Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency

Blood ◽  
2004 ◽  
Vol 103 (4) ◽  
pp. 1515-1517 ◽  
Author(s):  
Fawwaz Yassin ◽  
Sheldon P. Rothenberg ◽  
Sreedhar Rao ◽  
Marilyn M. Gordon ◽  
David H. Alpers ◽  
...  
Keyword(s):  
Intrinsic Factor ◽  
Nucleotide Sequence Analysis ◽  
Coding Region ◽  
Chain Reaction ◽  
Exon 2 ◽  
Factor Deficiency ◽  
Schilling Test ◽  
Intrinsic Factor Deficiency ◽  
Polymerase Chain ◽  
A Site

Abstract A 4-base deletion has been identified in the coding region of the gene for gastric intrinsic factor (IF) in an 11-year-old girl with severe anemia and cobalamin (Cbl) deficiency. The bone marrow showed frank megaloblastic morphology, and the Schilling test indicated a failure to absorb Cbl that was corrected by coadministration of IF. Pentagastrin administration induced acid secretion, but the gastric juice lacked IF as determined by CbI binding, by fractionation of protein-bound CbI, and by immunoprecipitation with anti-IF antiserum. Individual exons were amplified by the polymerase chain reaction by using primers to the flanking intronic regions, and the nucleotide sequence analysis identified a 4-base deletion (c183_186delGAAT) spanning positions 104 to 107 in exon 2, resulting in premature termination of translation. This mutation also eliminates a site for Bst XI endonuclease and introduces a site for BsaBI for identifying this deletion in hereditary IF deficiency.

scholarly journals A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency

2003 ◽  
Vol 23 (1) ◽  
pp. 85-91 ◽  
Author(s):  
Marilyn M. Gordon ◽  
Nancy Brada ◽  
Angel Remacha ◽  
Isabel Badell ◽  
Elisabeth del Río ◽  
...  
Keyword(s):  
Genetic Polymorphism ◽  
Intrinsic Factor ◽  
Coding Region ◽  
Factor Gene ◽  
Factor Deficiency ◽  
Intrinsic Factor Deficiency

scholarly journals Deteksi Transgen (Glu-1Dx5) pada Populasi Padi (Oryza sativa L.) Putative Transgenik Kultivar Fatmawati

Agrikultura ◽  
2010 ◽  
Vol 21 (1) ◽  
Author(s):  
Nono Carsono ◽  
Sri Nurlianti ◽  
Inez Nur Indrayani ◽  
Ade Ismail ◽  
Tri Joko Santoso ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Oryza Sativa ◽  
Dna Polymerase ◽  
Genomic Dna ◽  
Oryza Sativa L ◽  
Dna Purification ◽  
Coding Region ◽  
Chain Reaction ◽  
Taq Dna Polymerase ◽  
Polymerase Chain

Transformasi gen Glu-1Dx5, pengendali utama karakter elastisitas dan daya mengembang adonan dari gandum, telah berhasil ditransfer ke dalam genom tanaman padi kultivar Fatmawati dengan menggunakan penembakan partikel, dengan tujuan untuk memperbaiki kualitas adonan tepung beras. Galur-galur harapan telah diperoleh, tetapi karena telah mengalami penyerbukan sendiri selama 1-2 generasi yang menyebabkan transgen mengalami segregasi, maka diperlukan upaya pendeteksian transgen pada populasi putative transgenik ini. Upaya ini dapat dilakukan, antara lain dengan menggunakan teknik Polymerase Chain Reaction (PCR) yang memungkinkan perbanyakan fragmen DNA yang spesifik (gen) secara cepat dalam jumlah banyak.  Percobaan ini bertujuan untuk mendapatkan tanaman padi transgenik yang memiliki gen Glu-1Dx5 pada dua generasi yang sedang bersegregasi. DNA genom dari 149 tanaman padi (generasi T1 sebanyak 14 tanaman, generasi T2 sebanyak 134 tanaman, dan satu tanaman non-transgenik) telah diekstraksi menggunakan Genomic DNA Purification Kit dari Fermentas. Plasmid pK+Dx5 digunakan sebagai positif kontrol, selain itu digunakan juga enzim Taq DNA polymerase dari Go Green Taq® Master Mix (Promega) dan 2 primer spesifik yang mengamplifikasi coding region dari Glu-1Dx5 (2,5 kb). Hasil percobaan menunjukkan, tanaman padi yang memiliki gen Glu-1Dx5 pada generasi T2-7 sebanyak 26 tanaman, T2-11 : 12 tanaman, T2-12 : 3 tanaman, T2-40 : 3 tanaman dan T2-45 : 5 tanaman. Seluruh tanaman generasi T1 tidak memiliki insert. Hasil ini menunjukkan bahwa gen Glu-1Dx5 sudah terintegrasi ke dalam genom tanaman padi kultivar Fatmawati dan diwariskan dari satu generasi ke generasi berikutnya.

scholarly journals New record of species Monascus purpureus in Iraq

2021 ◽  
Vol 26 (5) ◽  
pp. 8-15
Author(s):  
Ghasaq Albrqawy ◽  
A.S.Saadon
Keyword(s):  
Nucleotide Sequence ◽  
Monascus Purpureus ◽  
Nucleotide Sequence Analysis ◽  
Chain Reaction ◽  
Dried Fruits ◽  
Nitrogen Bases ◽  
Pcr Product ◽  
Polymerase Chain ◽  
Microscopic Diagnosis ◽  
Dna Pcr

This study was conducted in the Laboratory of Fungus in the Department of Biology / College of Science / University of Qadisiyah to isolate and diagnose some insulation from fungi isolated from imported dried fruits (raisins) in Qadisiyah province, Iraq. The isolations were diagnosed both morphologically and microscopically using the classification keys and to confirm the appearance and microscopic diagnosis diagnosed using polymerase chain reaction(PCR), And determine the sequence of nitrogen bases (Nucleotide sequence(of compound DNA products using ITS1 and ITS4. The results of the nucleotide sequence analysis of DNA (PCR product) compounding innate isolation and using BLAST to compare with data available at the U.S. National Center for Biotechnology Information (NCBI) have shown that this isolation belongs to the type Monascus purpureus. By comparing the sequence of nitrogen bases of isolated M. purpureus fungus in this study, it was found that there was a 100% similarity to many of the M. purpureus fungus isolates previously registered at the National Center for Biotechnology Information (NCBI), including those diagnosed in China (MT361825, MK359689, MW581230) and Japan (AB477248).

Norwalk-like Virus Sequences Detected by Reverse Transcription-Polymerase Chain Reaction in Mineral Waters Imported into or Bottled in Switzerland

2000 ◽  
Vol 63 (11) ◽  
pp. 1576-1582 ◽  
Author(s):  
CHRISTIAN BEURET ◽  
DOROTHE KOHLER ◽  
THOMAS LÜTHI
Keyword(s):  
Polymerase Chain Reaction ◽  
Reverse Transcription ◽  
Carbonic Acid ◽  
Point Mutations ◽  
Chemical Properties ◽  
The United States ◽  
Mineral Waters ◽  
Nucleotide Sequence Analysis ◽  
Chain Reaction ◽  
Polymerase Chain

Norwalk-like viruses (NLVs) is a genus belonging to the Caliciviridae. NLVs are transmitted by the fecal-oral and the aerosol route and are the most common cause of outbreaks of nonbacterial gastroenteritis. NLVs are responsible for an estimated 67% of all illnesses caused by known foodborne pathogens and for 96% of nonbacterial gastroenteritis in the United States. Many outbreaks could be associated with the consumption of primarily or secondarily contaminated foods. To our knowledge, no epidemic arising from contaminated mineral water has been reported. We investigated the presence of NLV sequences in 63 mineral waters of 29 different brands that were imported into or bottled in Switzerland. NLV sequences were detected in 21 mineral waters by reverse transcription-seminested polymerase chain reaction. Specimens of two NLV genogroups (gg), gg I and gg II, were randomly present in the contaminated samples. The presence of NLV sequences could not be correlated either with bottle characteristics or with chemical properties like mineralization, pH, or the presence of carbonic acid. Nucleotide sequence analysis of 12 NLV-positive samples revealed several point mutations. All isolated NLV gg I strains have a similarity of 70 to 87% with the common Desert Shield virus (UO4469), and all isolated NLV gg II strains have a similarity of 89 to 93% with the Camberwell virus (U46500). Possible reasons for the presence of NLV sequences in mineral waters are discussed.

scholarly journals Hereditary Intrinsic Factor Deficiency in Chaldeans

2012 ◽  
pp. 13-18 ◽  
Author(s):  
Amy C. Sturm ◽  
Elizabeth C. Baack ◽  
Michael B. Armstrong ◽  
Deborah Schiff ◽  
Ayesha Zia ◽  
...  
Keyword(s):  
Intrinsic Factor ◽  
Factor Deficiency ◽  
Intrinsic Factor Deficiency

scholarly journals Characterization of a New Alloantigen (SH) on the Human Neutrophil Fcγreceptor IIIb

Blood ◽  
1997 ◽  
Vol 89 (3) ◽  
pp. 1027-1034 ◽  
Author(s):  
Juergen Bux ◽  
Ernst-Ludwig Stein ◽  
Philippe Bierling ◽  
Patricia Fromont ◽  
Mary Clay ◽  
...  
Keyword(s):  
Nucleotide Sequence Analysis ◽  
Polymorphism Analysis ◽  
Mutational Event ◽  
Coding Region ◽  
Specific Pcr ◽  
Pcr Products ◽  
Polymerase Chain ◽  
Antigen Frequency ◽  
Neonatal Neutropenia

Abstract Polymorphic structures of the neutrophil Fcγreceptor IIIb (FcγRIIIb) result in alloantibody formation that causes alloimmune neonatal neutropenia and transfusion reactions. Alloantigens located on FcγRIIIb include the antigens NA1 and NA2. In four cases of alloimmune neonatal neutropenia, granulocyte-specific alloantibodies directed against a thus far unknown antigen were detected by granulocyte agglutination and immunofluorescence tests in the maternal sera. By the use of the monoclonal antibody–specific immobilization of granulocyte antigens (MAIGA) assay, the new antigen, termed SH, was located on the FcγRIIIb. Nucleotide sequence analysis of the FcγRIIIb coding region from a SH(+) individual showed a single-base C→A mutation at position 266, which results in an Ala78Asp amino acid substitution. A family study confirmed that this nucleotide difference is inherited, and corresponds to the SH phenotype. Serologic typing of 309 randomly selected individuals showed an antigen frequency of 5% in the white population. The same frequency was found by genotyping, for which a technique based on polymerase chain reaction (PCR) using sequence-specific primers (PCR-SSP) was developed. Typing of all SH(+) individuals for NA1 and NA2, and PCR-restriction fragment length polymorphism analysis of the NA-specific PCR products from five SH(+) individuals using the SH-specific endonuclease SfaN I showed that SH antigen is very probably the result of an additional mutational event in the NA2 form of the FcγRIIIB gene. Immunochemical studies also demonstrated that the SH determinants reside on the 65- to 80-kD NA2 isoform of the FcγRIIIb. Our findings show the existence of an additional polymorphism of the FcγRIIIb, which can result in alloantibody formation causing alloimmune neonatal neutropenia.

scholarly journals Vitamin B12 Malabsorption Due to Intrinsic Factor Deficiency in Indian Subjects

Blood ◽  
1972 ◽  
Vol 40 (5) ◽  
pp. 747-753 ◽  
Author(s):  
H. G. Desai ◽  
F. P. Antia
Keyword(s):  
Vitamin B12 ◽  
Pernicious Anemia ◽  
Indian Population ◽  
Intrinsic Factor ◽  
Subacute Combined Degeneration ◽  
Factor Deficiency ◽  
Vitamin B12 Absorption ◽  
Intrinsic Factor Deficiency ◽  
Intrinsic Factor Antibody ◽  
Vitamin B12 Malabsorption

Abstract Sixteen patients (from Bombay) with severe vitamin B12 malabsorption due to intrinsic factor deficiency, presenting as subacute combined degeneration of the cord (7), tropical sprue (3), anemia (2), thyrotoxicosis (2), diabetes mellitus (1), and pain in the abdomen (1), are reported. The difficulties of establishing a definite diagnosis of pernicious anemia in Indian population are described. The lower incidence of circulating intrinsic factor antibody (IFA) in Indian patients with histamine-fast achlorhydria and poor vitamin B12 absorption is emphasized. The necessity of separating atrophic gastritis, with severely impaired vitamm B12 absorption, from pernicious anemia on the basis of absence or presence of IFA in serum and/or gastric juice cannot be overemphasized.

On the Expression of Several Lhc Genes in Garden Cress (Lepidium sativum L.)

1994 ◽  
Vol 49 (11-12) ◽  
pp. 802-810 ◽  
Author(s):  
Harald Brunner ◽  
Wolfhart Rüdiger
Keyword(s):  
Lepidium Sativum ◽  
Published Data ◽  
Coding Region ◽  
Chain Reaction ◽  
Transcript Levels ◽  
Coding Regions ◽  
B1 Gene ◽  
Polymerase Chain ◽  
Lhc Genes ◽  
Lepidium Sativum L

The polymerase chain reaction was used to prepare gene-specific probes for several Lhc genes coding for chlorophyll a/b-binding proteins of cress (Lepidium sativum L.). Due to the presence of about 150 basepairs of the coding region, the isolated clones could be attributed to Lhc a3 (1 clone), Lhc b1 (5 clones), Lhc b2 (1 clone) and Lhc b3 (1 clone) genes. Probes prepared from the 3′ non-coding regions of the clones did not cross-hybridize; they were specific for 3 different Lhc b1 transcripts and one each of Lhc b2, Lhc b3 and Lhc a 3 transcripts. The transcript levels were higher in leaves than in cotyledons of light-grown seedlings; they decreased significantly in cotyledons from week 1 to week 4. The levels of 2 Lhc b1 transcripts (detected with probes cd 1 and cd 2) changed from 1 week old cotyledons (30% c d l, 28% cd 2) to 3 months old leaves (14% c d l), 44% cd 2), stems (11% c d l, 56% cd 2) and fruits (15% cd 1, 62% cd 2, all values percent of total transcripts), whereas transcript levels of another Lhc b1 gene (detected with probe cd 3) and of a Lhc a 3 gene remained nearly constant. The level of Lhc b2 and Lhc b3 transcripts were 1 - 2 orders of magnitude smaller than those of the other Lhc transcripts. The data obtained with cress plants are compared with published data from other plants.

Minimal intraspecific variation in the sequence of the transcribed spacer regions of the ribosomal DNA of lake trout (Salvelinus namaycush)

Genome ◽  
1994 ◽  
Vol 37 (4) ◽  
pp. 664-671 ◽  
Author(s):  
Lang Zhuo ◽  
S. L. Sajdak ◽  
R. B. Phillips
Keyword(s):  
Polymerase Chain Reaction ◽  
Intraspecific Variation ◽  
Ribosomal Dna ◽  
Internal Transcribed Spacer ◽  
Lake Trout ◽  
Intergenic Spacer ◽  
Coding Region ◽  
Chain Reaction ◽  
Internal Transcribed Spacer Region ◽  
Polymerase Chain

Intraspecific variation in the sequence of the transcribed spacer regions of the ribosomal DNA (rDNA) in lake trout was examined by restriction mapping and sequencing of these regions amplified by the polymerase chain reaction. The length of the first internal transcribed spacer region (ITS-1) was 566 bases and the second internal transcribed spacer region (ITS-2) was 368 bases in lake trout. When the 1.4-kb region including the ITS-1, the 5.8S coding region, and the ITS-2 was amplified from 12 individuals from four populations and digested with eight different enzymes only one intraindividual polymorphism was found that occurred in each population. When the amplified ITS-1 region was sequenced from an additional 10 individuals from five populations, no interindividual variation was found in the sequence. A 6-kb portion of the rDNA repeat unit including 1.6 kb of the 18S coding region, the 5′ external spacer region (5′ ETS), and part of the adjacent intergenic spacer was cloned and a restriction map was prepared for these regions in lake trout. No intraspecific variation was found in the region adjacent to the 18S rDNA, which includes the 5′ ETS, although intraspecific and intraindividual length variation was found in the intergenic spacer region 3–6 kb from the 18S. Sequencing of a 609-b segment of the 5′ ETS adjacent to the 18S coding region revealed the presence of two 41-b repeats. The 198-b sequence between the repeats had some similarity to the 18S coding region of other fishes. Primers were designed for amplification of 559 b of the 5′ ETS using the polymerase chain reaction. No intraspecific variation in this region in lake trout was found when the DNA amplified from this region in 12 individuals from four populations was digested with eight restriction enzymes.Key words: ribosomal DNA, internal transcribed spacer regions, 5′ external spacer region, transcribed spacer, lake trout.

Sign in / Sign up

Export Citation Format

Share Document