Human orosomucoid polymorphism: molecular basis of the three common ORM1 alleles, ORM1*F1, ORM1*F2, and ORM1*S

Yuasa, Isao; Umetsu, Kazuo; Vogt, Ulrike; Nakamura, Hiroaki; Nanba, Eiji; Tamaki, Nobuto; Irizawa, Yoshito

doi:10.1007/s004390050378

Cited by 67 publications

(82 citation statements)

References 28 publications

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“…Single-strand conformation polymorphism (SSCP) analysis and direct sequencing have also been described (Yuasa et al 1997;Nakamura et al 2000aNakamura et al , 2000b. The nucleotide numbering was usually according to Merritt and Board (1988).…”

Section: Analysis Of Nested Pcr Productsmentioning

confidence: 99%

“…ORM1*F2 evolved from ORM1*S through two mutational events. ORM2*M, the most common allele at the ORM2 locus, has CGG (Arg) and ATG (Met) (Yuasa et al 1997). With regard to African populations, only an isoelectric focusing study of African-Americans has been performed, and two ORM1 and four ORM2 alleles have been detected (Escallon et al 1987).…”

Section: Introductionmentioning

confidence: 99%

“…Gene-specific amplification of exons 1-3 and 4-6, and the nested PCR of six exons were performed as described previously (Yuasa et al 1997;Nakamura et al 2000aNakamura et al , 2000b. In this study, the AGP1 and AGP2 gene-specific products are referred to as the p1S and p2S products, respectively.…”

Section: Nested Pcr Of Exons and Intronsmentioning

confidence: 99%

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Characterization of genomic rearrangements of the α1-acid glycoprotein/orosomucoid gene in Ghanaians

et al. 2001

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In this study, the structure of the α 1 -acid glycoprotein (AGP), or orosomucoid (ORM), gene was investigated in a Ghanaian mother and her child, who shared an unusual variant, ORM1 S2(C), found by isoelectric focusing. Three remarkable changes of nucleotide sequence were observed:(1) The two ORM1 alleles, ORM1*S and ORM1*S2(C), had the AGP2 gene-specific sequence at one and three regions, respectively, in exon 5 to intron 5. The variant allele originating from ORM1*S was characterized by a G-to-A transition, resulting in an amino acid change from valine to methionine, which is also detected in ORM1 F2, a form that is common in Europeans. (2) The AGP2 gene of the child, inherited from the father, was duplicated, as revealed by long-range polymerase chain reaction. (3) Three new mutations were observed in two exons of the AGP2 genes of the mother and child. All of these novel genomic rearrangements, which were not observed in Japanese subjects, may have arisen through point mutation, gene conversion, and unequal crossover events. It is likely that the rearrangement of the AGP gene has often occurred in Africans.

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Section: Analysis Of Nested Pcr Productsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Characterization of genomic rearrangements of the α1-acid glycoprotein/orosomucoid gene in Ghanaians

et al. 2001

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“…The HSA orosomucoid polymorphisms (Yuasa et al 1993;Yuasa et al 1997) have been widely studied in a range of populations. The results presented in this survey provide evidence for further variation at the AGP gene locus and the polymorphisms described may be potentially useful as genetic markers in a variety of forensic, linkage and population studies.…”

Section: Discussionmentioning

confidence: 99%

Identification and characterization of polymorphisms at the HSA alpha1-acid glycoprotein (ORM*) gene locus in Caucasians

Owczarek

Board

2002

Genet. Mol. Biol.

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Human α 1 -acid glycoprotein (AGP) or orosomucoid (ORM) is a major acute phase protein that is thought to play a crucial role in maintaining homeostasis. Human AGP is the product of a cluster of at least two adjacent genes located on HSA chromosome 9. Using a range of restriction endonucleases we have investigated DNA variation at the locus encoding the AGP genes in a panel of healthy Caucasians. Polymorphisms were identified using BamHI, EcoRI, BglII, PvuII, HindIII, TaqI and MspI. Non-random associations were found between the BamHI, EcoRI, BglII RFLPs. The RFLPs detected with PvuII, TaqI and MspI were all located in exon 6 of both AGP genes. The duplication of an AGP gene was observed in 11% of the indiviuals studied and was in linkage disequilibrium with the TaqI RFLP. The identification and characterization of these polymorphisms will prove useful for other population and forensic studies.

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“…The samples were immediately loaded on a 12% polyacrylamide gel and run at 150 V for 6h at room temperature. The DNA bands were visualized by simple silver staining (Yuasa et al 1997).…”

Section: Methodsmentioning

confidence: 99%

Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria

et al. 2000

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Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). Regarding the abnormalities of the HMBS gene, many different mutations have been reported worldwide; however, few families from Japan have been studied. In this work, we investigated the presence of mutations in two unrelated Japanese patients with AIP. Mutational analysis was performed using the polymerase chain reaction-single strand conformation polymorphism (SSCP) method, followed by DNA sequencing. Reliable restriction enzyme cleavage assays were also established for the pedigree analyses. Unique SSCP patterns were noted in exons 12 and 15 of the HMBS gene. Sequencing revealed different mutations in each patient: a two-base deletion of CT at nucleotide 730-731 (730delCT), and also a two-base deletion of CA at position 982-983 (982delCA). Both of the deletion mutations lead to truncated proteins with an abnormal C-terminus, which would be expected to decrease the stability and/or activity of HMBS. Using the cleavage assays, we were able to definitively identify gene carriers in the family. This study adds a novel mutation to those that have been previously reported, and emphasizes that molecular analysis would be very useful not only for the identification of asymptomatic gene carriers in the family but also for the detection of ancestral founders in porphyria families.

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Human orosomucoid polymorphism: molecular basis of the three common ORM1 alleles, ORM1F1, ORM1F2, and ORM1*S

Cited by 67 publications

References 28 publications

Characterization of genomic rearrangements of the α1-acid glycoprotein/orosomucoid gene in Ghanaians

Characterization of genomic rearrangements of the α1-acid glycoprotein/orosomucoid gene in Ghanaians

Identification and characterization of polymorphisms at the HSA alpha1-acid glycoprotein (ORM*) gene locus in Caucasians

Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria

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