A simple method for diagnosing xeroderma pigmentosum variant

被引:12
作者
Itoh, T
Ono, T
Yamaizumi, M
机构
[1] KUMAMOTO UNIV,SCH MED,INST MOL EMBRYOL & GENET,DEPT CELL GENET,KUMAMOTO 862,JAPAN
[2] KUMAMOTO UNIV,SCH MED,INST MOL EMBRYOL & GENET,DEPT DERMATOL,KUMAMOTO 862,JAPAN
关键词
unscheduled DNA synthesis; recovery of RNA synthesis; recovery of replicative DNA synthesis;
D O I
10.1111/1523-1747.ep12363303
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Patients with xeroderma pigmentosum variant have been diagnosed based on a post-replication repair assay using their cells together with their clinical manifestations, We present here an alternative simple method for the diagnosis of xeroderma pigmentosum variant that measures three cellular markers for DNA repair by autoradiography, unscheduled DNA synthesis, recovery of RNA synthesis, and recovery of replicative DNA synthesis after ultraviolet irradiation, Fibroblasts from a patient are plated on three coverslips parallel with normal cells (control), Unscheduled DNA synthesis, recovery of RNA synthesis, and recovery of replicative DNA synthesis after ultraviolet irradiation in the patient's cells are compared with those of adjacent normal cells by counting numbers df grains on nuclei for each coverslip, Of the hereditary photosensitive disorders including xeroderma pigmentosum, Cockayne syndrome, and newly established ultraviolet-sensitive syndrome, only xeroderma pigmentosum variant cells exhibit normal unscheduled DNA synthesis, normal recovery of RNA synthesis, but reduced recovery of replicative DNA synthesis (approximately 50% of that of control cells), This reduction of DNA synthesis is enhanced hi the presence of caffeine. Because each disorder yields a different combination of these three markers, this method also provides a systematic basis for the diagnosis of these diseases.
引用
收藏
页码:349 / 353
页数:5
相关论文
共 16 条
[11]   XERODERMA PIGMENTOSUM CELLS WITH NORMAL LEVELS OF EXCISION REPAIR HAVE A DEFECT IN DNA-SYNTHESIS AFTER UV-IRRADIATION [J].
LEHMANN, AR ;
KIRKBELL, S ;
ARLETT, CF ;
PATERSON, MC ;
LOHMAN, PHM ;
DEWEERDKASTELEI.EA ;
BOOTSMA, D .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (01) :219-223
[12]  
LEHMANN AR, 1977, CANCER RES, V37, P904
[13]  
MAYNE LV, 1982, CANCER RES, V42, P1473
[14]   COCKAYNE SYNDROME - REVIEW OF 140 CASES [J].
NANCE, MA ;
BERRY, SA .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 42 (01) :68-84
[15]   SEMI-CONSERVATIVE DEOXYRIBONUCLEIC-ACID SYNTHESIS IN UNIRRADIATED AND ULTRAVIOLET-IRRADIATED XERODERMA PIGMENTOSUM AND NORMAL HUMAN-SKIN FIBROBLASTS [J].
RUDE, JM ;
FRIEDBERG, EC .
MUTATION RESEARCH, 1977, 42 (03) :433-442
[16]   DISEASES WITH DNA DAMAGE-PROCESSING DEFECTS [J].
TIMME, TL ;
MOSES, RE .
AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 1988, 295 (01) :40-48