Abstract | BACKGROUND: METHODS: Mutation analysis of p63 gene in the first Chinese ADULT syndrome family was performed using direct DNA sequencing. RESULTS: The sequence analysis of exon 8 of p63 gene disclosed a heterozygous G>A substitution at nucleotide 893 (R298Q) in the proband. In addition, a single nucleotide polymorphism (SNP) rs16864880 in the downstream flanking region (DFR) of p63 exon 8 was also identified in this family. The proband and the paternal side including her father exhibited the C/G genotype at this position. The C/G variant frequency in the paternal was significantly higher as compared with the maternal (6/10 vs 0/6, P = 0.034). CONCLUSIONS:
ADULT syndrome may be caused by the p63 gene mutation, and it might have closer genetic association with the paternal side in this family.
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Authors | Xia Wang, Jian Yang, Ai-lin Tao, Wen-lin Yang, Hong-juan Zhang |
Journal | Chinese medical journal
(Chin Med J (Engl))
Vol. 122
Issue 16
Pg. 1867-71
(Aug 20 2009)
ISSN: 2542-5641 [Electronic] China |
PMID | 19781362
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- TP63 protein, human
- Trans-Activators
- Transcription Factors
- Tumor Suppressor Proteins
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Topics |
- Adult
- Asian People
(genetics)
- DNA Mutational Analysis
- Ectodermal Dysplasia
(genetics)
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Models, Molecular
- Mutation
(genetics)
- Pedigree
- Protein Structure, Tertiary
- Trans-Activators
(chemistry, genetics)
- Transcription Factors
- Tumor Suppressor Proteins
(chemistry, genetics)
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