Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.

The aim of this study was to investigate the usefulness of targeted high-throughput sequencing (HTS) for the molecular diagnosis of primary immunodeficiency diseases (PID).A total of 56 clinically diagnosed or suspected PID patients were divided into 4 groups according to the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 and their chief clinical presentations. Patients and their biological family members were examined by targeted HTS, which sequenced the exons and ±10 bp flanking introns of 171 PID-related genes panel.

[Gene Mutation and Acute Leukemia Transformation of Severe Congenital Neutropenia- Review].

Severe congenital neutropenia (SCN) is a rare disease of bone marrow failure. Absolute value of peripheral blood neutrophil of SCN significantly reduced. SCN has a high risk of transformation to myelodysplastic syndromes (MDS) / acute myeloid leukemia (AML).

[Study on differentiation of mesenchymal stem cells derived from human umbilical cord blood into insulin secreting cells].

Objective: To investigate the differential potential of mesenchymal stem cells (MSCs) derived from human umbilical cord blood (hUCB) into insulin-secreting cells and its inducing condition.

Methods: UCB nucleated cells (NCs) were isolated and cultured in Mesencult media. The obtained UCB MSC were purified by adherence method and expanded.

[Expression of lung resistance protein and multidrug resistance protein genes in bone marrow cells of acute leukemia patients and its clinical significance].

To study the expression of lung resistance protein (LRP) and multidrug resistance protein (MRP) genes in bone marrow cells in patients with acute leukemia and its clinical significance, expression of LRP and MRP mRNA in bone marrow cells from 47 cases of acute leukemia, including 10 refractory or relapsed cases, and 7 normal individuals were determined by semi-quantitative reverse transcription polymerase chain reaction (RT-PCR). The result s showed that expression of LRP gene was negative in normal individuals. LRP mRNA level in newly treated cases of acute myelocytic leukemia and refractory or relapsed cases was significantly higher than that in normal individuals, increased LRP mRNA level has correlation with lower sensitivity to initial chemotherapy and was associated with reduced overall survival rate.

[Expression of nm23-H(1) mRNA in Bone Marrow Cells from Patients with Myelodysplastic Syndrome and Its Clinical Implication].

The purpose of this investigation was to explore the expression of nm23-H(1) gene in patients with myelodysplastic syndrome (MDS) and evaluate the relationship between nm23-H(1) expression and therapeutic outcomes. Semi-quantitative RT-PCR was used to detect the expression of nm23-H(1) mRNA in marrow mononuclear cells from 28 MDS patients and 15 normal subjects. nm23-H(1)/GAPDH ratio >/= 0.