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The Relation between Clinical and Genic Analysis of Agammaglobulinemia and Chronic Granulomatous Disease

Author: YangXiaoXu
Tutor: NongGuangMin
School: Guangxi Medical University
Course: Pediatric respiratory immune
Keywords: No X-linked agammaglobulinemia Bruton's tyrosine kinase BTK gene diagnosis Chronic granulomatous disease CYBB gene NADPH oxidase Genetic diagnosis
CLC: R725.5
Type: Master's thesis
Year: 2011
Downloads: 31
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Abstract


The first part of the 5 cases of congenital agammaglobulinemia without clinical features and genetic analysis of pedigree BTK Objective: To investigate Guangxi 5 cases of congenital agammaglobulinemia patients without clinical features of their family and Bruton's tyrosine kinase ( BTK) gene relationships and BTK gene mutations. Methods: 2005 ~ 2010 in our hospital diagnosed as clinically the five XLA patients, using the traditional method of separation of peripheral blood lymphocytes after extracting RNA, reverse transcription to obtain cDNA, and the extraction of children gDNA, mutant information Results PCR products were sequenced to obtain; while collecting their relevant clinical data to clinical phenotype and genotype were analyzed. Results: The clinical characteristics of Results: 5 patients were male, the clinical manifestations are present recurrent infections, mainly respiratory tract infections, four cases of non-pharyngeal tonsil, three cases of complications associated with arthritis, the disease can cause growth retardation in children and malnutrition; 5 patients immunoglobulin, CD19 percentages are significantly reduced. Genetic test results: 1 patient BTK exons and splice sites were normal, I 4 cases BTK gene mutations are present, including two cases of genetic analysis for the new mutation, mutation type is no new loci missense mutation (1402 C gt; T, 1344 delC) 2 cases have been reported hnRNA splice site mutation (IVS17-2A gt; G) 1 examples and frameshift mutations (1713-1716del TTTG) 1 cases, 4 cases of mutations are located in the tyrosine kinases (tyrosine kinase, TK) area. Conclusion: ⑴ The study found two cases of XLA unreported new mutations, are nonsense mutations; 4 cases XLA children BTK gene mutations are located in the TK area. ⑵ XLA severity of clinical symptoms, arthritis complications associated with mutations in the coding region of BTK gene loci, there is a certain relationship between the types, but less than normal number of patients in this group, needs further study. The second part of the two cases the clinical features of chronic granulomatous disease and CYBB gene analysis Objective: To investigate Guangxi two cases of chronic granulomatous disease (CGD) patients with clinical features and their family relationships and CYBB CYBB gene mutation type. Methods: 2005 ~ 2010 in our hospital clinically diagnosed cases of children as CGD 2 clinical data and analysis; simultaneous acquisition outer peripheral blood extraction in children and related maternal relatives gDNA, using polymerase chain reaction (PCR ) amplification CYBB-DNA 13 exons, mutations Information Results PCR products were sequenced to obtain. Results: The clinical features of the results: two cases were male, peripheral immune cells parting T, B cell counts are normal, elevated serum immunoglobulin levels, flow cytometry experiments NAPDH respiratory burst oxidase activity were reduced. Genetic test results: 1 case CYBB gene mutations locus for unreported new mutations, missense mutation type (1296 G gt; T) in NADPH area; 1 case CYBB gene showed no abnormalities. Conclusion: This study found a case of new missense mutation in the NADPH binding sites, Exon10, G412V.

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