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A Novel Mutation of Gene Runx2 in Chinese Patients with Delayed Tooth Eruption

Author: SuWenQiang
Tutor: WangXiaoJing
School: Fourth Military Medical University
Course: Clinical Stomatology
Keywords: Delayed tooth eruption Skull clavicle hypoplasia Runx2 Gene mutation
CLC: R781.2
Type: Master's thesis
Year: 2010
Downloads: 29
Quote: 0
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Abstract


Tooth too late, also known as the the permanent teeth Chi Meng, can occur in individual patients with most, if not all of the permanent teeth. Permanent teeth late sprouting affects the patient's chewing, pronunciation, beautiful, and will even create a psychological burden in patients with significantly hindering the patient's physical and mental health, affect the patient's quality of life. Most permanent teeth Chi Meng disease related factors, including local, systemic and genetic factors, there are also reported cases of idiopathic. Local factors have more teeth, mucosal barrier and deciduous teeth trauma, systemic factors including nutritional deficiencies, endocrine / metabolic abnormalities. All of the above factors, endocrine / metabolic abnormalities and genetic abnormalities are more common in the gene, while the CCD is the most common abnormality in the majority of permanent teeth late sprouting. CCD is a hereditary skeletal diseases, there are sporadic cases reported. The typical clinical manifestations include delay the anterior fontanelle closed or not closed clavicle dysplasia and permanent teeth late sprouting more teeth. The study found the the Runx2 gene for CCD causative gene. However, the current permanent teeth pathogenesis, including Runx2 mutations associated with CCD incidence basic results of foreign researchers, few domestic research. In this study, two cases of permanent teeth in patients with late sprouting. After the first visit, clinical examination and consultation to collect pedigree information, summary of the analysis after the initial diagnosis may CCD; selected on the basis of Runx2 gene to detect whether the mutation incidence to confirm the diagnosis and to further elucidate the genetic mutations with CCD provide experimental basis. The first part of the experiment: the clinical study of the permanent teeth late sprouting main method of clinical collect the two cases of permanent teeth late Meng patients. Through history, systemic examination, oral examination, family survey and preliminary clinical data. According to information obtained further choice examination methods and laboratory tests, the former includes X-ray, CT scan, the latter including trace elements, calcium / phosphorus, ALP checks. 2 cases of the major findings of a figure short, most of the permanent teeth Chi Meng, anti-together, and a family history. X-ray examination revealed anterior fontanelle closure delay clavicle hypoplasia. Chi Meng cases two full mouth of permanent teeth, and deciduous teeth late Moe history, buccal mucosa symmetry pigmentation the the jaw symmetry hyperostosis hands congenital joint contractures, ALP value is slightly higher than normal, and no family history. 3 cases of the main conclusions of the performance for the majority of permanent teeth late sprouting teeth, multi family history with CCD typical clinical manifestations, clinical diagnosis of the CCD. Case two showed a full mouth of permanent teeth late sprouting, no family history, but also other parts of the abnormalities in the oral surgery, based on history and examination to exclude most of the local factors and endocrine / metabolic abnormalities, initially suspected as genetic abnormalities cause, considering the CCD. The part of the two patients, the preliminary examination and diagnosis, and to lay the foundation for the subsequent experiments. The second part of the experiment: the permanent teeth the Chi Meng patients Runx2 gene mutation detection peripheral venous blood in patients and their parents of a main method to take each 2 ml of genomic DNA was extracted. Reference the GeneBank database Runx2 gene primers were designed, was amplified by PCR Runx2 exon, then the molecular cloning of PCR products, plasmids were extracted and sequenced. 2 of the main results of sequencing results show the Runx2 gene Exon1 in case exists a point mutation. Case II Runx2 did not find the mutation site. 3 cases of the main conclusions the Runx2 gene mutation was found in sites, further confirmed the clinical diagnosis of CCD, and lay the foundation for the follow-up treatment, and further study of the relationship between Runx2 and CCD. The cases of two patients showed full mouth of permanent teeth Chi Meng, very special. Runx2 gene is not unusual. Consider may be associated with other genetic factors, or other symptoms in patients with systemic oral symptoms not related to delayed tooth eruption by local factors caused or idiopathic cases, need further analysis and research.

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