Advance in research on causative genes of xeroderma pigmentosum and related diseases.
10.3760/cma.j.issn.1003-9406.2016.05.029
- Author:
Zhonghui SUN
1
,
2
;
Yunyi GUO
;
Jia ZHANG
;
Yin ZHUANG
;
Ming LI
;
Zhirong YAO
Author Information
1. Department of Dermatology, Fengxian Institute of Dermotosis Prevention, Shanghai 201408, China
2. Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University Medical School, Shanghai 200092, China. Email: zryaosmu@sohu.com.
- Publication Type:Journal Article
- MeSH:
Biomedical Research;
methods;
trends;
Cockayne Syndrome;
genetics;
DNA Damage;
DNA Repair;
genetics;
Genetic Predisposition to Disease;
genetics;
Humans;
Skin;
metabolism;
pathology;
radiation effects;
Trichothiodystrophy Syndromes;
genetics;
Ultraviolet Rays;
Xeroderma Pigmentosum;
genetics
- From:
Chinese Journal of Medical Genetics
2016;33(5):708-712
- CountryChina
- Language:Chinese
-
Abstract:
Ultraviolet light(UV)-sensitive disorders refer to a group of diseases due to damages to the nucleotide excision repair mechanism which cannot effectively repair DNA damage caused by ultraviolet radiation. The inheritance pattern of such diseases, mainly including xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, is autosomal recessive and known to involve 13 genes. As proteins encoded by such genes are involved in DNA repair and transcription pathways. There is overlap between the symptoms of such diseases, and their genotype - phenotype correlations are quite complex. To facilitate genetic and prenatal diagnosis for such diseases, a summary of the research progress is provided, which mainly focused on mutation research and genotype - phenotype correlation studies. We also propose a strategy for their genetic diagnosis based on recent findings of our group.
