Study of the association between HLA-DQA1 alleles and environmental factors in psoriasis / 中华流行病学杂志

<p><b>OBJECTIVE</b>To study of the HLA-DQA(1) alleles and environment interaction in type I psoriasis.</p><p><b>METHODS</b>Using case-control study, 144 type I psoriatics and 273 healthy people were investigated. The HLA-DQA(1) alleles were examined by PCR-SSP.</p><p><b>RESULTS</b>(1) HLA-DQA(1)*0104 and DQA(1)*0201 alleles were positively associated with type I psoriasis (P(c) < 0.002); HLA-DQA(1)*0501 allele was negatively associated with type I psoriasis (P(c) < 0.000 5). (2) The HLA-DQA(1)*0104 allele and moisture was interaction in type I psoriasis (P = 0.023 8, OR = 5.29). (3) There were no interactions between the HLA-DQA(1)*0201 allele and 10 environmental factors in type I psoriasis. (4) The HLA-DQA(1)*0501 allele, moisture (P = 0.002 4, OR = 7.50), eating fish and shrimp (P = 0.000 4, OR = 12.92), drugs (P = 0.043 3, OR = 9.43) or vaccination (P = 0.043 3, OR = 9.43) were interacted in type I psoriasis.</p><p><b>CONCLUSIONS</b>(1) HLA-DQA(1)*0104 and DQA(1)*0201 alleles might be the susceptible genes or it may have close linkage with the susceptible gene. HLA-DQA(1)*0501 allele had protective effect against the development of type I psoriasis. (2) The HLA-DQA(1)*0104 and DQA(1)*0501 alleles increased risk possibility of environmental factors in type I psoriasis.</p>

Transglutaminase 1 gene mutations in a family with lamellar ichthyosis / 中华皮肤科杂志

Objective To detect the mutations of transglutaminase 1 (TGM1) gene in a family with lamellar ichthyosis. Methods The genomic DNA was extracted from the proband and his family members. All the encoding exons and adjacent splice sites of TGM1 gene were amplified by PCR. Mutation scanning was carried out via direct bi-directional DNA sequencing. Also the homology of TGM1 was analyzed. Results In the proband, there was a C504T mutation located at codon 142 (R142C) in exon 3 of TGM1 gene, and a nonsense mutation of C1122T located in exon 7, which caused a premature termination of R348X and a defective polypeptide truncated by 470 amino acids in C-terminus. A heterozygote of C504T mutation was carried by the proband′s father and a heterozygote of C1122T mutation in the proband′s mother. The missense mutation of R142C was found at the conservation region of TGM1 gene. Conclusion The mutations of R142C and R348X in TGM1 gene are present in the patient with lamellar ichthyosis.

The mutation of GJB2 gene in keratitis-ichthyosis-deafness syndrome / 中华皮肤科杂志

Objective To detect the mutations of GJB2 and GJB6 genes in the first Chinese case of keratitis, ichthyosis and deafness (KID) syndrome. Methods Genomic DNA was extracted from the patient with KID syndrome and his family members. All encoding exons and adjacent splice sites of the GJB2 and GJB6 genes were amplified by PCR. Mutation scanning was carried out by direct bidirectional DNA sequencing. Results No mutation was found in GJB6. A G148A mutation was found at exon2 of GJB2 in the patient, which caused a change from aspartic acid to asparagine at codon 50(D50N). Conclusion This case of KID syndrome may be caused by the mutation in GJB2.

The Association of HLA-DQA1 and DQB1 Alleles with Genetic Susceptibility to Psoriasis Vulgaris in Han Chinese / 中华皮肤科杂志

Objective To explore HLA-DQA1 and DQB1 alleles in their association with genetic susceptibility to psoriasis vulgaris(PV) in Han Chinese. Method Polymerase chain reaction sequence specific primers (PCR-SSP) method was used to analyze the frequencies of HLA-DQA1 and DQB1 alleles among 189 patients with PV and 273 healthy controls. Results ①HLA-DQA1*0104 and DQA1*0201 alleles were positively associated with PV (Pc