Linkage analysis of skeletal mandibular prognathism in Japanese

2006 Fiscal Year Final Research Report Summary

• Project/Area Number: 17592108
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Surgical dentistry
• Research Institution: Tokyo Dental College
• Principal Investigator: UCHIYAMA Takeshi Tokyo Dental College, Dentistry, Professor, 歯学部, 教授 (40085874)
• Co-Investigator(Kenkyū-buntansha): SUGA Kenichiro Tokyo Dental College, Dentistry, Instructor, 歯学部, 講師 (80246339) ; IKUMOTO Hideyuki Tokyo Dental College, Dentistry, Assistant, 歯学部, 助手 (50349528) ; YOSHIURA Ko-ichiro Nagasaki University, Graduate School of Biomedical Sciences, Assistant professor, 医歯薬学総合研究科, 助教授 (00304931)
• Project Period (FY): 2005 – 2006
• Keywords: Japanese / Mandibular prognathism / Gene / Linkage analysis

Research Abstract

Mandibular prognathism is a disorder to show jaw malformation. The disease does not accept jaw malformation at birth, but be categorized as abnormality of development in puberty because malformation becomes remarkable. A cause of mandibular prognathism is not clear. But there is many that it is seen in familial, and it is clear that a genetic factor strongly contributes to family system from the fact that it lasts for several generations, and the disease is recognized like a person of European royal families Hapsburg. However, there are a few reports that reviewed the disease hereditarily, and analysis study with a gene level of mandibular prognathism is not elucidated in the world at all either. An aim of this study does genome-wide linkage search with a family obeying autosomal-dominant inheritance as much as possible, and it is to elucidate gene loci becoming causal of mandibular prognathism.
Subject of study were nineteen members of two mandibular prognathism families in Japanese who had collected at the Tokyo Dental College Hospital. The study protocol was approved by the Tokyo Dental College Institutional Review Board, and informed consent was obtained from all family members. After informed consent, Genomic DNA of nineteen members of two mandibular prognathism families were isolated from peripheral venous blood samples by standard techniques. Linkage analysis was performed by using microsatellite markers (ABI PRISM Linkage mapping set v2.5).
In result, linkage was recognized in nineteen members of two mandibular prognathism families because LOD score 1.75 was accepted into 10,13,16 autosomal chromosomes.
In future, we will increase the number of the family samples, and perform supplementary tests and mutation analysis at 10.13.16 autosomal chromosomes.