| Part I Hereditary gingival fibromatosis Case Report and Detection of SOS-1 gene exon 21 mutation in the family of HGFObjective:Diagnosis, analysis and treatment of one HGF(hereditary gingival fibromatosis) patient in our province. To screen SOS-1 gene mutation in a HGF family with four generations,analyze the associaltion of the alternation of SOS-1 gene exon 21 sequence and find the type of mutation, analysis of the change and HGF pathogenesis.Materials and Methods:1. Family members: 2. CaseMale,10 years old, Han (â…¢-4), patients gingival hyperplasia began from 1 year old, and gradually increased with age, in October 2007 he came to our hospital with the gums spherical protruding in the patients. No obvious bleeding gums and tooth pain. Gingival hyperplasia with smooth surface, hard texture, color in normal gingival, no bleeding on probing, no loose teeth. Treatment:Periodontal treatment, within six months of local anesthesia in installments line anterior, left posterior area gingival hyperplasia gingival tissue resection, and remove the retained deciduous teeth, treated with periodontal dressing after operation. Rinse with compound chlorhexidine three times/day in a week.3. taking 10 family members of HGF peripheralGenomic DNA was extracted from 10ml of whole blood of followed 9 family members:â… -1,â… -2;,â…¡-1,â…¡-3,â…¡-5,â…¡-7,â…¡-8,â…¡-9,â…¢-4 andâ…¢-5.As the control, genomic DNA was also extracted from 10ml of whole blood of 1 normal individuals.1 A.4. According to the corresponding references,1 pair of PCR primer was designed, that is exon21 of SOS-1 gene.5. Three patients in the HGF family (â… -2,â…¡-7,) were under detection. The DNA samples were amplified by PCR primers and the products were sequence.Results:1. One week after surgeryâ…¢-4 was removed periodontal dressings, the white fibrous membrane was covering the wound, no infection, good recovery and restore gingival contour. With 1 month,3 months,6 months, one year follow-up, showed no recurrence. His pronunciation was more articulating than before. However, irregular arrangement of teeth, more casual space in the teeth, malocclusion, so he was transferred to the orthodontics consultation to do further treatment. Light microscope after pathological see:a slight thickening of gingival keratinized epithelium, epithelial spikes extended subepithelial dense connective tissue collagen fibers arranged in bundles of coarse, there are few capillaries and inflammatory cell infiltration. Pathological findings confirm to the general characteristics of HGF.2. There was no mutation found in SOS-1 exon21 by sequencing of the PCR products from three patients.Conclusion:1. There have been no mutation found at exon21 SOS-1 in this HGF family.2. It is necessary to process the study of diagnosis of SOS-1 gene by STR linkage analysis in this HGF family.3. The patients and their families can be diagnosed with hereditary gingival fibromatosis.1 patients with surgical treatment had excellent recovery after,and there was no recurrence.Partâ…¡The study of diagnosis of SOS-1 gene by STR linkage analysis in this HGF familyObjective:To detect STR polymorphic marker highly linked to mutated SOS-1 gene in the HGF family.Methods:1. Family data was the same as section one.2. Genomic DNA was extracted from 10ml of whole blood of followed 9 family members:â… -1,â… -2;,â…¡-1,â…¡-3,â…¡-5,â…¡-7,â…¡-8,â…¡-9,â…¢-4 andâ…¡-5.3. Six highly polymorphic markers D2S1346, D2S2220, D2S2331, D2S2238, D2S2328 and D2S2739 were amplified by PCR.4. The PCR products were separated on 8%polyacrylamid gel for 4hours and silver stained.5. The PCR products of D2S1346 were named as A1, A2, A3. The PCR products of D2S2220 were named a B1, B2, B3. The PCR products D2S2331 were named a C1, C2, C3. The PCR products D2S2238 were named a D1, D2, D3. The PCR products D2S2328were named a E1, E2, E3. The PCR products D2S2739were named a F1, F2. They were all accorded to electrophoresis velocity.Results:The genotypes of four clinical HGF patients are A1B1C1D1E1F1/A3B1C1D1E1F2, A1B1C1D1E1F1/A2B1C1D3E2F2, A1B1C1D1E1F1/A3B1C1D1E1F2 and A1B1C1D1E1F2/ A3B1C1D1E1F2. A normal member(â…¢-4)of this HGF family also share the same halpotype of A1B1C1D1E1F2, while another patient in this HGF family has the haplotype ofA1B1C1D1E1F1.Conclusion:1. A1B1C1D1E1F1haplotype of STR loci D2S2328, D2S2238, D2S2331, D2S1346, D2S2220 and D2S2739 is not highly linked to the mutated SOS-1gene in this HGF family.2. Exclusion of linkage in this family to the known HGF loci SOS-1 proved the existence of another locus for this autosomal dominant HGF.
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