scholarly journals A Para-Bombay Blood Group Case Associated with a Novel FUT1 Mutation c.361G>A

2021 ◽  
pp. 1-5
Author(s):  
Hang Lei ◽  
Yuqing Shen ◽  
Yuqing Wang ◽  
Naizhu Su ◽  
Xuefeng Wang ◽  
...  
Keyword(s):  
Blood Group ◽  
Novel Mutation ◽  
Three Dimensional ◽  
In Silico Analysis ◽  
The Novel ◽  
Hemagglutination Inhibition Test ◽  
Loop Region ◽  
Blood Group Typing ◽  
Abo Genotype ◽  
Blood Group Substances

<b><i>Background:</i></b> Here we report a case of para-Bombay phenotype due to a novel mutation <i>FUT1</i> c.361G&#x3e;A p.(Ala121Thr) and a nonfunctional allele <i>FUT1</i>*<i>01N.13</i>(c.881_882delTT) which showed a discrepancy in the routine ABO blood group typing. <b><i>Materials and Methods:</i></b> The ABO phenotype and the Lewis blood group were typed with serological methods. The ABH antigens in saliva were determined by a hemagglutination inhibition test. The CDS region of <i>ABO, FUT1</i>and <i>FUT2</i> were amplified with polymerase chain reaction and then directly sequenced. The novel mutation was confirmed by cloning and sequencing. Three-dimensional (3-D) structural analysis of the mutant and wild-type Fut1 were performed by the Chimera software. <b><i>Results:</i></b> A, B and H antigens were not detected on the surface of red blood cells (RBCs) by the serological technique, and the B and H blood group substances were detected in the saliva, while the Lewis phenotype was Le(a–b+). Sequencing and cloning analysis showed the presence of a novel <i>FUT1</i> mutation c.361G&#x3e;A and a nonfunctional allele <i>FUT1</i>*<i>01N.13</i>(c.881_882delTT). The ABO genotype was <i>ABO</i>*<i>B.01/ABO</i>*<i>O.01.01</i>. The in silico analysis showed that the mutation p.(Ala121Thr) of <i>FUT1</i>did not change the 3-D structure of the whole enzyme but caused a certain amplitude of turnover in the loop region where Ala121 was located. <b><i>Conclusions:</i></b> A novel <i>FUT1</i> allele (<i>FUT1</i>*c.361G&#x3e;A) was identified in a Chinese individual with para-Bombay B phenotype. The <i>FUT1</i>c.361G&#x3e;A mutation may significantly downregulate the expression of H antigens on RBCs by damaging the enzyme conformation.

Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases

2017 ◽  
Vol 30 (7) ◽  
Author(s):  
Kleopatra H. Schulpis ◽  
Georgia Thodi ◽  
Konstantinos Iakovou ◽  
Maria Chatzidaki ◽  
Yannis Dotsikas ◽  
...  
Keyword(s):  
Clinical Evaluation ◽  
Mutational Analysis ◽  
Screening Program ◽  
Novel Mutation ◽  
In Silico Analysis ◽  
Speech Development ◽  
The Novel ◽  
Speech Delay ◽  
First Time ◽  
Silico Analysis

AbstractBackground:Deficiencies of galactokinase (GALK) and UDP-epimerase (GALE) are implicated with galactose metabolic disorders. The aim of the study was the identification of mutations inMethods:Five patients with GALK and five with GALE deficiency were picked up via the Neonatal Screening Program. Additionally, two females, 4 years old, were referred with late diagnosed galactosemia, as rare cases. Mutational analysis was conducted via Sanger sequencing, while in silico analysis tools were utilized for the novel mutation. Psychomotor and speech development tests were performed, as well.Results:The mutation p.Pro28Thr was identified in both alleles in GALK-deficient patients of Roma (gypsy) origin, whereas the novel p.Asn39Ser was detected in two non-Roma patients. In GALE-deficient patients benign and/or likely benign mutations were found. Psychomotor and speech delay were determined in the Roma GALK patients. In each of the late diagnosed females, four mutations were identified in all galactosemia-related genes.Conclusions:The mutational spectrums of GALE- and GALK-deficient patients in Greece are presented for the first time along with a clinical evaluation. Mutational analysis in all galactosemia-related genes of symptomatic patients is highly recommended for future cases.

scholarly journals Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation

2020 ◽  
Author(s):  
Jianbo Wang ◽  
Weisheng Li ◽  
Naihui Zhou ◽  
Jingliu Liu ◽  
Shoumin Zhang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Protein Structures ◽  
Three Dimensional ◽  
Chinese Family ◽  
The Novel ◽  
Exon 2 ◽  
Coding Regions ◽  
Pathogenicity Prediction ◽  
Café Au Lait Spots ◽  
Genetics And Genomics

Abstract Background: Familial progressive hyper- and hypopigmentation (FPHH, MIM 145250) is a rare hereditary skin disorder that is predominantly characterized by progressive, diffuse, partly blotchy hyperpigmented lesions intermingled with scattered hypopigmented spots, lentigines and sometimes Cafe-au-lait spots (CALs). Heterozygous mutations of KIT ligand (KITLG, MIM 184745) gene is responsible for FPHH. To date, only eight KITLG mutations were reported to be associated with FPHH and no clear genotype-phenotype correlations had been well established. This study aimed to identify the causative mutations of the KITLG gene in two Chinese FPHH cases.Methods: Directly sequencing of the coding regions of KITLG was performed. The pathogenicity prediction was assessed using bioinformatics tools including SIFT, Polyphen2, and SWISS-MODEL, and further evaluated following the American College of Medical Genetics and Genomics (ACMG) guideline 2015.Results: A novel mutation c.104A>T (p.Asn35Ile) and a recurrent mutation c.101C>T (p.Thr34Ile) in KITLG were identified. As SIFT and Polyphen-2 softwares showed, both mutations identified in this study were predicted to be detrimental variations. Three-dimensional protein structures modeling indicated the mutant KITLG proteins might affect KITLG affinity to its receptor c-KIT. According to the ACMG guideline 2015, the novel mutation c.104A>T was ‘Likely Pathogenic’.Conclusions: So far, most of the KITLG mutations are clustered within the conserved VTNNV motif (amino acid 33-37) in exon 2. The known mutations are only involved in 33V, 34T, 36N, 37V but not 35N. We have now identified a novel mutation c.104A>T of KITLG, which was first reported in FPHH located within the conserved 35N of the motif. These results strengthen our understanding of FPHH and expand the mutational spectrum of the KITLG gene.

scholarly journals Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation

2020 ◽  
Author(s):  
Jianbo Wang ◽  
Weisheng Li ◽  
Naihui Zhou ◽  
Jingliu Liu ◽  
Shoumin Zhang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Direct Sequencing ◽  
Three Dimensional ◽  
Chinese Family ◽  
The Novel ◽  
Exon 2 ◽  
Coding Regions ◽  
Pathogenicity Prediction ◽  
Café Au Lait Spots ◽  
Genetics And Genomics

Abstract Background: Familial progressive hyper- and hypopigmentation (FPHH, MIM 145250) is a rare hereditary skin disorder that is predominantly characterized by progressive, diffuse, partly blotchy hyperpigmented lesions intermingled with scattered hypopigmented spots, lentigines and sometimes Cafe-au-lait spots (CALs). Heterozygous mutations of the KIT ligand (KITLG, MIM 184745) gene are responsible for FPHH. To date, only eight KITLG mutations have been reported to be associated with FPHH, and no clear genotype-phenotype correlations have been established. This study aimed to identify the causative mutations in the KITLG gene in two Chinese FPHH patients.Methods: Direct sequencing of the coding regions of KITLG was performed. Pathogenicity prediction was performed using bioinformatics tools, including SIFT, Polyphen2, and SWISS-MODEL, and the results were further evaluated according to the 2015 American College of Medical Genetics and Genomics (ACMG) guidelines.Results: The novel mutation c.104A>T (p.Asn35Ile) and the recurrent mutation c.101C>T (p.Thr34Ile) in KITLG were identified. As shown using SIFT and Polyphen-2 software, both mutations identified in this study were predicted to be detrimental variations. Three-dimensional protein structure modeling indicated that the mutant KITLG proteins might affect the affinity of KITLG for its receptor, c-KIT. According to the 2015 ACMG guidelines, the novel mutation c.104A>T was ‘likely pathogenic’.Conclusions: To date, most of the identified KITLG mutations have been clustered within the conserved VTNNV motif (amino acids 33-37) in exon 2. The known mutations are only involved in 33V, 34T, 36N, and 37V but not 35N. We have now identified a novel mutation in KITLG, c.104A>T, that was first reported in FPHH within the conserved 35N motif. These results strengthen our understanding of FPHH and expand the mutational spectrum of the KITLG gene.

scholarly journals Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Jianbo Wang ◽  
Weisheng Li ◽  
Naihui Zhou ◽  
Jingliu Liu ◽  
Shoumin Zhang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Direct Sequencing ◽  
Three Dimensional ◽  
Chinese Family ◽  
The Novel ◽  
Exon 2 ◽  
Coding Regions ◽  
Pathogenicity Prediction ◽  
Café Au Lait Spots ◽  
Genetics And Genomics

Abstract Background Familial progressive hyper- and hypopigmentation (FPHH, MIM 145250) is a rare hereditary skin disorder that is predominantly characterized by progressive, diffuse, partly blotchy hyperpigmented lesions intermingled with scattered hypopigmented spots, lentigines and sometimes Cafe-au-lait spots (CALs). Heterozygous mutations of the KIT ligand (KITLG, MIM 184745) gene are responsible for FPHH. To date, only eight KITLG mutations have been reported to be associated with FPHH, and no clear genotype–phenotype correlations have been established. This study aimed to identify the causative mutations in the KITLG gene in two Chinese FPHH patients. Methods Direct sequencing of the coding regions of KITLG was performed. Pathogenicity prediction was performed using bioinformatics tools, including SIFT, Polyphen2, and SWISS-MODEL, and the results were further evaluated according to the 2015 American College of Medical Genetics and Genomics (ACMG) guidelines. Results The novel mutation c.104A > T (p.Asn35Ile) and the recurrent mutation c.101C > T (p.Thr34Ile) in KITLG were identified. As shown using SIFT and Polyphen-2 software, both mutations identified in this study were predicted to be detrimental variations. Three-dimensional protein structure modeling indicated that the mutant KITLG proteins might affect the affinity of KITLG for its receptor, c-KIT. According to the 2015 ACMG guidelines, the novel mutation c.104A > T was ‘likely pathogenic’. Conclusions To date, most of the identified KITLG mutations have been clustered within the conserved VTNNV motif (amino acids 33–37) in exon 2. The known mutations are only involved in 33 V, 34 T, 36 N, and 37 V but not 35 N. We have now identified a novel mutation in KITLG, c.104A > T, that was first reported in FPHH within the conserved 35 N motif. These results strengthen our understanding of FPHH and expand the mutational spectrum of the KITLG gene.

scholarly journals THE ROLE OF ABO BLOOD GROUP TYPING IN RISK STRATIFYING PATIENTS WITH THE NOVEL CORONAVIRUS 2019-NCOV

2021 ◽  
Vol 77 (18) ◽  
pp. 3152
Author(s):  
Husam Shadid ◽  
Michael Pan ◽  
Elizabeth Anderson ◽  
Tariq Azam ◽  
Hanna Berlin ◽  
...  
Keyword(s):  
Blood Group ◽  
Abo Blood Group ◽  
The Novel ◽  
Blood Group Typing ◽  
Novel Coronavirus

scholarly journals Fine-tuning the performance of ddRAD-seq in the peach genome

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Maximiliano Martín Aballay ◽  
Natalia Cristina Aguirre ◽  
Carla Valeria Filippi ◽  
Gabriel Hugo Valentini ◽  
Gerardo Sánchez
Keyword(s):  
Germplasm Collection ◽  
In Silico Analysis ◽  
Genotyping By Sequencing ◽  
Fine Tuning ◽  
The Novel ◽  
Peach Genome ◽  
Genome Complexity ◽  
Next Generation Sequencing Ngs ◽  
Sample Set ◽  
Silico Analysis

AbstractThe advance of Next Generation Sequencing (NGS) technologies allows high-throughput genotyping at a reasonable cost, although, in the case of peach, this technology has been scarcely developed. To date, only a standard Genotyping by Sequencing approach (GBS), based on a single restriction with ApeKI to reduce genome complexity, has been applied in peach. In this work, we assessed the performance of the double-digest RADseq approach (ddRADseq), by testing 6 double restrictions with the restriction profile generated with ApeKI. The enzyme pair PstI/MboI retained the highest number of loci in concordance with the in silico analysis. Under this condition, the analysis of a diverse germplasm collection (191 peach genotypes) yielded 200,759,000 paired-end (2 × 250 bp) reads that allowed the identification of 113,411 SNP, 13,661 InDel and 2133 SSR. We take advantage of a wide sample set to describe technical scope of the platform. The novel platform presented here represents a useful tool for genomic-based breeding for peach.

scholarly journals Topological correlators and surface defects from equivariant cohomology

2020 ◽  
Vol 2020 (9) ◽  
Author(s):  
Rodolfo Panerai ◽  
Antonio Pittelli ◽  
Konstantina Polydorou
Keyword(s):  
Quantum Mechanics ◽  
Equivariant Cohomology ◽  
Surface Defects ◽  
Star Product ◽  
Three Dimensional ◽  
Three Dimensions ◽  
Dimensional System ◽  
The Novel ◽  
One Dimensional ◽  
Dual Quantum

Abstract We find a one-dimensional protected subsector of $$ \mathcal{N} $$ N = 4 matter theories on a general class of three-dimensional manifolds. By means of equivariant localization we identify a dual quantum mechanics computing BPS correlators of the original model in three dimensions. Specifically, applying the Atiyah-Bott-Berline-Vergne formula to the original action demonstrates that this localizes on a one-dimensional action with support on the fixed-point submanifold of suitable isometries. We first show that our approach reproduces previous results obtained on S3. Then, we apply it to the novel case of S2× S1 and show that the theory localizes on two noninteracting quantum mechanics with disjoint support. We prove that the BPS operators of such models are naturally associated with a noncom- mutative star product, while their correlation functions are essentially topological. Finally, we couple the three-dimensional theory to general $$ \mathcal{N} $$ N = (2, 2) surface defects and extend the localization computation to capture the full partition function and BPS correlators of the mixed-dimensional system.

scholarly journals Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yu-Liang Jiang ◽  
Xiao-Dong Xu ◽  
Bai-Rong Li ◽  
En-Da Yu ◽  
Zi-Ye Zhao ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Novel Mutation ◽  
Delayed Diagnosis ◽  
Personal History ◽  
Pathological Examination ◽  
The Novel ◽  
Novel Mutations ◽  
The Family ◽  
Genetic Level ◽  
Peutz Jeghers Syndrome

Abstract Objective To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test. Clinical presentation and intervention PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Diagnosis of PJS was confirmed by endoscopy and repeated pathological examinations, and the STK11 mutation test finally confirmed the diagnosis at genetic level, during which 3 novel mutation were detected (536C > A, 373_374insA, 454_455insGGAGAAGCGTTTCCCAGTGTGCC). Conclusion Early diagnosis of PJS is important and may be based on a family history with selective features among family members, and the pathological information is the key. The novel mutations also expand the STK11 variant spectrum.

Biomimetic ABO Blood-Group Typing

2006 ◽  
Vol 45 (16) ◽  
pp. 2626-2629 ◽  
Author(s):  
Oliver Hayden ◽  
Karl-J. Mann ◽  
Stefan Krassnig ◽  
Franz L. Dickert
Keyword(s):  
Blood Group ◽  
Abo Blood Group ◽  
Blood Group Typing
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