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ABSTRACT: Pachyonychia congenita is an autosomal dominant disorder that usually develops in early infancy. The major features of the syndrome are hypertrophic nail dystrophy, palmoplantar keratoderma and oral leucokeratosis, accompanied by other ectodermal defects, according to subtype.
To analyse the K6a gene mutation in a sporadic Chinese patient with pachyonychia congenita type 1 (PC-1) and to explore the relationship between the genotype and phenotype of PC-1.
Genomic DNA was extracted from peripheral blood of the patient with PC-1 and 100 unrelated controls. The whole coding region of K6a gene was amplified using long-range polymerase chain reaction (PCR); nested PCR was then used to amplify the mutation 'hot-spot' of the K6a gene. The PCR products were directly sequenced to detect the mutation.
A novel missense mutation L468Q in the helix 2B domain of the K6a polypeptide was identified in the patient but not in the healthy individuals from the family and 100 unrelated control individuals.
We describe this mutation for the first time, and provide further evidence that the helix boundary motif sequences of K6a are a mutation 'hot-spot'.
Journal of the European Academy of Dermatology and Venereology 04/2007; 21(3):351-5. · 2.98 Impact Factor
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X Y Zhao,
S Yang,
H L Zhou, Y G Zhu,
L Wei,
W H Du,
Y Q Ren,
Y H Liang,
Y X Hou,
J J Chen,
X J Zhang
British Journal of Dermatology 12/2006; 155(5):1070-3. · 3.67 Impact Factor
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ABSTRACT: Some studies have shown discrepancies in human leucocyte antigen (HLA) associated with alopecia areata (AA) between different ethnic populations.
To investigate whether HLA-I, -DQA1 and -DQB1 alleles and the HLA haplotype are associated with AA, and the correlation between the HLA haplotype profile, age of onset and severity of AA in Chinese Hans.
The polymerase chain reaction-sequence specific primer (PCR-SSP) method was used to analyse the frequencies of HLA class I, -DQA1 and -DQB1 alleles in 192 patients with AA and 252 controls in Chinese Hans. The linkage disequilibrium was calculated using the 2 x 2 table.
The 24 two-locus haplotypes [including A*02-B*18, A*02-B*27, A*02-B*52, A*02-Cw*0704, A*02-DQA1*0104, A*02-DQB1*0604, A*02-DQB1*0606, B*18-Cw*0704, B*18-DQA1*0104, B*18-DQA1*0302, B*18-DQB1*0606, B*27-Cw*0704, B*27-DQA1*0104, B*27-DQA1*0302, B*52-Cw*0704, B*52-DQA1*0104, B*52-DQA1*0302, B52-DQB1*0606, Cw*0704-DQA1*0104, Cw*0704-DQA1*0302, Cw*0704-DQB1*0606, DQA1*0104-DQB1*0604, DQA1*0104-DQB1*0606, DQA1*0302-DQB1*0606 (P<0.05)] were associated with AA, while eight extended haplotypes (A*02-B*18-DQA1*0104, A*02-B*27-DQA1*0104, A*02-B*52-DQA1*0104, A*02-B*52-DQA1*0302, A*02-B*52-DQB1*0606, B*52-Cw*0704-DQA1*0104, B*52-Cw*0704-DQA1*0302, A*02-B*52-DQA1*0302-DQB1*0606) were found to be related to AA in Chinese Hans. Through stratified analysis, we found that the extended haplotype B*52-Cw*0704-DQA1*0302 was related to early onset of AA, and no haplotype was only associated with severe AA.
This is the first detailed report to elucidate HLA haplotypes associated with AA and that demonstrates the significant HLA haplotypes in Chinese Hans AA. The haplotype B*52-Cw*0704-DQA1*0302 was identified to be related to early onset of AA. Our results provide some information for future research on predisposing genes in HLA regions in Chinese Hans.
Journal of the European Academy of Dermatology and Venereology 11/2006; 20(10):1207-13. · 2.98 Impact Factor
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X.Y. Zhao,
S. Yang,
H.L. Zhou, Y.G. Zhu,
L. Wei,
W.H. Du,
Y.Q. Ren,
Y.H. Liang,
Y.X. Hou,
J.J. Chen,
X.J. Zhang
British Journal of Dermatology 08/2006; 155(5):1070 - 1073. · 3.67 Impact Factor
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P-G Wang,
M Gao,
G-S Lin,
S Yang,
D Lin,
Y-H Liang,
G-L Zhang, Y-G Zhu,
Y Cui,
K-Y Zhang,
W Huang,
X-J Zhang
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ABSTRACT: Acrokeratosis verruciformis of Hopf (AKV) is a rare genodermatosis characterized by multiple flat-topped, flesh-coloured papules on the dorsa of hands and feet, and punctuate keratoses on the palms and soles. A mutation in the ATP2A2 gene has been shown to be associated with AKV and with Darier's disease (DD).
To explore the molecular aetiology of AKV and DD.
We investigated the clinical and histological information in two families and a sporadic case with AKV and one family and a sporadic case with DD in China. Mutation analysis of ATP2A2 was performed by PCR and direct sequencing, and genotyping and linkage analysis performed using six polymorphic microsatellite markers spanning the locus at 12q23-12q24 containing ATP2A2.
Mutational analysis showed no mutation in ATP2A2 among the AKV patients, but we found two novel mutations (p.C318F and p.M719fs) in the DD patients. The genotyping and linkage analysis results revealed no linkage evidence of the locus at 12q23-12q24 in a large AKV family.
Our findings provide evidence for the genetic heterogeneity of AKV and demonstrate that mutations in genes other than ATP2A2 are responsible for AKV in a proportion of the Chinese population.
Clinical and Experimental Dermatology 08/2006; 31(4):558-63. · 1.20 Impact Factor
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ABSTRACT: Very few articles have aimed to illuminate the clinical profiles of vitiligo in China. We conducted this retrospective survey involving 4118 outpatients with vitiligo in order to identify the differences among various clinical types of vitiligo and their associated disorders. Completed questionnaires (3742) were validated and analysed. Of this large cohort, 1565 (41.8%) individuals presented vitiligo vulgaris, followed by focal, segmental, acrofacial, and universal, in that order. The mean age of vitiligo onset was 18.88 years. More than 60% of the patients were affected before 20 years of age. Patients with segmental vitiligo were affected earlier than those with other types of vitiligo (15.55 years; (P < 0.001). More than 74% of the patients presented with focal vitiligo at onset. After 3-5 years, 99% of active vitiligo was worse and shifted from one clinical type to another. However, there was no transformation between acrofacial vitiligo and segmental vitiligo. Compared with the general population, the patients with vitiligo were more likely to be affected by rheumatoid arthritis (P < 0.01), ichthyosis (P < 0.01), chronic urticaria (P < 0.01), or alopecia areata (P < 0.01).
Clinical and Experimental Dermatology 07/2005; 30(4):327-31. · 1.20 Impact Factor
