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Molecular Biological Diagnosis of Xeroderma Pigmentosum group A and Clinical Characteristics

Research Project

Project/Area Number 05807071
Research Category

Grant-in-Aid for General Scientific Research (C)

Allocation TypeSingle-year Grants
Research Field Dermatology
Research InstitutionKYOTO UNIVERSITY

Principal Investigator

MATSUYOSHI Norihisa (1994)  Kyoto Univ.Faculty of Medicine Instructor, 医学部, 助手 (10263071)

錦織 千佳子 (1993)  京都大学, 医学部, 助手 (50198454)

Co-Investigator(Kenkyū-buntansha) TANAKA Toshihiro  Kyoto Univ.Faculty of Medicine Instructor, 医学部, 助手 (50188314)
武部 啓  京都大学, 医学部, 教授 (10028318)
Project Period (FY) 1993 – 1994
Project Status Completed (Fiscal Year 1994)
Budget Amount *help
¥1,700,000 (Direct Cost: ¥1,700,000)
Fiscal Year 1994: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1993: ¥1,100,000 (Direct Cost: ¥1,100,000)
KeywordsXeroderma Pigmentosum / Mutation / PCR-RFLP / Gene Diagnosis / Founder Effect / XPAL遺伝子 / RFLP
Research Abstract

The gene alterations of XPA gene were identified on 46 patients belonging to xeroderma pigmentosu (XP) group A.Among those, 41 patients (89%) had splicling mutation in intron 3 which could be confirmed by PCR-RFLP using restriction enzyme, AlwN I (Alw NI -/-) , Those having this splicing mutation revealed early onset of skin cancer (most cases before the age of 10) and severe neurological symptoms. 2 patients were identified to be compound heterozygote of splicing mutation of intron 3 (Alw NI +/-) and nonsense mutation of codon 228 in exon 6 which could be confrmed by PCR-RELP using Hph I (Hph I +/-) . One patient had a mutation in codon 116 in exon 3 which could be confirmed by the PCR-RFLP using restriction enzyme Mse I at the heterozygous state (Mse I +/-) with heterozygous splicing mutation of intron 3 (Alw N I +/-) .One patient having homozygous mutation at codon 228 in exon 6 (Hph I -/-) developed skin cancer at the age of 24 and mind neurological sysmptoms. It implies different genotype reveals different clinical features. One patient had a splicing mutation of intron 3 at the heterozygous state (Alw N I +/-) without any other kown mutation. The presense of mutation in XPA gene was screened by PCR-SSCP and it was found that this patient had a mutation at the last codon of exon 5 in the heterozygous state. In Tunisian XPA patients 6 out of 7 patients revealed Hph I -/- genotype and they developed skin cancer around the age of 20 despite atronger Sun light there. This is consistent with the data in which the Japanese Hph I -/- patient showed milder clinical features. From our results the usefulness of PCR-RFLP and PCR-SSCP in the diagnosis of XP was shown. The clinical chracteristics appear to be closely related to the site of mutation. Founder effect of two types of muation of XPA gene was obserevd.

Report

(3 results)
  • 1994 Annual Research Report   Final Research Report Summary
  • 1993 Annual Research Report
  • Research Products

    (18 results)

All Other

All Publications (18 results)

  • [Publications] C.Nishigori: "High Prevalence of the point intation in Exon 6 of Xeroderma Pigmentosum Group A Patients in Tunisia" American Journal of Human Genetics. 53. 1001-1006 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] S. Moriwaki: "Absence of Repair Deficiency in the Confirmed Heterozygotes of Xeroderma Pigmentosum Group A." Journal of Investgative Dermatology. 100. 69-72 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] C. Nishigori: "Gene Alterations and Clinical Characteristics of Xeroderma Pigmentosum Group A Patients in Japan." Archives of Dermatology. 130. 191-197 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 錦織 千佳子: "色素性乾皮症研究の現況-遺伝子研究とその臨床応用を中心に-" 臨床皮膚科. 48. 52-68 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 錦織 千佳子: "臨床遺伝医学" 診断と治療社, 372 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] S.Moriwaki, C.Nishogori, T.Teramoto, T.Tanaka, S,Koreeda, H.Takebe, S,Imamura: "Absence of DNA Repair Deficiency in the Confirmed Heterozygotes of Xeroderma Pigmentosum GroupA" J.Inveal, Dematol. 100. 69-72 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] C.Nishigori, M.Zghal, T.Yagi, S.Imamura, M.R.Kamoun, H.Takebe: "High Prevalence of the Point Mutation in Exon 6 of the Xeroderma Pigmentosum GroupA Patients in Tunisia" Am.J.Hum.Genet.53. 1001-1006 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] C.Nishigori, S.Moriwaki, H.Takebe, T.Tanaka, S.Imamura: "Gene A Herations and Clinical Characteristics of Xeroderma Pigmentosum GroupA Patients in Japan" Archives of Dermatid. 130. 191-197 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] C.Nishigori: "High Prevalence of the point intation in Exon 6 of Xeroderma Pigmentosum Group A patients in Tuhisia" American Journal of Human Genetics. 53. 1001-1006 (1993)

    • Related Report
      1994 Annual Research Report
  • [Publications] S.Moriwaki: "Absence of Repair Deficiency in the Confirmed Heterozygotes of Xeroderma pigmentosum GroupA." Journal of Investigative Dermatology. 100. 69-72 (1993)

    • Related Report
      1994 Annual Research Report
  • [Publications] C.Nishigori: "Gere Alterations and Clinical Characteristics of Xeroderma Pigmentosum Group A Patients in Japan." Arch:of Dermatology. 130. 191-197 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 錦織千佳子: "色素性乾皮症研究の現況-遺伝子研究とその臨床応用を中心に-" 臨床皮膚科. 48. 52-68 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 錦織千佳子: "臨床遺伝医学" 診断と治療社, 372 (1993)

    • Related Report
      1994 Annual Research Report
  • [Publications] Chikako Nishigori: "High prevalance of a point mutation in exon 6 of XPAC gene in xeroderma Pigmentosum group A patients in Tunisia" Amer J Hum Genet.53. 1001-1006 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 錦織千佳子: "色素性乾皮症(遺伝)" 臨床遺伝医学IV-癌と遺伝. 51-55 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 錦織千佳子: "色素性乾皮症研究の現況-遺伝子研究とその臨床応用を中心に-" 臨皮. 9-17 (1994)

    • Related Report
      1993 Annual Research Report
  • [Publications] Shin-ichi Moriwaki: "A case of Rothumund-Thomson Syndrome with redused DNA repair capacity." Arch Dermatol. 129. 332-336 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Shin-ichi Moriwaki: "Absence of DNA repair dificiency in the conpirmed heterozygotes of xeroderma pigmentosum group A." J.Invest Dermatol. 101. 69-72 (1993)

    • Related Report
      1993 Annual Research Report

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Published: 1993-04-01   Modified: 2016-04-21  

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