Discrimination of Human Hla‐drb1 Alleles by Pcr‐sscp (Single‐strand Conformation Polymorphism) Method

Bannai, Makoto; Tokunaga, Katsushi; Lin, Longshan; Kuwata, Shoji; Mazda, Toshio; Amaki, Itta; Fujisawa, Kiyoshi; Juji, Takeo

doi:10.1111/j.1744-313x.1994.tb00170.x

Cited by 114 publications

(71 citation statements)

References 8 publications

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“…Exon 2 and 4 were divided into two segments and exon 11, 12 and 13, 14 were amplified together as one fragment, because the size of the fragment optimal for this method was determined to be 200-400 bp in previous studies. 55,56 The promoter region was analyzed using nested PCR, because of the low amplification efficiency of the single-step PCR. The first primer set was designed to amplify −1351~136 using long PCR.…”

Section: Pcr-sscpmentioning

confidence: 99%

Polymorphisms of human CD19 gene: possible association with susceptibility to systemic lupus erythematosus in Japanese

et al. 2002

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CD19 regulates the signaling for B lymphocyte development, activation and proliferation. In mice, CD19 deficiency and overexpression were shown to result in hypogammaglobulinemia and autoantibody production, respectively. In the present study, we screened for the polymorphisms of CD19 , and examined the detected polymorphisms for the association with rheumatoid arthritis (RA), Crohn's disease and systemic lupus erythematosus (SLE). Two SNPs, were decreased (P = 0.0096 and P = 0.028, respectively), in SLE. A GT repeat polymorphism, c.*132(GT) [12][13][14][15][16][17][18] , was detected within the 3'-untranslated region, and individuals with у15 times repeat was significantly increased in the independent two groups of Japanese SLE patients (P = 0.011 and P = 0.035, respectively); the overall difference between total SLE and controls was striking (P = 0. [15][16][17][18] alleles compared with those without these alleles, both in controls and in SLE patients; however, the difference did not reach statistical significance. These results suggested that either the slight reduction in the CD19 mRNA level associated with the elongation of GT repeat, or an allele of another locus in linkage disquilibrium with CD19 (GT) [15][16][17][18] , may be associated with susceptibility to SLE in Japanese. 0061). No association was observed for RA and Crohn's disease. In addition, no variations other than the common polymorphisms were detected in four patients with common variable immunodeficiency, the phenotype of which resembles CD19 deficient mice. In Caucasian SLE families, this GT repeat polymorphism was rare. CD19 mRNA level in the isolated peripheral blood B lymphocytes was lower in individuals possessing (GT)

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Section: Pcr-sscpmentioning

confidence: 99%

Polymorphisms of human CD19 gene: possible association with susceptibility to systemic lupus erythematosus in Japanese

et al. 2002

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“…GPR9 corresponds to the putative CXCR3 exon 2 and consists of partial CXCR3 coding region [CXCR3 (5-368)] of 1095 bp and the 3′ untranslated region (3′UTR). 13 Since the optimal size of PCR product for SSCP was determined to be 200-400 bp in the previous studies, 50 specific primer sets were designed to amplify six overlapping segments of the entire coding region of CXCR1. CXCR2 was divided into five fragments and CXCR3 exon 2 into five as well.…”

Section: Pcr-sscp Analysismentioning

confidence: 99%

Single nucleotide polymorphisms in the coding regions of human CXC-chemokine receptors CXCR1, CXCR2 and CXCR3

2000

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Chemokines and their receptors have critical roles in inflammatory and immunological responses, and thus their genetic contribution to various human disorders needs investigation. In this study, systematic variation screening of the entire coding regions of CXCR1 (IL8RA), CXCR2 (IL8RB) and CXCR3 was carried out, using genomic DNA from a large number of Japanese healthy individuals and patients with rheumatic diseases. In addition to the previously reported variations in CXCR1 and in CXCR2, two non-synonymous, two synonymous substitutions and one nonsense mutation of CXCR1, one non-synonymous and two synonymous substitutions of CXCR2, two non-synonymous substitutions of CXCR3 were newly identified. The common single nucleotide polymorphisms (SNPs) at CXCR1 codon 827 and CXCR2 codon 786 were in strong linkage disequilibrium. In addition, familial analysis indicated that human CXCR3 is located on chromosome X. No significant association was observed between the variations and the tested rheumatic diseases. However, CXCR variations identified in this study will provide valuable information for the future studies in medical sciences as well as in human genetics. Genes and Immunity (2000) 1, 330-337.

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“…DNA was prepared from peripheral-blood leucocytes taken from the subjects. The 3243 bp mutation in the mitochondrial DNA was determined by the potymerase chain reaction (PCR) specific to this mutation [13] and digestion with restriction endonuclease Apa I followed by silver staining detection [14] after 10 % SDS-PAGE. The anti-GAD (glutamic acid decarboxylase) antibody was measured by radioimmunoassay using GAD purified from pig brain (Hoechst GAD kit; Hoechst, Tokyo, Japan) [15].…”

Section: Patients Our Diabetes Center At the Tokyo Women's Medicalmentioning

confidence: 99%

Mutation in the mitochondrial tRNAleu at position 3243 and spontaneous abortions in Japanese women attending a clinic for diabetic pregnancies

Yanagisawa¹,

Uchigata

Sanaka

et al. 1995

Diabetologia

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SummaryMitochondrial DNA is exclusively maternally inherited. We recently found the prevalence of diabetic patients with an A to G transition at position 3243 of leucine tRNA (3243 base pair (bp) mutation) to be nearly 1% in randomly selected Japanese subjects. Here, we report the higher prevalence of diabetic patients with the 3243 bp mutation in a specific Japanese population of women attending a diabetic pregnancy clinic. Of 102 patients with non-insulin-dependent diabetes mellitus 6 (5.9 %) were positive for the mutation, 1 (8.3 %) of 12 patients with gestational diabetes and 2 (5.9 %) out of 34 borderline diabetic patients. In contrast, none of 64 patients (0 %) with insulin-dependent diabetes mellitus had the 3243 bp mutation. Moreover, there was a difference in the prevalence of spontaneous abortions between patients with and without this mutation (27.3 vs 12.4%). Among nine probands with the mutation, four had a history of one spontaneous abortion (p = 0.0518) and two had a history of two abortions (p = 0.0479). Two probands had a spontaneous abortion even while under strict diabetic metabolic control. The 3243 bp mutation thus may cause spontaneous abortion during pregnancy. [Diabetologia (1995) 38: 809-815] Key words Mitochondrial DNA mutation, insulin-dependent diabetes mellitus, non-insulin-dependent diabetes mellitus, gestational diabetes mellitus.It is well-known that one of the main causes of spontaneous abortion is an abnormality in the fetus rather than a problem in the mother [1]. The prevalence of abortion in diabetic women is higher in the high-titre HbAI: group during the first trimester [2,3]. Pre-pregnancy education courses are available in diabetic pregnancy clinics in Japan, and diabetic mothers are instructed to keep postprandial blood

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Discrimination of Human Hla‐drb1 Alleles by Pcr‐sscp (Single‐strand Conformation Polymorphism) Method

Cited by 114 publications

References 8 publications

Polymorphisms of human CD19 gene: possible association with susceptibility to systemic lupus erythematosus in Japanese

Polymorphisms of human CD19 gene: possible association with susceptibility to systemic lupus erythematosus in Japanese

Single nucleotide polymorphisms in the coding regions of human CXC-chemokine receptors CXCR1, CXCR2 and CXCR3

Mutation in the mitochondrial tRNAleu at position 3243 and spontaneous abortions in Japanese women attending a clinic for diabetic pregnancies

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