Genotyping of Patients with α and β Thalassemia in Fujian Province Area in China / 中国实验血液学杂志

OBJECTIVE@#To investigate the gene-carrying rate and gene mutation types of α- and β-thalassemia in population of Fujian area and to analyze the differences in hemoglobin A2 (HbA2), mean cell volume (MCV) and mean cell hemoglobin (MCH) between different types of thalassemia, so as to provide the reference basis for screening and classification, genetic diagnosis and counseling about thalassemia.@*METHODS@#Total 1474 samples from different areas of Fujian province were detected for α- and β-thalassemsia genotypes by gap single PCR (GS-PCR) combined with reverse dot blot hybridization (RDB). The detection of peripheral RBC, hemoglobin and primary screening of thalassemia in each set of sample were carried out before test.@*RESULTS@#Among the detected 1474 samples, 704 (47.76%) were diagnosed as α-thalassemia, out of them 416 (28.22%) were diagnosed as α-thalassemia, 267(18.11%) as β-thalassemia, 21 (1.43%) as αβ-thalassemia. The α-thalassemia further was divide into 3 types: silent (5.09%), minor (22.18%) and HbH disease (0.95%), and their MCV, MCH and HbA2 levels were detected. The detection results showed obvious decrease trend with significant difference (P＜0.05).@*CONCLUSION@#The gene mutation types of thalassemia display obvious heterogenity in Fujian area. The gene type in α-thalassemia mostly is --/αα, the gene type in β-thalassemia mostly is IVS-Ⅱ-654. Moreover, the sings of anemia in Hb H disease of α-thalassemia are mostly serious, which obviously are different from other types of α-thalassemia.

Effect of atopy on serum glucocorticoid receptor levels in children with bronchiolitis / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the effect of atopy on the expression of glucocorticoid receptors in children with bronchiolitis.</p><p><b>METHODS</b>ELISA was used to measure the changes in the serum levels of glucocorticoid receptor α (GRα) and glucocorticoid receptor β (GRβ) in the bronchiolitis group (77 children, including 34 children with atopy) and pneumonia group (68 children). Thirty-eight children who were prepared to undergo surgeries for non-infectious diseases and had no atopy or family history of allergic diseases were enrolled as the control group.</p><p><b>RESULTS</b>The bronchiolitis group and the pneumonia group had significant increases in the serum levels of GRα and GRβ compared with the control group (P<0.01), and the bronchiolitis group had significant increases in these levels compared with the pneumonia group (P<0.01). Compared with the control group and the pneumonia group, the bronchiolitis group had a significant increase in the GRα/GRβ ratio (P<0.01). Compared with the control group, the children with or without atopy in the bronchiolitis group had significant increases in the serum levels of GRα and GRβ (P<0.01). The non-atopic children in the bronchiolitis group had a significant increase in the serum level of GRβ compared with the atopic children (P<0.01). The atopic children in the bronchiolitis group had a significant increase in the GRα/GRβ ratio compared with the control group and non-atopic children in the bronchiolitis group (P<0.01).</p><p><b>CONCLUSIONS</b>Children with bronchiolitis have increased serum levels of GRα and GRβ. The children with atopy have an increased GRα/GRβ ratio, suggesting that the atopic children with bronchiolitis are highly sensitive to glucocorticoids.</p>

Determination and clinical significance of serum surfactant proteins A and D in children with bronchiolitis / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the variation and clinical significance of serum levels of surfactant proteins A (SP-A) and D (SP-D) among children with different degrees of bronchiolitis.</p><p><b>METHODS</b>Seventy children with bronchiolitis were divided into acute (n=42) and recovery phase groups (n=28). According to the severity of symptoms, the acute phase group was further divided into severe (n=12) and mild subgroups (n=30). Another 26 children who were hospitalized in the same period due to non-infectious diseases and had not undergone surgery were used as the control group. Competitive enzyme-linked immunosorbent assay was performed to measure serum levels of SP-A and SP-D in each group.</p><p><b>RESULTS</b>The acute phase group had significantly higher serum levels of SP-A and SP-D compared with the recovery phase (P<0.01) and control groups (P<0.01). Compared with the control group, the recovery phase group had elevated levels of SP-A and SP-D (P<0.01). Within the acute phase group, serum levels of SP-A and SP-D in the severe subgroup were significantly higher than in the mild subgroup (P<0.01).</p><p><b>CONCLUSIONS</b>Serum levels of SP-A and SP-D are significantly elevated in children with acute bronchiolitis, and severe cases have higher serum levels of SP-A and SP-D than mild cases. Even after the relief of clinical symptoms, serum levels of SP-A and SP-D remain high. These findings suggest that serum levels of SP-A and SP-D might be useful biomarkers for evaluating the severity of bronchiolitis among children.</p>

Study on the distribution of vitamin D receptor gene start codon polymorphism in the Achangs and Hans / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the difference between the Chinese Achang and Han ethnic groups in Yunnan province in the distribution of vitamin D receptor (VDR) gene start codon polymorphism.</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism, gene sequencing and genetic analysis methods were used. A restriction fragment length polymorphism in the start codon of VDR (Fok I) gene was tested in the Achangs (n=68) and the Hans (n=92).</p><p><b>RESULTS</b>The frequencies of FF, Ff and ff genotypes were found to be 18%, 35% and 47% in the Achangs, and 22%, 52% and 26% in the Hans, respectively. A significant difference was seen in the frequency distribution of VDR genotype between the Achangs and the Hans(Chi2=7.716, P=0.021).</p><p><b>CONCLUSION</b>The Achang and Han ethnic groups differ in the frequency distribution of VDR gene start codon polymorphism.</p>