Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect FLG gene mutations in 10 families affected with ichthyosis vulgaris and to explore mutational hot spot of the FLG gene in Chinese Han population.</p><p><b>METHODS</b>PCR and direct sequencing were carried out to identify potential mutations of the FLG gene in above families. One hundred healthy individuals were analyzed as normal controls.</p><p><b>RESULTS</b>Three mutations (3321delA, 5757delCCAG and S2706X) were identified in 7 families. A homozygous mutation 3321delA was also detected in two unrelated patients. No mutations were found in the remaining three families. Neither of the null mutations (5757delCCAG and S2706X) was found in the 100 controls. However, for 3321delA, a heterozygous mutation was also found in two of the controls.</p><p><b>CONCLUSION</b>Three FLG mutations have been identified in the selected families with ichthyosis vulgaris, and the 3321delA mutation was most prevalent (46.9%). Mutations 5757delCCAG and S2706X were first found in patients with ichthyosis vulgaris. Other candidate genes may underlie the disease in those without a FLG mutation.</p>

MicroRNA expression in murine skin at different stages of hair cycle: a preliminary study / 中华皮肤科杂志

Objective To screen differentially expressed microRNAs at different stages of hair cycle in a murine model.Methods This study included 30 inbred female C57BL/6 mice (age,6-8 weeks; body weight,15-18 grams).Hair growth cycle was induced in the back skin of C57BL/6 mice by application of wax/rosin followed by depilation under anesthesia witl 1％ chloral hydrate.Three mice were sacrificed by cervical dislocation on day 0,8 and 20 after the induction,and skin tissue was achieved from the same depilated areas parallel to the spine.Total RNAs were extracted from the murine skin and subjected to microarray analysis of microRNA expression.Results Compared with telogen skin,the murine anagen skin showed a higher expression of miR-690,obselote-49 and miR-1308,but a lower expression of miR-291a-5p and miR-212.The expressions of miR-690,obselote-49 and miR-31 were significantly up-regulated,while those of miR-127-3p and miR-212 were downregulated in the catagen skin in comparison with the telogen skin.Conclusion Seven microRNAs are identified in this study to be differentially expressed in murine skin between different stages of hair cycle,which may provide a direction for future research.

An incontinentia pigmenti family with deletion in both NEMO gene and pseudogene DeltaNEMO / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the genomic deletion mutation in the NEMO gene of a family with incontinentia pigmenti (IP; MIM 308310).</p><p><b>METHODS</b>A pedigree of IP was investigated. By using long PCR, the Delta4-10 deletion in NEMO gene was tested with specific primers In2/JF3R, and Delta4-10 deletion in pseudogene DeltaNEMO was investigated with primers Rev-2/JF3R. NEMO gene of 80 normal controls was also tested.</p><p><b>RESULTS</b>The deletion of exons 4-10 in both NEMO gene and the pseudogene DeltaNEMO was detected in all the patients in the family, but was not found in the normal individuals in this IP family and 80 unrelated controls.</p><p><b>CONCLUSION</b>The study showed that the family with IP, which showed anticipation, was caused by NEMODelta4-10 deletion in the NEMO gene. Long PCR analysis is proven to be an efficient tool for identification of NEMO rearrangements. It could provide useful information for the genetic counseling of the family involved.</p>

Chlamydia trachomatis and Ureaplasma urealyticum in 320 Patients with Nongonococcal Urethritis: Analysis of the Detecting Result / 中华医院感染学杂志

OBJECTIVE To investigate infection of Chlamydia trachomatis(CT) and Ureaplasma urealyticum(Uu) in patients with nongonococcal urethritis(NGU). METHODS C.trachomatis was determined by fast immune method of antigen-antibody.U.urealyticum was detected by liquid culture medium. RESULTS Among 320 cases the positive rate of C.trachomatis,and U.urealyticum was 36.25% and 43.75%,respectively.and that of complicated infection was 20.00%.There were significant differences between men and women in C.trachomatis and U.urealyticum infection(P