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Title: High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia

Abstract

Xeroderma pigmentosum (XP) patients in Tunisia who belong to the genetic complementation group A (XPA) have milder skin symptoms than do Japanese XPA patients. Such difference in the clinical features might be caused by the difference in the site of mutation in the XP A-complementing (XPAC) gene. The purpose of this study is to identify the genetic alterations in the XPAC gene in the Tunisian XPA patients and to investigate the relationship between the clinical symptoms and the genetic alterations. Three sites of mutation in the XPAC gene have been identified in the Japanese XPA patients, and about 85% of them have a G [yields] C point mutation at the splicing acceptor site of intron 3. The authors found that six (86%) of seven Tunisian XPA patients had a nonsense mutation in codon 228 in exon 6, because of a CGA [yields] TGA point mutation, which can be detected by the HphI RFLP. This type of mutation is the same as those found in two Japanese XPA patients with mild clinical RFLP. Milder skin symptoms in the XPA patients in Tunisia than in those in Japan, despite mostly sunny weather and the unsatisfactory sun protection in Tunisia, should be duemore » to the difference in the mutation site. 11 refs., 2 figs., 2 tabs.« less

Authors:
; ; ;  [1]; ;
  1. Kyoto Univ. (Japan)
Publication Date:
OSTI Identifier:
5348443
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics; (United States)
Additional Journal Information:
Journal Volume: 53:5; Journal ID: ISSN 0002-9297
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; XERODERMA PIGMENTOSUM; GENE MUTATIONS; PATHOGENESIS; RFLPS; CONGENITAL DISEASES; DISEASES; HEREDITARY DISEASES; MUTATIONS; SKIN DISEASES; 550400* - Genetics

Citation Formats

Nishigori, Chikako, Imamura, Sadao, Yagi, Takashi, Takebe, Hiraku, Zghal, M, and Komoun, M R. High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. United States: N. p., 1993. Web.
Nishigori, Chikako, Imamura, Sadao, Yagi, Takashi, Takebe, Hiraku, Zghal, M, & Komoun, M R. High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. United States.
Nishigori, Chikako, Imamura, Sadao, Yagi, Takashi, Takebe, Hiraku, Zghal, M, and Komoun, M R. 1993. "High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia". United States.
@article{osti_5348443,
title = {High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia},
author = {Nishigori, Chikako and Imamura, Sadao and Yagi, Takashi and Takebe, Hiraku and Zghal, M and Komoun, M R},
abstractNote = {Xeroderma pigmentosum (XP) patients in Tunisia who belong to the genetic complementation group A (XPA) have milder skin symptoms than do Japanese XPA patients. Such difference in the clinical features might be caused by the difference in the site of mutation in the XP A-complementing (XPAC) gene. The purpose of this study is to identify the genetic alterations in the XPAC gene in the Tunisian XPA patients and to investigate the relationship between the clinical symptoms and the genetic alterations. Three sites of mutation in the XPAC gene have been identified in the Japanese XPA patients, and about 85% of them have a G [yields] C point mutation at the splicing acceptor site of intron 3. The authors found that six (86%) of seven Tunisian XPA patients had a nonsense mutation in codon 228 in exon 6, because of a CGA [yields] TGA point mutation, which can be detected by the HphI RFLP. This type of mutation is the same as those found in two Japanese XPA patients with mild clinical RFLP. Milder skin symptoms in the XPA patients in Tunisia than in those in Japan, despite mostly sunny weather and the unsatisfactory sun protection in Tunisia, should be due to the difference in the mutation site. 11 refs., 2 figs., 2 tabs.},
doi = {},
url = {https://www.osti.gov/biblio/5348443}, journal = {American Journal of Human Genetics; (United States)},
issn = {0002-9297},
number = ,
volume = 53:5,
place = {United States},
year = {Mon Nov 01 00:00:00 EST 1993},
month = {Mon Nov 01 00:00:00 EST 1993}
}