Development Of Database Management System For Genomewide Scan And Statistical Genetic Analysis Of Stature

In order to hunt for genes underlying complex traits/diseases, such as stature, osteoporosis, schizophrenia, asthma, or diabetes, a genomewide scan is necessary and often conducted. However, it' s been regarded as a bottleneck to efficiently manage thounsands of data from genomewide scan. By far, there are few studies engaged in this way while some available database management software for Statisteal Genetical research such as PEDSYS, LINKBASE and GenoDB are in geat need of improvement. Based on some previous work on database management software for Statistcal Genetics and our direct communication with potential users/ Statistcal Genetical researchers, we devoleped a more powerful database management system (DBMS) for genomewide scan. The whole process is under the principle of object-oriented software engineer, where unified modeling language is adopted to design models. Datatbase model is Entity-relation model and implement language is Java 2 Platform, Enterprise Edition (J2EE). The system comprises three subsystems with regard . to management of microsatellite, single nucleotide polymorphisms (SNP) and phenotype traits respectively. Its significant features are as follows: 1)accommodate the dynamic nature of the accumulations of genotype data during the genotyping process; 2)automatically compare inconsistency of experimental data by different technicians from the same gel; 3)track electrophoresis gel files to locate gel or sample sources for any resultant genotype data; 4)efficiently manage phenotype traits with Entity -Atrribute -Value model; 5)provide careful mechanisms for quality control of phenotype and genotype data; 6)export data with a lot of format for various purpose; 7)connect with many a popular and powerful databaseserver and offer powerful functions for communcation through network. All work of development has been accomplished and the subsystem SNP DBMS has been published on Internet.Adult height (stature), as a complex quantitative trait, has been studied in different populations. However, few genetic studies on height were performed in Chinese, the largest population in the world. In this study, familial correlation and segregation analyses are carried out for adult height in a Chinese sample composed of 385 nuclear families with a total of 1, 169 informative individuals. The results suggest a major recessive gene accounting for about 17. 2% of the total adult height variation in Chinese. Significant familial residual effects are found. The heritability (?SE) of height is estimated to be 0.647 (0.122). This study, for the first time, provides evidence for the high degree of genetic determination of adult height in Chinese population and furnishes a valuable reference for further mapping and identification of adult height genes in Chinese.