Histo-blood group lewis genotyping from human hairs and blood

Yazawa, Shin; Ohkawara, Hitoshi; Nakajima, Tamiko; Hosomi, Osamu; Akamatsu, Suguru; Kishi, Koichiro

doi:10.1007/bf01892625

Cited by 8 publications

(6 citation statements)

References 18 publications

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“…The Lewis genotypes of patients were determined by the PCR-RFLP methods established recently [15] and partly modified previously [17] to detect three missense mutations in the FUT3 gene. The mutated alleles, Le2, le1, le2 were easily detected by these methods using MspI, PvuII and HindIII enzymes, respectively.…”

Section: Determination Of Lewis Genotypementioning

confidence: 99%

Plasma α1,3-Fucosyltransferase Deficiency in Schizophrenia

Yazawa

Tanaka

Nishimura

et al. 1999

Exp Clin Immunogenet

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Levels of plasma α1,3-fucosyltransferase (α1,3FT) were assayed in 44 patients with schizophrenia and in 50 healthy controls. Significantly reduced enzyme activities were observed in patients (p < 0.05) and 4 unrelated patients were found, for the first time in Japan, to be deficient in the enzyme activity. Two point mutations in the coding region of the FUT6 gene encoding plasma α1,3FT that were responsible for the inactivation of the enzyme activity were detected in those patients. Genotyping of the Le gene (FUT3) in these patients demonstrated that 2 of them were also FUT3 deficient and were grouped as Lewis– individuals whereas the rest were Lewis+.

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Section: Determination Of Lewis Genotypementioning

confidence: 99%

Plasma α1,3-Fucosyltransferase Deficiency in Schizophrenia

Yazawa

Tanaka

Nishimura

et al. 1999

Exp Clin Immunogenet

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“…The recently developed PCR-RFLP methods for FUT3 genotyping have been applied for the determination of genuine Lewis blood types, in particular in blood samples from cancer and pregnant patients whose Lewis blood group phenotypes change frequently [21,28,29]. The presence of Le gene could also be identified from assaying ·1,4-fucosyltransferase in saliva, a product of the FUT3 gene, as reported in our previous studies [29][30][31][32].…”

Section: Discussionmentioning

confidence: 71%

“…The FUT3 genes, Le1, Le2, le1 and le2 were determined by the PCR-RFLP methods established previously using MspI, PvuII and HindIII enzymes, respectively [21].…”

Section: Pcr-rflp Methods For Detecting Mutations In Fut3 Genesmentioning

confidence: 99%

Molecular Analysis of Plasma α1,3-Fucosyltransferase Deficiency and Development of the Methods for Its Genotyping

Tanaka¹,

Yazawa²,

Noguchi³

et al. 2001

Exp Clin Immunogenet

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Four patients with mental illness were found to be deficient in plasma α1,3-fucosyltransferase for the first time in Japan [Exp Clin Immunogenet 1999;16:125–130]. Complete sequencing of FUT6 genes in these individuals revealed the presence of two point mutations, i.e., G739 to A (Glu→247 to Lys) and C945 to A (Tyr→315 to stop). In addition to two reported alleles having G739 to A (pf1) and G739 to A and C945 to A (pf3), a new mutated allele having C945 to A (pf2) was found to be present and all the individuals who lack α1,3-fucosyltransferase activity in plasma were found to possess pf genes homozygously (pf/pf). In order to detect such lethal mutations in FUT6 genes easily, PCR-RFLP methods have also been developed and applied for the screening of FUT6 deficiency in a large number of samples which resulted in the demonstration of three additional FUT6-deficient individuals. The absence of α1,3-fucosylated molecules on α₁-acid glycoprotein in plasma from all the 7 individuals was confirmed to result from the plasma α1,3-fucosyltransferase deficiency.

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“…The conditions of amplification and digestion by restriction enzymes were carried out according to Yazawa et al [14]. Genomic DNA (500 ng) was amplified to obtain the full-length open reading frame of the Fuc-TIII gene.…”

Section: Methodsmentioning

confidence: 99%

“…Nishihara et al [10], Yazawa et al [14] and Liu et al [7] have developed PCR-RFLP methods to determine the Le genotype.…”

Section: Introductionmentioning

confidence: 99%

Lewis genotyping by the PCR-RFLP method in a Japanese population and its evaluation in forensic analysis

Ameno

Kojima

et al. 1997

International Journal of Legal Medicine

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Lewis phenotyping of red blood cells has many problems such as the influence of many biological conditions, the change during the period from newborn to early childhood and mistyping by non-specific anti-Lewis antibodies. Therefore, it would be useful to determine the Lewis genotype. Recently a method of Le-genotyping by PCR-RFLP was established. We determined the frequencies of Lewis genotypes in a Japanese population and discuss the applicability to paternity tests and other forensic applications. The gene frequencies of Le, le1 and le2 in the Japanese population studied were 0.7032, 0.2358 and 0.0610 respectively. Out of 12 paternity cases where paternity was excluded by other markers, 3 alleged fathers could also be excluded by Lewis genotyping. The genotype from organs of a fetus from a 3-month pregnancy was Le/Le. The determination of Lewis genotypes could play a useful role as a genetic marker in paternity tests and forensic analyses.

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Histo-blood group lewis genotyping from human hairs and blood

Cited by 8 publications

References 18 publications

Plasma α1,3-Fucosyltransferase Deficiency in Schizophrenia

Plasma α1,3-Fucosyltransferase Deficiency in Schizophrenia

Molecular Analysis of Plasma α1,3-Fucosyltransferase Deficiency and Development of the Methods for Its Genotyping

Lewis genotyping by the PCR-RFLP method in a Japanese population and its evaluation in forensic analysis

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