymphocyte leukemia it was disclosed that locus bcl-1 had been rearranged. In 45 cases of non-Hodgkin's lymphoma with diffuse morphology the gen bcl-2 was found to display germline arrangement. Germline position of gen bcl-2 was also revealed in 60 cases of reactive lymph nodes.
Blotting, Southern↗
[Unsuccessful pregnancies in a genetic carrier of translocation 46,XX,t(4;5)(p11;q14)].
Authors presents 36-year old female patient with three spontaneous abortions as a result of carrier state of balanced reciprocal translocation. This chromosome anomalies has been classified like the translocations with the double risk of unbalanced fetal karyotype++. The zygote can be normal, trisomic for part of a chromosome or monosomic for part of a chromosome.
Abortion, Habitual↗
Corosolic acid induces GLUT4 translocation in genetically type 2 diabetic mice.
The effect of corosolic acid (CA) on blood glucose was studied in KK-Ay mice, an animal model of type 2 diabetes. CA (10 mg/kg) reduced the blood glucose (p<0.05) of KK-Ay mice 4 h after single oral administration when compared with the control group. However, CA did not change the plasma insulin. The muscle facilitative glucose transporter isoform 4 (GLUT4) translocation from low-density microsomal membrane to plasma membrane was significantly increased in the orally CA-treated mice when compared with that of the controls (p<0.05). These results suggest that the hypoglycemic effect of CA is derived, at least in part, from an increase in GLUT4 translocation in muscle. Therefore, it may be that CA has beneficial effects on hyperglycemia in type 2 diabetes.
Animals↗
A genetic sexing strain of Anopheles quadrimaculatus, species A.
A genetic sexing strain of a mosquito, Anopheles quadrimaculatus, Species A, was synthesized for the preferential elimination of females during the egg stage. Malathion susceptibility was used as a conditional lethal, and the dominant malathion-resistance allele was linked to the Y chromosome via a radiation-induced reciprocal translocation involving the terminal end of the right arm of chromosome 3 and the Y chromosome. Examination of mitotic chromosomes and salivary polytene chromosomes revealed the precise nature of the translocation. Genetic leakage, through recombination, in the strain was very low (0.02%).
Animals↗
Selection of the nuclear gene for the mitochondrial adenine nucleotide translocator by genetic complementation of the op1 mutation in yeast.
Oxidative phosphorylation 1 (OP1), a nuclear gene of yeast Saccharomyces cerevisiae which is required for the expression of a functional mitochondria, has been isolated on a recombinant plasmid. The gene was selected from a recombinant plasmid pool which contained wild type yeast genomic DNA by transformation of the yeast nuclear mutant (op1) followed by a two-stage screening procedure. A recombinant plasmid containing a 2.6 kilobase Bam HI fragment of genomic yeast DNA inserted in either orientation into the single Bam HI site of yeast vector YEp 13 could complement the op1 mutation. Analysis of the gene product of this inserted DNA by three independent methods, 1) in vivo expression in Escherichia coli maxicells, 2) cell-free translation of plasmid selected RNA, and 3) expression analysis in yeast, revealed that its gene product is a protein of Mr = 30,000-32,000, which cross-reacts with specific anti-serum to the adenine nucleotide translocator of the mitochondrial inner membrane. The selection procedure is efficient and can be used for the isolation of any defined yeast nuclear gene which participates in mitochondrial development.
Cell Nucleus↗
B-cell abnormalities in multiple sclerosis. A hypothesis.
Quantitative and qualitative (oligoclonal band) immunoglobulin abnormalities are one of the hallmarks of multiple sclerosis. The usual explanations offered for these abnormalities include persistent antigenic stimulation, "nonsense" antibody, immunodysregulation, and nonspecific polyclonal stimulation. We propose that an intrinsic B-cell abnormality leads to the immunoglobulin disturbances--perhaps in association with one of the aforementioned mechanisms. Genetic translocations and abnormalities in the normal B cell developmental immunoglobulin rearrangements could produce a selective advantage for certain B cells or enhance transcription causing clonal proliferation with the subsequent production of oligoclonal immunoglobulin bands. Cytogenetic and molecular hybridization studies of the B cell may help answer these issues.
B-Lymphocytes↗
The adenine nucleotide translocator in genetically and physiologically modified yeast mitochondria.
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Adenosine Diphosphate↗
Genetic analysis of field trials of sex-linked translocation strains for genetic control of the Australian sheep blowfly Lucilia cuprina (Wiedemann).
The results of progeny tests of males and females captured during two field trials of sex-linked translocation strains for genetic control of L. cuprina are presented. Males released as mature larvae survived to adulthood and mated with field females. However, the levels of genetic death introduced into the population were insufficient to suppress the native population. This was due partly to seasonal ineffectiveness of the release method, and partly to poor performance of the released males. On average, the mating competitiveness of the released males was only one-third that of field males, whereas their field-reared, translocation-bearing sons were fully competitive with native males.
Animals↗
Genetic counseling in translocations.
Advances in the treatment of male infertility-specifically intracytoplasmic sperm injection have now resulted in greater recognition of the clinical significance of genetic translocations. This article focuses on the different types of translocations (Robertsonian, reciprocal) as well as on the prevalence and incidence of translocations in infertile and other populations. The authors contrast theoretical and empiric meiotic segregation patterns in the different clinical settings of traditional prenatal genetic diagnosis and preimplantation genetic diagnosis. In particular, the significance of a higher prevalence of unbalanced blastomeres is discussed.
Female↗
Successful pregnancy after preimplantation genetic diagnosis in a female with Robertsonian translocation.
Preimplantation genetic diagnosis (PGD) is an alternative option for couples with chromosome abnormalities. A 34-year-old woman with balanced Robertsonian translocation [(45, XX, der(13; 14)(q10; q10)] requested PGD due to recurrent spontaneous abortion. Embryos of good quality were biopsied on day 3 post-oocyte retrieval. The aspirated blastomeres were fixed and analyzed using fluorescence in situ hybridization. In the first cycle, 2 unaffected embryos were transferred back without success. No unaffected embryo was available in the second cycle. On day 5 in the third cycle, 2 unaffected embryos were transferred resulting in a twin pregnancy. Amniocentesis confirmed the diagnosis. At the gestational age of 35 weeks, 2 healthy girls were born via cesarean section. Postnatal physical examination found no evidence of major abnormalities.
Abortion, Habitual↗
Outcome of preimplantation genetic diagnosis of translocations.
OBJECTIVE: To review 35 cases of preimplantation genetic diagnosis (PGD) of translocations with several methods, including telomeric probes. DESIGN: Retrospective study. SETTING: Clinical IVF laboratory. PATIENT(S): Thirty-five couples with one partner carrying a chromosomal translocation. INTERVENTION(S): PGD of translocation after polar-body or embryo biopsy. MAIN OUTCOME MEASURE(S): Pregnancy outcome. RESULT(S): Several trends were observed. First, PGD can achieve a statistically significant reduction in spontaneous abortion, from 95% to 13%. Second, the chances of achieving pregnancy are correlated with 50% or more of the embryos being chromosomally normal. Third, patients with robertsonian translocations produced fewer abnormal gametes and more pregnancies than did patients with reciprocal translocations. Fourth, a new fluorescence in situ hybridization protocol for PGD of translocations, which involves applying telomeric probes, has proved adequately reliable with a 6% average error rate. CONCLUSION(S): PGD of translocations achieves a statistically significant reduction in spontaneous abortion, both for polar-body and blastomere biopsy cases. Pregnancy outcome depended on the number of normal embryos available for transfer, with patients having <50% abnormal embryos achieving the most pregnancies. Because robertsonian translocations caused fewer abnormal embryos than reciprocal translocations, they also resulted in higher rates of implantation.
Abortion, Spontaneous↗
A genetic mechanism implicates chromosome 11 in schizophrenia and bipolar diseases.
The causes of schizophrenia and bipolar human psychiatric disorders are unknown. A novel somatic cell genetic model postulated nonrandom segregation of "Watson" vs. "Crick" DNA chains of both copies of a chromosome to specific daughter cells. Such an oriented asymmetric cell division causes development of healthy, functionally nonequivalent brain hemispheres. Genetic translocations of the chromosome may cause disease by disrupting the biased strand-segregation process. Only one-half of chromosome 1 and 11 translocation carriers developing disease were recently explained as a result consistent with the model (Klar 2002). Is chromosome 1 or 11 involved? Does the translocation breakpoint cause disease? Remarkably, two other unrelated chromosome 11 translocations discovered from the literature likewise caused disease in approximately 50% of carriers. Together, their breakpoints lie at three distinct regions spanning approximately 40% of chromosome 11. Thus, chromosome 11 is implicated but the breakpoints themselves are unlikely to cause the disease. The results suggest that the genetically caused disease develops without a Mendelian gene mutation.
Bipolar Disorder↗
Chromosomal rearrangements detected by FISH and G-banding.
Fluorescence in situ hybridization (FISH) using chromosome-specific DNA libraries as painting probes, locus-specific unique sequence (cosmid) probes, and Y-specific repetitive sequences was applied in the analysis of eighteen cases of chromosomal rearrangements of undetermined nature. FISH clarified the origin of the extra or translocated chromosome segments in seventeen patients, one with 2q+, two with 4q+, one each with 6p+, 7p+, 9q+, 10p+, 11q+ and 12p+, two with 13q+, and one each with 15q+, 17p+, 18p+, 20p+, 21p+ and Yq+, as well as the nature of a de novo supernumerary chromosome marker in a previously reported case. By G-banding and molecular cytogenetic studies of the family members, six cases were determined to have unbalanced translocations inherited from the carrier parent. The extra translocated genetic material may cause specific trisomic syndromes, including partial 6p21.3-p23, 9q32-q34.3, 13q32-q34, 15q24-q26, and 17p11.2-p13 trisomies in those patients. A translocated 21q segment on 12p was shown by a painting probe in a patient with Down features. A patient with cat cry syndrome resulting from a loss of the terminal segment of the short arm of chromosome 5 was confirmed by a cosmid probe showing de novo reciprocal translocation between chromosomes 5 and 18:t(5;18) (p13.3;p11.31). With FISH, the extra material on the rearranged chromosome could also be identified as duplicated or translocated. The FISH technique thus provides a method for the analysis of extra structurally abnormal chromosomes (especially in de novo cases), recognizable syndromes (contiguous gene syndromes) caused by translocated deletion from parental balanced chromosome rearrangements, and supernumerary marker chromosomes. FISH subsequent to G-banding is also of great help in the confirmation of preliminary abnormal G-banded karyotypes after a modified destaining procedure. In conclusion, the combination of G-banding and FISH is very useful in the accurate diagnosis of chromosomal rearrangements.
Chromosome Aberrations↗
Unique forms of the abl tyrosine kinase distinguish Ph1-positive CML from Ph1-positive ALL.
In the Philadelphia chromosome (Ph1) of chronic myelogenous leukemia (CML), the c-abl gene on chromosome 9 is translocated to bcr on chromosome 22. This results in the expression of a chimeric bcr-abl message that encodes the P210bcr-abl tyrosine kinase. The cells of 10% of acute lymphocytic leukemia patients (ALL) carry a cytogenetically similar Ph1 translocation. We report that Ph1-positive ALL cells express unique abl-derived tyrosine kinases of 185 and 180 kilodaltons that are distinct from the bcr-abl-derived P210 protein of CML. The appearance of the 185/180-kilodalton proteins correlates with the expression of a novel 6.5-kilobase messenger RNA. Thus, similar genetic translocations in two different leukemias result in the expression of distinct c-abl-derived products.
DNA, Neoplasm↗
Helicobacter pylori-negative / API2-MALT1 translocation-negative low-grade MALT lymphoma.
A 71-year-old man with a Helicobacter pylori infection-negative and API2-MALT1 translocation-negative extranodal marginal-zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT) type of the stomach has been followed conservatively for over 5 years. The lesion has shown no major morphological changes or malignant progression into a diffuse large-cell type during the time course. The absence of genetic translocation of API2-MALT1 was confirmed with fluorescence in situ hybridization (FISH). The prognosis of H. pylori-negative and API2-MALT1 translocation-negative low-grade MALT lymphoma is unknown, and a standard treatment for such lymphoma has yet to be defined. The case of MALT lymphoma negative for both of the above factors that we report has shown no obvious rapid progression or malignant change over the long-term course. Although curative operation and/or chemoradiotherapy should still be discussed as the treatment of choice, the treatment of this type of lymphoma must be carefully determined on a case-by-case basis, according to its biological status and prognosis.
Aged↗
Further observations on a 13qXp translocation associated with retinoblastoma.
In a patient with a 13qXp translocation and retinoblastoma the band associated with retinoblastoma (13q14) was clearly translocated intact to the X chromosome rather than being the breakpoint of the translocation. Genetic inactivation of the derivative X chromosome shown by late labeling and cell hybridization techniques in the predominance of cells indicated a functional monosomy for this segment as the most likely predisposing factor in producing retinoblastoma.
Chromosomes, Human, 13-15↗
Can preimplantation genetic diagnosis improve success rates in recurrent aborters with translocations?
Preimplantation genetic diagnosis (PGD) for people suffering recurrent miscarriages is increasingly being performed worldwide. However, there is limited information on whether PGD can improve success rates in translocation carriers. We therefore compared pregnancy outcomes between PGD and natural pregnancy cases, reviewing the clinical research database. No improvement in the success rate at the first oocyte retrieval was evident in reciprocal translocation carriers. In the natural course of events, patients with translocations can hope for a baby in the long term. However, with PGD, rates can reach 68% after IVF failure and the duration to eventual birth may be shorter than with natural pregnancies. In the particular case of Robertsonian translocations, PGD may not be necessary because natural success rates are relatively good.
Abortion, Habitual↗