RESUMO
<p><b>BACKGROUND</b>ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome) is a rare ectodermal dysplasia disorder known as autosomal dominant inheritance. Recent studies have linked p63 gene mutation to the development of this disease. However, the genetic characteristics of ADULT syndrome were still not well understood.</p><p><b>METHODS</b>Mutation analysis of p63 gene in the first Chinese ADULT syndrome family was performed using direct DNA sequencing.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSIONS</b>ADULT syndrome may be caused by the p63 gene mutation, and it might have closer genetic association with the paternal side in this family.</p>
Assuntos
Adulto , Feminino , Humanos , Masculino , Povo Asiático , Genética , Análise Mutacional de DNA , Displasia Ectodérmica , Genética , Predisposição Genética para Doença , Modelos Moleculares , Mutação , Genética , Linhagem , Estrutura Terciária de Proteína , Transativadores , Química , Genética , Fatores de Transcrição , Proteínas Supressoras de Tumor , Química , GenéticaRESUMO
<p><b>OBJECTIVE</b>To study the polymorphism of HLA-DM gene in Cantonese patients with condyloma acuminata(CA) and determine the susceptible genetic factors of CA.</p><p><b>METHODS</b>DMA and DMB typing was performed in 98 Cantonese patients with CA and 93 healthy controls using restriction fragment length polymorphism method.</p><p><b>RESULTS</b>The gene frequencies of DMA*0101 and DMB*0101 were significantly higher in the patients than in the controls (P<0.05 and P<0.01, respectively), and gene frequency of DMA*0102 was lower in patients than in the controls (P<0.01). Genotype frequencies of HLA-DM showed no significant difference between CA patients and the controls (P>0.05).</p><p><b>CONCLUSION</b>DMA*0101 and DMB*0101 alleles may be the susceptibility genes or closely linked to the susceptibility gene in Cantonese patients with CA.</p>