scholarly journals RHD*Weak D Type 38: A Family Study

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 5155-5155
Author(s):  
Sidneia Sanches de Menezes Costa ◽  
Akemi Kuroda Chiba ◽  
Fabio Oliveira Martin ◽  
Dante Mario Langhi ◽  
Carlos Chiattone ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Conflicts Of Interest ◽  
Sequencing Analysis ◽  
Her Family ◽  
Serologic Tests ◽  
Three Generations ◽  
Single Nucleotide Change ◽  
Sequencing Studies ◽  
Dna Sequencing Analysis ◽  
D Antigen

Abstract Abstract 5155 Introduction: The RHD*weak D type 38 is produced by the single nucleotide change (833G>A) in RHD exon 6, carrying a Gly278Asp substitution in the transmembraneous RhD protein. This RHD allele shows a reduced expression of the D antigen on the red blood cell (RBC) surface and may be erroneously typed as D− by standard serologic methods, including the indirect antiglobulin test (IAT). The frequency of the RHD*weak D type 38 in Caucasians is reported to be 1. 5% in Ccee phenotype, while we have recently detected a relatively higher frequency of 2. 6% among Ccee phenotype in Brazil. In this study we performed a serologic and molecular analysis of three generations from a family with the rare RHD*weak D type 38. Study design and methods: The RBCs from 45 years-old woman blood donor tested D negative by routine serologic tests (Ccee phenotype) but were positive by the adsorption-elution technique. Further serologic investigation to establish the patterns of reactivity of the RBCs was preformed using anti-D Moabs IgM (clones HM10, P3X63, P3X21211F1, P3X21223B10; Diagast, Loos, France) and anti-D Moabs IgG/IAT (clones HM16, P3X35, P3X241, P3X249, P3X290; Diagast, Loos, France, and MS-26, ESD1; DiaMed, Latino América S. A.). Flow cytometric methods were employed to evaluate the D antigen densities, and molecular sequencing studies were done using a sequencing Kit (Big Dye Terminator v1. 1, applied Biosystems, Weiterstadt, Germany) and a genetic analyser (ABI 3100, Applied Biosystems, Foster City, CA, USA). Results: We found that the RBCs reacted negatively with 4/4 IgM anti-D, but showed weakly positive results with 4/7 IgG anti-D reagents. In face of such results we studied 12 members of her family and found that 6 more individuals tested D negative by standard serologic tests (Ccee phenotype) but were positive by adsorption-elution technique. The flow cytometry investigation of samples from the 7 subjects showed D antigen density in a range of 60 – 80 sites per cell and a Rhesus Index of 0. 1 – 0. 6. DNA sequencing analysis from 7 family members was performed showing that all descendants (siblings) had the same RHD*weak D type 38 genotype as the mother, also inherited by the grandson. Conclusions: The molecular analysis identified the presence of RHD*weak D type 38 in the three generations of a Brazilian family. The study revealed maternal inheritance (first generation) of the weak D type 38, with Ccee phenotype by her six children and the second generation showed paternal inheritance in a son. We also emphasize the significant prevalence of RHD*weak D type 38 in the Brazilian population, often showing a low antigen D density. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Butyrylcholinesterase (BCHE) Genotyping for Post-Succinylcholine Apnea in an Australian Population

2003 ◽  
Vol 49 (8) ◽  
pp. 1297-1308 ◽  
Author(s):  
Tina Yen ◽  
Brian N Nightingale ◽  
Jennifer C Burns ◽  
David R Sullivan ◽  
Peter M Stewart
Keyword(s):  
Dna Sequencing ◽  
Gene Mutations ◽  
University Teaching ◽  
Sequencing Analysis ◽  
Direct Dna Sequencing ◽  
Bche Activity ◽  
Mutation Screen ◽  
Sequencing Studies ◽  
Dna Sequencing Analysis ◽  
K Variant

Abstract Background: Measurement of plasma butyrylcholinesterase (BChE) activity and inhibitor-based phenotyping are standard methods for identifying patients who experience post-succinylcholine (SC) apnea attributable to inherited variants of the BChE enzyme. Our aim was to develop PCR-based assays for BCHE mutation detection and implement them for routine diagnostic use at a university teaching hospital. Methods: Between 1999 and 2002, we genotyped 65 patients referred after prolonged post-SC apnea. Five BCHE gene mutations were analyzed. Competitive oligo-priming (COP)-PCR was used for flu-1, flu-2, and K-variant and direct DNA sequencing analysis for dibucaine and sil-1 mutations. Additional DNA sequencing of BCHE coding regions was provided when the five-mutation screen was negative or mutation findings were inconsistent with enzyme activity. Results: Genotyping identified 52 patients with primary hypocholinesterasemia attributable to BCHE mutations, and in 44 individuals the abnormalities were detected by the five-mutation screen (detection rate, 85%). Additional sequencing studies revealed mutations in eight other patients, including five with novel mutations. The most common genotype abnormality was compound homozygous dibucaine and homozygous K-variant mutations. No simple homozygotes were found. Of the remaining 13 patients, 3 had normal BChE activity and gene, and 10 were diagnosed with hypocholinesterasemia unrelated to BCHE gene abnormalities. Conclusion: A five-mutation screen for investigation of post-SC apnea identified BCHE gene abnormalities for 80% of a referral population. Six new BCHE mutations were identified by sequencing studies of 16 additional patients.

scholarly journals Compound Heterozygous Nonsense Mutations Leading to Hereditary Deficiency of Coagulation Factor XI in a Chinese Pedigree

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 5032-5032
Author(s):  
Qian Li ◽  
Hui Zeng ◽  
Yong Xu ◽  
Min Zhou ◽  
Bing Chen ◽  
...  
Keyword(s):  
Conflicts Of Interest ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Coagulation Factor ◽  
Compound Heterozygous ◽  
Sequencing Analysis ◽  
Factor Xi ◽  
Nonsense Mutations ◽  
Prolonged Aptt ◽  
Dna Sequencing Analysis

Abstract The objective is to identify the gene mutations responsible for the deficiency of factor XI (FXI) in a Chinese pedigree. The FXI activity was tested with clotting assay. The F11 gene was amplified by PCR with direct sequencing. ClustalX-2.1-win and three online bioinformatics softwares were used to study the conservatism and harm of the mutation. The proband was a 70-year-old male and had a prolonged APTT of 67.8s. The corrected APTT was 28.3s and he had reduced FXI: activity of 0.8%. His son and daughter had normal APTT of 26s and 27.3s and FXI:C of 72% and 75%, respectively. DNA sequencing analysis showed the proband carried a compound heterozygous g.841C>T and g.1556G>A mutation , resulting in Ser281Stop and Trp519Stop, respectively, which caused premature termination of transcription in the F11. His son had the heterozygous g.841C>T mutation of F11 and his daughter had the heterozygous g.1556G>A mutation of F11. The three bioinformatics softwares indicated that the mutation had affected the function of the protein. The two nonsense mutations had been reported previously in different patient, but this is the first time to be reported in the proband, which was responsible for the decrease of FXI: activity. Disclosures No relevant conflicts of interest to declare.

The Politics of Reproduction

2017 ◽  
Author(s):  
Katherine Paugh
Keyword(s):  
Labor Force ◽  
British Empire ◽  
Atlantic World ◽  
Slave Trade ◽  
Her Family ◽  
Three Generations ◽  
Caribbean Women ◽  
Slave Society ◽  
Late Eighteenth ◽  
Atlantic Slave Trade

This book examines the history and politics of childbearing in the British Empire during the late eighteenth and early nineteenth centuries. British politicians became increasingly concerned to promote motherhood among Afro-Caribbean women during the era of abolitionism. These politicians hoped that a homegrown labor force would allow for the abolition of the Atlantic slave trade without any disruption to the pace of labor on Caribbean plantations. The plans for reform generated by British politicians were shaped by their ideas about race, medicine, demography, and religion, and so the book explores these fields of comprehension as they related to reproductive reform. While making a broad survey of the politics of reproduction in Atlantic world, the book also focuses in on the story of a Barbadian midwife and three generations of her family. The experiences of Doll and her female kin illustrate how the campaign to promote fertility affected Afro-Caribbean women, and also how they were able to carve out room to maneuver within the constraints of life in a Caribbean slave society.

scholarly journals Biotinylation of Deoxyguanosine at the Abasic Site in Double-Stranded Oligodeoxynucleotides

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Chun Wu
Keyword(s):  
Dna Polymerase ◽  
Click Reaction ◽  
Terminal Deoxynucleotidyl Transferase ◽  
Sequencing Analysis ◽  
Abasic Site ◽  
Nylon Membrane ◽  
Abasic Sites ◽  
Polymerase Chain ◽  
Dna Sequencing Analysis ◽  
Endonuclease Digestion

Biotinylation of deoxyguanosine at an abasic site in double-stranded oligodeoxynucleotides was studied. The biotinylation of deoxyguanosine is achieved by copper-catalyzed click reaction after the conjugation of the oligodeoxynucleotide with 2-oxohex-5-ynal. The biotinylation enables visualization of the biotinylated oligodeoxynucleotides by chemiluminescence on a nylon membrane. In order to investigate the biotinylated site, the biotinylated oligodeoxynucleotides were amplified by the DNA polymerase chain reaction. Replacement of guanine opposing the abasic site with adenine generated by the activity of the terminal deoxynucleotidyl transferase of DNA polymerase was detected by DNA sequencing analysis and restriction endonuclease digestion. This study suggests that 2-oxohex-5-ynal may be useful for the detection of the unpaired deoxyguanosine endogenously generated at abasic sites in genomic DNA.

Human c-fms proto-oncogene: comparative analysis with an abnormal allele

1985 ◽  
Vol 5 (2) ◽  
pp. 422-426
Author(s):  
J S Verbeek ◽  
A J Roebroek ◽  
A M van den Ouweland ◽  
H P Bloemers ◽  
W J Van de Ven
Keyword(s):  
Comparative Analysis ◽  
Dna Sequencing ◽  
Sequencing Analysis ◽  
Base Pairs ◽  
Small Deletion ◽  
Viral Oncogene ◽  
Close Proximity ◽  
Genetic Sequences ◽  
Dna Sequencing Analysis

The organization of the human c-fms proto-oncogene has been determined and compared with an abnormal allele. The human v-fms homologous genetic sequences are dispersed discontinuously and colinearly with the viral oncogene over a DNA region of ca. 32 kilobase pairs. The abnormal c-fms locus contains a small deletion in its 3' portion. DNA sequencing analysis indicated that it was 426 base pairs in size and located in close proximity to a putative c-fms exon.

scholarly journals Comparison of Angelica Species Roots Using Taste Sensor and DNA Sequencing Analysis

2012 ◽  
Vol 27 (6) ◽  
pp. 37-42 ◽  
Author(s):  
Young Hwa Kim ◽  
Goya Choi ◽  
Hye Won Lee ◽  
Gwan Ho Lee ◽  
Seong Wook Chae ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Sequencing Analysis ◽  
Dna Sequencing Analysis ◽  
Taste Sensor

Comparative View of In Silico DNA Sequencing Analysis Tools

2011 ◽  
pp. 207-221 ◽  
Author(s):  
Sissades Tongsima ◽  
Anunchai Assawamakin ◽  
Jittima Piriyapongsa ◽  
Philip J. Shaw
Keyword(s):  
Dna Sequencing ◽  
In Silico ◽  
Sequencing Analysis ◽  
Analysis Tools ◽  
Dna Sequencing Analysis

scholarly journals Evaluation of EGFR, KRAS and BRAF gene mutations in renal cell carcinoma

2014 ◽  
Vol 1 (4) ◽  
pp. 40-45 ◽  
Author(s):  
Omer Bayrak ◽  
Haluk Sen ◽  
Ersan Bulut ◽  
Beyhan Cengiz ◽  
Metin Karakok ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Melting Curve ◽  
Gene Mutations ◽  
Poor Response ◽  
Renal Tumors ◽  
Sequencing Analysis ◽  
Braf Mutations ◽  
Dna Sequencing Analysis

A subset of renal cell carcinoma (RCC) patients has been shown to respond to anti-EGFR therapy. As KRAS and BRAF mutations are associated with poor response to anti-EGFR therapy in some cancers, it has been suggested that screening for KRAS and BRAF mutations in RCC may be a promising strategy to identify patients who might respond to EGFR-targeted therapy. The aim of this study was to investigate the mutation status of EGFR, KRAS and BRAF in RCC patients. Renal tumors and normal renal samples from forty-eight patients who underwent radical or partial nephrectomy for kidney cancer were used in this study. Histological classification of the tumors was performed according to International Union against Cancer (UICC) / American Joint Committee on Cancer (AJCC) classification. Seventeen patients (48%) had clear-cell RCC, 7 (20%) had chromophobe RCC, and 11 patients (32%) had papillary RCC. DNA isolated from the samples was subjected to melting curve mutation analysis for EGFR, BRAF and KRAS using ABI-3130 DNA sequencer. DNA sequencing analysis of RCC samples, when compared with morphologically normal matched regions, did not show any exon mutations. Our results do not support the notion that EGFR, KRAS and BRAF might be mutated in RCC.

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