Mutation analysis of KRT10 gene in a patient with bullous congenital ichthyosiform erythroderma / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the gene mutation in one sporadic case of bullous congenital ichthyosiform erythroderma (BCIE), and to explore the relationship between the genotype and phenotype.</p><p><b>METHODS</b>DNA was extracted from the blood samples of the patient with BCIE, unaffected members of the pedigree, and 50 unrelated healthy controls. PCR was used to amplify the hot spot fragment of keratin 1 (KRT1) and keratin 10 (KRT10) gene. The PCR products were directly sequenced to detect the mutations.</p><p><b>RESULTS</b>A heterozygous 467G>A mutation was found in the patient, resulting in the substitution of arginine (R) by histidine (H) in codon 156 (R156H) in the 1A domain of the KRT10 protein but not in the healthy individuals from the family and the 50 unrelated individuals.</p><p><b>CONCLUSION</b>The mutation of 467G>A in exon 1 of KRT10 gene identified may play a major role in the pathogenic mechanism of this case of BCIE.</p>

Keratin 17 mutation in pachyonychia congenita type 2 in a Chinese Han family / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the keratin 17 gene (KRT17) mutation in a pedigree with pachyonychia congenita type 2 (PC-II).</p><p><b>METHODS</b>DNA was extracted from the blood samples of the patients, unaffected members of the pedigree, and 100 unrelated healthy controls. PCR was performed to amplify the hot spots in KRT17 gene. PCR products were directly sequenced to detect mutation.</p><p><b>RESULTS</b>A heterozygous 296T-->C mutation was found in all the affected members of this family, which resulted in the substitution of leucine by proline in codon 99 (L99P) in the 1A domain of the KRT17, but not in the healthy individuals from the family and the 100 unrelated controls.</p><p><b>CONCLUSION</b>The mutation of KRT17 may play a major role in the pathogenesis of this pedigree with pachyonychia congenita type 2.</p>

A comparative study on the prevalence of osteoarthritis in middle and old-aged people from the urban and the rural area in Heilongjiang province / 中华流行病学杂志

Objective To investigate the prevalence of osteoarthritis in inhabitants aged 40 years old and above from urban and rural areas in Heilongjiang province. Methods Through multistage stratified cluster random sampling methods, residents aged 40 years and above were selected. All subjects were given a standardized questionnaire and were conducted a radiographic examination on hands, knees, neck spine and lumbar spine after informed consent. All statistics were performed by SPSS13.0. Results A total of 1196 residents were surveyed, which including 573 males and 623 female subjects. The prevalence of osteoarthritis in cervical spine, lumbar spine, knee and hand for men were 26.00%, 31.20%, 11.87%, 15.53%, respectively and that were 34.80%, 30.20%, 20.06%, 27.93% for women respectively. The prevalence of osteoarthritis increased with aging both in men and women. Prevalence in 60-70 age group achieved the peak. The prevalence rates became relatively low among those over the 70 years old than expected. The most common sites of osteoarthritis were knees and hands (16.10%), followed by cervical and lumbar spine (12.40%).Conclusion The prevalence of osteoarthritis was generally high in middle and old-aged people in Heilongjiang province.