Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To perform molecular diagnosis for a Chinese pedigree with osteogenesis imperfecta type I.</p><p><b>METHODS</b>Thirty pairs of primers were designed to amplify all the 52 exons, exon boundaries and promoter region of the COL1A1 gene from genomic DNA of peripheral blood cells of the family members. The PCR products were purified and directly sequenced. To check the mutation in normal controls, the genomic DNA from peripheral blood cells of the index patient, his mother and 60 normal controls were analyzed by amplification refractory mutation system.</p><p><b>RESULTS</b>A missense mutation of GAT>CAT was identified at codon 1441 of the COL1A1 gene from the family, which resulted in the replacement of aspartic acid by histidine (D1441H). This mutation was not found in a group of 60 normal controls.</p><p><b>CONCLUSION</b>The method for molecular diagnosis of osteogenesis imperfecta was established and a novel COL1A1 gene mutation, D1441H, was identified in the Chinese pedigree with osteogenesis imperfecta type I.</p>

Review criteria for action following automated complete blood count and differential count analysis / 中华检验医学杂志

As there is widely application in clinical diagnosis and treatment with complete blood count(CBC)and differential count(DC),the experts of clinical hematology laboratory in the word have paid highly attention to the review of CBC and DC.In this paper,we would like to have an introduction for the suggested criteria for action following automated CBC and WBC differential analysis obtained from The International Consensus Group for Hematology Review and Clinical and Laboratory Standards Institute (CLSI).