AI Article Synopsis
- * These diseases have an autosomal recessive inheritance pattern and involve 13 specific genes related to DNA repair and transcription processes.
- * The text summarizes ongoing research into mutations and the complex genotype-phenotype relationships of these disorders, while also proposing a new strategy for genetic diagnosis based on recent findings.
Article 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.
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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2016.05.029 | DOI Listing |
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