scholarly journals A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS)

PRILOZI ◽  
2018 ◽  
Vol 39 (2-3) ◽  
pp. 131-135
Author(s):  
Aleksandra Janchevska ◽  
Velibor Tasic ◽  
Nevenka Laban ◽  
Momir Polenakovic ◽  
Zoran Gucev ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Molecular Genetic ◽  
Methylation Pattern ◽  
Molecular Genetic Analysis ◽  
Differentially Methylated Region ◽  
Embryonal Tumors ◽  
Left And Right ◽  
Imprinting Control Region ◽  
Chromosome 11P15.5

Abstract Objectives: Molecular characterization of a patient with BWS. Clinical presentation and intervention: A 4-year-old boy with overgrowth (weight above 99th and height at 99th percentile) had longitudinal hemihypertrophy of the tongue and left cheek. In addition, there was a difference of one centimeter in the circumference of the left and right leg. Molecular genetic analysis revealed hypomethylation of KvDRM1 (LIT1) in the imprinting control region-2 (ICR2) on chromosome 11p15.5 and a normal methylation pattern of the H19-differentially methylated region (H19-DMR) in the ICR1. The estimated tumor risk was 1-5%. Conclusion: This patient with clinical characteristics of BWS has an imprinting defect associated with a low risk of embryonal tumors.

scholarly journals Molecular genetic analysis of left–right handedness in plants

2002 ◽  
Vol 357 (1422) ◽  
pp. 799-808 ◽  
Author(s):  
Takashi Hashimoto
Keyword(s):  
Arabidopsis Thaliana ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Cortical Microtubule ◽  
Molecular Genetic Analysis ◽  
Left Handed ◽  
Helical Growth ◽  
Molecular Components ◽  
Axial Organs

Handedness in plant growth may be most familiar to us when we think of tendrils or twining plants, which generally form consistent right– or left–handed helices as they climb. The petals of several species are sometimes arranged like fan blades that twist in the same direction. Another less conspicuous example is ‘circumnutation’, the oscillating growth of axial organs, which alternates between a clockwise and an anti–clockwise direction. To unravel molecular components and cellular determinants of handedness, we screened Arabidopsis thaliana seedlings for helical growth mutants with fixed handedness. Recessive spiral1 and spiral2 mutants show right–handed helical growth in roots, hypocotyls, petioles and petals; semi–dominant lefty1 and lefty2 mutants show opposite left–handed growth in these organs. lefty mutations are epistatic to spiral mutations. Arabidopsis helical growth mutants with fixed handedness may be impaired in certain aspects of cortical microtubule functions, and characterization of the mutated genes should lead us to a better understanding of how microtubules function in left–right handedness in plants.

The Ikaros gene, a central regulator of lymphoid differentiation, fuses to the BCL6 gene as a result of t(3;7)(q27;p12) translocation in a patient with diffuse large B-cell lymphoma

Blood ◽  
2000 ◽  
Vol 95 (8) ◽  
pp. 2719-2721 ◽  
Author(s):  
Yoshitaka Hosokawa ◽  
Yumiko Maeda ◽  
Ryo Ichinohasama ◽  
Ikuo Miura ◽  
Masafumi Taniwaki ◽  
...  
Keyword(s):  
B Cell ◽  
Molecular Genetic ◽  
Regulatory Region ◽  
B Cell Lymphoma ◽  
Molecular Genetic Analysis ◽  
B Cell Differentiation ◽  
Polymerase Chain ◽  
Large B Cell

The BCL6 gene, isolated from the breakpoints of 3q27-associated chromosomal translocations, has been implicated in diffuse large B-cell lymphomas (DLBL). Here we describe the molecular characterization of novel t(3;7)(q27;p12) translocations in 2 patients with DLBL. Molecular genetic analysis of the breakpoint area involving BCL6 revealed the presence of the Ikaros gene, a central regulator of lymphoid differentiation that had been mapped to human chromosome 7 band p13-p11.1. As a molecular consequence of the translocation, the 5′ regulatory region of the BCL6 gene was replaced by the putative 5′ regulatory region of theIkaros gene, probably leading to deregulated expression of theBCL6 gene throughout B-cell differentiation. Reverse transcription-polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) analyses of a patient sample established that the t(3;7)(q27;p12) results in fusion of the Ikaros andBCL6 genes. This study provides the first evidence that the Ikaros gene is rearranged in human hematopoietic malignant disorders.

Characterization of plasminogen variants in healthy subjects and plasminogen mutants in patients with inherited plasminogen deficiency by isoelectric focusing gel electrophoresis

2004 ◽  
Vol 92 (08) ◽  
pp. 352-357 ◽  
Author(s):  
Katrin Tefs ◽  
Maria Georgieva ◽  
Stefan Seregard ◽  
Campbell Tait ◽  
Lori Luchtman-Jones ◽  
...  
Keyword(s):  
Isoelectric Focusing ◽  
Gel Electrophoresis ◽  
Healthy Subjects ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous ◽  
Wild Type ◽  
Ligneous Conjunctivitis

SummaryPlasmin(ogen) plays an important role in fibrinolysis and wound healing. Severe hypoplasminogenemia has recently been linked to ligneous conjunctivitis. Plasminogen (plg) is known as a polymorphic protein and most of these variants have been identified using isoelectric focusing (IEF) gel electrophoresis. Here, we studied common plg variants from healthy subjects and plg mutants from three patients with hypoplasminogenemia and three subjects with dysplasminogenemia by molecular genetic analysis and IEF. Analysis of 24 healthy subjects showed that subjects with the most common IEF plg phenotype A (n = 12) were homozygous for aspartate at position 453 (453D), while both subjects with IEF plg phenotype B were homozygous for asparagine at this position (453N). Subjects with IEF plg phenotype AB (n = 10) were compound-heterozygous for 453D/453N. Three patients with severe hypoplasminogenemia and different plg gene mutations exhibited characteristic “abnormal” IEF band patterns when compared with IEF plg phenotypes A and B. In all heterozygous family members the observed IEF plg phenotype was derived from the wild type plg molecule only, probably due to low concentration of the mutant plg molecule in plasma. In contrast, in three unrelated subjects with heterozygous dysplasminogenemia an equal “mixture” of wild type and mutant plg was found by IEF analysis. In conclusion, plg phenotyping by IEF in combination with molecular analysis of the plg gene seems to be a useful method for characterization of plg variants and mutants.

Molecular genetic analysis of myoC, a Dictyostelium myosin I

1995 ◽  
Vol 108 (3) ◽  
pp. 1093-1103 ◽  
Author(s):  
M.D. Peterson ◽  
K.D. Novak ◽  
M.C. Reedy ◽  
J.I. Ruman ◽  
M.A. Titus
Keyword(s):  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Ultrastructural Organization ◽  
Apparent Lack ◽  
Myosin I ◽  
Family Analysis ◽  
Mutant Cells ◽  
Single Knockout

The protozoan myosin Is are widely expressed actin-based motors, yet their in vivo roles remain poorly understood. Molecular genetic studies have been carried out to determine their in vivo function in the simple eukaryote Dictyostelium, an organism that contains a family of four myosin Is. Here we report the characterization of myoC, a gene that encodes a fifth member of this family. Analysis of the deduced amino acid sequence reveals that the myoC gene encodes a myosin that is homologous to the well-described Acanthamoeba myosin Is as well as to Dictyostelium myoB and -D. The expression pattern of the myoC mRNA is similar to that of myoB and myoD, with a peak of expression at times of maximal cell migration, around 6 hours development. Deletion of the myoB gene has been previously shown to result in mutant cells that are defective in pseudopod extension and phagocytosis. However, no obvious differences in cell growth, development, phagocytosis or motility were detected in cells in which the myoC gene had been disrupted by homologous recombination. F-actin localization and ultrastructural organization also appeared unperturbed in myoC- cells. This apparent ‘lack’ of phenotype in a myosin I single knockout cannot be simply explained by redundancy of function. Our results rather suggest that the present means of assessing myosin I function in vivo are insufficient to identify the unique roles of these actin-based motors.

scholarly journals Molecular-genetic characterization of the human non-hypervariable GC-rich minisatellite UPS29 of gene CENTB5

2007 ◽  
Vol 5 (3) ◽  
pp. 35-45 ◽  
Author(s):  
Irina O Suchkova ◽  
Daria M Shubina ◽  
Ludmila K Sasina ◽  
Natalia O Slominska ◽  
Vadim B Vasilyev ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
In Silico ◽  
Genetic Characterization ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
First Time ◽  
Molecular Genetic Characterization

Human minisatellite UPS29 localized in one of CENTB5 introns was studied in silico and using molecular genetic analysis. For the first time there were revealed seven UPS29 alleles which contained 6-24 repeated units. Allele consisting of 17 repeats was prevailed (91,5 %). Frequency of other alleles varied from 0,29 % to 4,39 %. UPS29 heterozygosity was 12,3 %. Minisatellite UPS29 was classified as low polymorphic and non hypervariable.

Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene

2018 ◽  
Vol 31 (7) ◽  
pp. 781-788 ◽  
Author(s):  
Yu Ding ◽  
Niu Li ◽  
Gouying Chang ◽  
Juan Li ◽  
Ruen Yao ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Chinese Han ◽  
Targeted Gene Sequencing ◽  
Molecular Genetic Characterization

Abstract Background The phosphoglucomutase 1 (PGM1) enzyme plays a central role in glucose homeostasis by catalyzing the inter-conversion of glucose 1-phosphate and glucose 6-phosphate. Recently, PGM1 deficiency has been recognized as a cause of the congenital disorders of glycosylation (CDGs). Methods Two Chinese Han pediatric patients with recurrent hypoglycemia, hepatopathy and growth retardation are described in this study. Targeted gene sequencing (TGS) was performed to screen for causal genetic variants in the genome of the patients and their parents to determine the genetic basis of the phenotype. Results DNA sequencing identified three variations of the PGM1 gene (NM_002633.2). Patient 1 had a novel homozygous mutation (c.119delT, p.Ile40Thrfs*28). In patient 2, we found a compound heterozygous mutation of c.1172G>T(p.Gly391Val) (novel) and c.1507C>T(p.Arg503*) (known pathogenic). Conclusions This report deepens our understanding of the clinical features of PGM1 mutation. The early molecular genetic analysis and multisystem assessment were here found to be essential to the diagnosis of PGM1-CDG and the provision of timely and proper treatment.

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