Dissertation > Medicine, health > Dermatology and Venereology > Dermatology > Congenital skin disease

Mutation Analysis of p63 Gene in the First Chinese Family with ADULT Syndrome

Author WangXia
Tutor YangJian
School Guangzhou Medical College
Course Dermatology and Venereology
Keywords ADULT syndrome p63 gene Mutation Single nucleotide polymorphism
CLC R758.5
Type Master's thesis
Year 2010
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The research background ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome, OMIM 103285) is a typical of ectodermal dysplasia syndrome. Now that the the ADULT syndrome occurred with p63 gene missense mutations. P63 gene in embryonic development an important role in organ development (especially in the limbs and other ectodermal derivatives), it is highly expressed in the basal cells of the skin, cervix, tongue, esophagus, breast, prostate, urinary tract epithelium. Animal Experiments show p63 gene deficient mice can occur ectodermal ridge developmental defects, this mouse limbs truncated absence of hair follicles, teeth, lacrimal gland, or salivary glands, skin, prostate, breast, and urinary tract epithelial structure. The world only a few reported ADULT syndrome families, low incidence, but because of its cause severe deformity so hazardous, clinical manifestations and specific gene mutation sites also exist diversity, increase the difficulty of diagnosis. The ADULT syndrome genetic characteristics is still not very clear, to learn further research contribute to disease diagnosis, prevention and treatment of the disease gene. Research purposes is clear that the first case of gene mutation in ADULT syndrome family in China to explore the relationship between the incidence of p63 gene mutations in ADULT syndrome, to provide a reference for the diagnosis and treatment of clinical gene. Research object and method of the study analyzed the clinical characteristics of China's first case of ADULT syndrome patients and their family members, collected blood samples of the patients and their family of 17 members, extract DNA, p63 gene as a target gene was amplified by PCR All p63 gene coding exons, the amplification product was sequenced and analyzed. For detection mutation sites, the establishment of the normal control group (56 cases) to be verified. 893 points of the study results in patients with heterozygous mutation (G gt; A), the amino acids encoded by the codon changed from CGA to CAA (glutamine from arginine to that R298Q) occurred. Moreover, a single nucleotide polymorphism (SNP) rs16864880 outside 8 of the p63 gene in patients and paternal members (including his father) in exon flanking region of the downstream C / G genotype, not found in the matrilineal the genotype, the incidence was significantly less than paternal (6/10 vs 0/6, P = 0.034). Conclusion China's first ADULT syndrome patients with p63 gene exon 8 R298Q mutation in the p63 gene mutation in ADULT syndrome incidence, and the occurrence of cases with their paternal family genetics correlation.

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