Dominant β‐thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the β‐globin gene

Öner, Reyhan; Öner, Cihan; Wilson, J. B.; Tamagnini, Gabriele; Ribeiro, Lilian; Huisman, T. H. J.

doi:10.1111/j.1365-2141.1991.tb04538.x

Cited by 32 publications

(5 citation statements)

References 25 publications

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“…The amplification of all exons of the factor XIII A gene were performed with the primers described previously (Board et al , 1992). The 15 exons and their flanking regions of the FXIII A gene from the patients, their family members and controls were sequenced (Öner et al , 1991; Kangsadalampai et al , 1996). As the presence of a C→G mutation creates an Mbo II cleavage site, an aliquot of the PCR product of exon 12 was digested with the restriction endonuclease Mbo II as recommended by the manufacturer.…”

Section: Methodsmentioning

confidence: 99%

Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion

Birben¹,

Öner²,

Öner³

et al. 2002

Br J Haematol

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Summary. Molecular analysis of factor XIII A gene on three unrelated Turkish families identified two novel and one known mutations. One novel mutation is a substitution of cytidine by guanine at codon 541 in exon 12, b barrel 1 domain of the coagulation factor XIII A subunit gene resulting in the conversion of asparagine to lysine. The mutation alters the restriction site of the enzyme MboII. The second novel mutation, a 4 bp (-CAAA) deletion located in a direct repetitive sequence (CAAACAAA) between codons 466-469, results in premature termination of translation at codon 474. The third mutation is a previously reported single nucleotide (cytidine) insertion at codon 400 in exon 9 of the factor XIII gene.

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Section: Methodsmentioning

confidence: 99%

Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion

Birben¹,

Öner²,

Öner³

et al. 2002

Br J Haematol

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“…In all of these cases, these were pure deletions, since no extra nucleotides were inserted at the deletion site. Complex rearrangements with inversion, duplication, and insertion are frequent in gross deletions but are rarely found with small deletion/insertions (45,46).…”

Section: (Leucine)mentioning

confidence: 99%

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

Villa

Notarangelo

Santo

et al. 1994

Proc. Natl. Acad. Sci. U.S.A.

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After interaction of CD40L with CD40 and costimulation by appropriate cytokines (interleukins 4 and 10), 13 cells proliferate and perform unoglobulin isotype switch (6). Mutations in CD40L transcripts in 12 cases ofHIGMi have been characterized (8-11). Among these, 11 have been detected in the extracellular domain, with the 12th being located in the transmembrane domain. Nine patients demnstrated point mutations; three patients reported by a single group had deletions of 8, 10, and 63 bp, respectively (10). Interestingly, these three deletions clustered within a limited region of the coding sequence. Although a splicing defect has been hypothesized, it could not be demonstrated since the genomic structure ofthe CD40L gene was not known. In additon, two other incompletely characterized mutations have been briefly reported (12, 13), one of which had a deletion of 58 nucleotides adjacent to those absent in the 63-bp deletion.These small deletions in mRNA might result from true genomic deletions or mutations that affect splcing of the transcript. Here we report the CD40L genomic structure and a more precise characterization of these abnormaites. We also show that knowledge of the CD40L exonintron structure can be applied to prenatal diagnosis of HIGSi using PCR amplification of genomic DNA derived from fetal samples. MATERIALS AND METH-OSolation ofGenoic Clones for CD40L. Two parallel strategies were used to isolate .CD40L genomic sequences. The first utilized PCR amplification ofgenomic DNA using primer pairs corresponding to the coding regions. The second approach involved isolation of clones from an X chromosomeenriched cosmid library gridded onto nylon filters (14) using a full-length CD40L cDNA (7). Both approaches proved successful and provided identical data regarding sequence and structural organization.The following primers were used to amplify the whole coding region of CD40L in six steps.

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“…The β-thalassemia mutations were detected with the dideoxy chain termination sequencing method of Sanger et al [21]. Amplification and sequencing of the β-globin gene followed procedures described before [22]. …”

Section: Methodsmentioning

confidence: 99%

Effect of α-Gene Numbers on the Expression of β-Thalassemia intermedia, β-Thalassemia and (δβ)°-Thalassemia Traits

Altay

Öner

et al. 1998

Hum Hered

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The effects of variations in α-gene numbers on phenotypical expression of β-thalassemia are assessed in 11 subjects of 8 families. The study indicates that coexistence of α-thalassemia (–α^3.7/αα) decreases the HbF in IVSI-6 homozygote and in δβ-thalassemia trait and may ameliorate the disease in β-thalassemia compound heterozygotes associated with one mild and one severe β-thalassemia mutation. Coexistence of α-gene triplication is associated with an increase in HbF value and may increase the severity of β-trait or β-thalassemia intermedia. The effects of α-gene triplication on phenotypic expression of β-thalassemia trait may not be uniformly observed in every subject affected with a similar genotype.

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Dominant β‐thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the β‐globin gene

Cited by 32 publications

References 25 publications

Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion

Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

Effect of α-Gene Numbers on the Expression of β-Thalassemia intermedia, β-Thalassemia and (δβ)°-Thalassemia Traits

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