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KMID : 0367220000170010035
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Sejong Medical Journal
2000 Volume.17 No. 1 p.35 ~ p.44
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Deletion mapping of chromosome 22q11 in patient with CATCH22 syndrome using somatic hybrid cells
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Abstract
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Deletion within the human chromosome 22g11 causes a variety of malformations. Common defect is remembered using the acronym CATCH22(cardiac defects, abnormal face, thymic hypoplasia, cleft palate and hypocalcemia. resulting from deletion of a part of chromosome 22). The most practical method of -genetic diagnosis is fluorescent in-situ hybridization of metaphase chromosome (FISH), but diagnostic problems still exists. We established a new scheme of genetic diagnostic procedure to detect the range of genetic defect. Lymphocytes from a patient is cuicured and a cell line is established. FISH studies using D22S75(Oncor, USA) and control probe (22g13.3) are applied to prove the genetic defect. Thirty nine hybrid cell clones containing human chromosome 22 are made by somatic cell fusion technic between human lymphocyte and mouse fibroblast cell. Polymerase chain reaction (PCR) analysis of clones using D22S1171 probe was applied. This probe detects the presence of hun tan chromosome 22 in the cell lines. Among 39 clones, eight have amplified PCR product. PCR analysis using D22S941 probe. which encodes the frequently deleted region of human chromosome 22, was applied for eight clones. Absence of PCR
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